| |
News Archivies 2006
|
Confronto a Crema:
screening neonatali |
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|
Sabato 2 dicembre si è svolto
a Crema, presso la Sala Alessandrini, il convegno Screening
neonatali: quali e perché, organizzato dall'Unità
Operativa...... |
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| 27.12.2006 |
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_________________________________________________ |
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A Christmas to Cherish:
A Successful Liver Transplant for 10-Year-Old Luke
Brassard is ?Nothing Short of a Miracle' |
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|
On Christmas Day, Luke
Brassard might eat turkey. He might devour several helpings
of pumpkin pie and wash them down with hot chocolate. ...... |
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| 25.12.2006 |
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_________________________________________________ |
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Gene
chip discovery may lead to individualized treatment
for 5 hereditary liver diseases |
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|
Researchers at Cincinnati
Children's Hospital Medical Center have developed the first
gene chip to use in the early diagnosis of at least five
hereditary...... |
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| 21.12.2006 |
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_________________________________________________ |
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|
Newsletter |
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| 21.12.2006 |
|
_________________________________________________ |
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CLIMB NEWSLETTER
DECEMBER 2006 |
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|
Newsletter |
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|
| 20.12.2006 |
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_________________________________________________ |
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Newsletter NZORD - the New Zealand Organisation for
Rare Disorders Dec. 20, 2006 |
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|
Newsletter |
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|
| 20.12.2006 |
|
_________________________________________________ |
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BioMarin Announces
Positive Results From Phase 3 Extension Study of
Phenoptin for PKU |
|
|
BioMarin Pharmaceutical Inc. (Nasdaq
and SWX: BMRN) today announced positive results from the
pivotal Phase 3........ |
|
|
| 18.12.2006 |
|
_________________________________________________ |
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Scientific American.com
Profiles First Human Neural Stem Cell Transplant in
the Country |
|
|
Scientific American's science
news web site, sciam.com, today posted the findings of the
first ever human neural stem cell |
|
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| 18.12.2006 |
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_________________________________________________ |
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BURLO, LA MONTATURA E' FINITA |
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L’ospedale triestino ottiene
dalla Regione rassicurazioni sulle sue competenze in fatto
di malattie rare nei bambini e tutti sembrano contenti.
Peccato che ora........ |
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| 17.12.2006 |
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_________________________________________________ |
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Stem Cells Are Where
It's At |
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|
Seventeen years ago, Richard
Burt, an immunologist at Northwestern University, had a
crazy idea. What if ....... |
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| 17.12.2006 |
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_________________________________________________ |
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Plan to screen all
newborns for metabolic disease |
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|
The Health Ministry hopes to
screen all newborn babies for Inborn Errors of Metabolism (IEM)
or inherited metabolic diseases. ....... |
|
|
| 17.12.2006 |
|
_________________________________________________ |
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Amicus
Therapeutics Commences Phase 1 Clinical Trials for
AT2220 for Pompe Disease |
|
|
Amicus Therapeutics, a
biopharmaceutical company developing small molecule,
orally-administered pharmacological chaperones.... |
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| 14.12.2006 |
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_________________________________________________ |
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|
|
Anche il 13 dicembre è
destinato a diventare una data "storica" per le persone con
disabilità nel mondo: infatti, poco fa - esattamente alle
10.50, ora di New York -l'Assemblea
Generale delle... |
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|
| 13.12.2006 |
|
_________________________________________________ |
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Boy,
6, Survives Experimental Brain Surgery to Implant
Stem Cells |
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|
The first child to undergo
experimental brain surgery with a Silicon Valley company's
proposed stem-cell treatment has recovered enough from
the....... |
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| 12.12.2006 |
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_________________________________________________ |
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TIM All Star Game: gara delle schiacciate e
tiro da tre punti |
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Dopo il successo dello scorso
anno, con Pervis Pasco incredibile nell’andare a canestro
saltando su Drew Nicholas, anche l’edizione 2006 riproporrà
la spettacolare gara delle..... |
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| 12.12.2006 |
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_________________________________________________ |
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Terapia genica: una sequenza applicata al
gene-farmaco ne evita il rigetto |
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Grazie ad una scoperta
italiana condotta all’Istituto San Raffaele-Telethon balzo
in avanti nella terapia genica. Ora si studia l’applicazione
in....... |
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| 12.12.2006 |
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_________________________________________________ |
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Hope for O.C. boy rides
on stem cells |
|
|
Daniel Kerner's parents knew
the experimental brain surgery was risky, but without it the
6-year-old surely ...... |
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| 12.12.2006 |
|
_________________________________________________ |
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New Therapy for Kids
With Pompe Disease |
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|
Enzyme replacement therapy
created by U.S. researchers extends life in kids with
Pompe disease, a rare...... |
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| 07.12.2006 |
|
_________________________________________________ |
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Malattie rare:
dimenticate da chi? |
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|
Malattie rare: se ne parla
poco e si fa poco . Una recente indagine realizzata dal
Forum per la Ricerca Biomedica con il Censis, dal titolo “La
nuova domanda di comunicazione..... |
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| 06.12.2006 |
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_________________________________________________ |
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Investigator in Phase I Clinical Trial for Batten
Disease to Present at Lysosomal Disease Network
World Symposium |
|
|
Robert D. Steiner, M.D.,
F.A.A.P., F.A.C.M.G., will present at the
Third Annual Lysosomal Disease Network
World Symposium at ...... |
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|
| 06.12.2006 |
|
_________________________________________________ |
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College students flock
to screening for Jewish genetic diseases |
|
|
Every week, Jeanne Rogal
spends two hours treating herself for
Gaucher disease,
an inherited disorder that can cause harmful buildup of a
fatty substance in...... |
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| 06.12.2006 |
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_________________________________________________ |
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Toddler will help
study rare disorder |
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|
Gretchen and Mark Noah
have big plans for their son, Markie. In their hearts, they
know he will make a difference in the ...... |
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| 04.12.2006 |
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_________________________________________________ |
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New Drug Offers Hope
For Rare Hunter Syndrome |
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|
There is new hope for patients
who suffer from Hunter Syndrome, a rare metabolic disorder.
A Cambridge company has....... |
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| 04.12.2006 |
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_________________________________________________ |
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Father's love fuels desire to find cure for genetic
disease |
|
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John Crowley barely understood
some of the words a doctor used when he was told his
15-month-old daughter and 4-month-old son had a rare ..... |
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| 02.12.2006 |
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_________________________________________________ |
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Parents raise awareness of disease that took their
child |
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Rare, degenerative Tay-Sachs
disease stole Conner Hopf's ability to see and hear and,
eventually, to move before he died quietly at home Sunday,
two months...... |
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| 29.11.2006 |
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_________________________________________________ |
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MITOCHONDRIAL DISEASE: A NEW CLASS OF ILLNESSES |
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|
See the video
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| 23.11.2006 |
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_________________________________________________ |
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Maple Syrup Urine
Disease hits family |
|
|
Imagine you had a rare
disorder that wouldn't allow your body to process proteins
and you can eat only specially pre-packaged foods. Imagine
that ......... |
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|
| 23.11.2006 |
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_________________________________________________ |
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|
July 2006 Newsletter |
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| 23.11.2006 |
|
_________________________________________________ |
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Lew,
Family Fight Their Own War at Home |
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|
Five years ago, former
Waterloo East and University of Iowa star rusher Lew
Montgomery began his on-going battle. |
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| 23.11.2006 |
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_________________________________________________ |
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Board
Think Again on Hayleigh's Illness |
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|
A GLASGOW schoolgirl is the
only child in the UK to be refused NHS treatment for a rare
illness, it has been claimed. |
|
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| 22.11.2006 |
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_________________________________________________ |
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Gene
Therapy For Hereditary Lung Disease Advances |
|
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An experimental gene therapy
to combat alpha-1 antitrypsin deficiency, a common
hereditary disorder that causes lung and liver disease, has
caused no harmful effects |
|
|
| 22.11.2006 |
|
_________________________________________________ |
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|
Newsletter Summer 2006 |
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|
| 21.11.2006 |
|
_________________________________________________ |
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|
Newsletter
of Rare Diseases Task Force |
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|
| 20.11.2006 |
|
_________________________________________________ |
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NHS board reviews girl's therapy
|
|
|
Health board officials in
Glasgow are meeting to discuss whether to fund treatment for
an eight-year-old girl with a rare degenerative condition.
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|
|
| 21.11.2006 |
|
_________________________________________________ |
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NHGRI funds large-scale
sequencing centers |
|
|
The National Human Genome
Research Institute (NHGRI) today announced the results of
the recent competition for support of its three |
|
|
| 20.11.2006 |
|
_________________________________________________ |
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PerkinElmer
Selected for Expanded Neonatal Screening of Every
Newborn in the Netherlands |
|
|
PerkinElmer, Inc. a global
leader in Health Sciences and Photonics, today announced
that it has been selected to...... |
|
|
| 17.11.2006 |
|
_________________________________________________ |
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StemCells
Begins Study on Rare Disease |
|
|
Biopharmaceutical company
StemCells Inc. said Wednesday it transplanted a human neural
stem cell as part of an early stage clinical trial to combat
a rare...... |
|
|
| 15.11.2006 |
|
_________________________________________________ |
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|
|
Parents of Galactosemic
Children, Inc. |
|
|
| 14.11.2006 |
|
_________________________________________________ |
|
“BURLO,
BASTA PIAGNISTEI” |
|
|
Continuano le polemiche sul
coordinamento della ricerca per le malattie rare a Udine.
Qualcuno però, come il commissario del Burlo Emilio Terpin,
fa marcia indietro. . |
|
|
| 07.11.2006 |
|
_________________________________________________ |
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Handling
Genetic Disorders - A Mitochondrial Disease Family's
Story |
|
|
Dr. Gwenn, I am the mother of
a little girl diagnosed with Mitochondrial Disease Complex
I. I've recently become involved in the Mitochondrial
Disease Action Committee (MDAC), who...... |
|
|
| 06.11.2006 |
|
_________________________________________________ |
|
What
is Tay-Sachs disease? |
|
|
Tay-Sachs
is a fatal genetic disorder that causes progressive
destruction of the central nervous system. |
|
|
| 05.11.2006 |
|
_________________________________________________ |
|
Scientists
discover gene causing rare lysosomal storage disease |
|
|
Czech scientists have
discovered a gene that causes mucopolysaccharidoses, type
III, a rare metabolism disorder in which the body cannot |
|
|
| 26.10.2006 |
|
_________________________________________________ |
|
Porfirie:
San Gallicano è riferimento per la diagnosi |
|
1° incontro internazionale dei
malati di Porfirie al Centro Congressi "Bastianelli"
Il Centro per le Porfirie dell'Istituto Dermatologico San
Gallicano (ISG) si occupa da |
|
|
| 26.10.2006 |
|
_________________________________________________ |
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Cura
per la malattia di Pompe |
|
|
Sta per essere messo in
commercio in Italia il «Myozyme», la prima terapia specifica
oggi disponibile per i pazienti affetti dalla malattia di
Pompe o Glicogenesi di tipo II,.......... |
|
|
| 25.10.2006 |
|
_________________________________________________ |
|
Medicine
gives boy’s family reason to hope |
|
Sharon Cochenour didn’t expect
her oldest son to live this long, to almost 9.
And even though she organized fundraisers for research money
in earnest..... |
|
|
| 24.10.2006 |
|
_________________________________________________ |
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New
Technology Predicted To Revolutionize Genetic
Analysis Of Preimplantation Embryos |
|
|
The Center announced today it
has a patent pending, all rights reserved, for a new
screening technology to identify chromosome abnormalities,
single gene mutations,.... |
|
|
| 22.10.2006 |
|
_________________________________________________ |
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Metabolic
Disorder Underlies Huntington's Disease |
|
|
A metabolic disorder underlies
the brain effects found in those with Huntington's disease,
researchers report in an advance article publishing online
October 19, 2006. |
|
|
| 20.10.2006 |
|
_________________________________________________ |
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Replagal:
First Therapy To Provide New Hope For Children With
Fabry Disease |
|
|
The European Medicines Agency
(EMEA) has announced a licence variation for REPLAGAL (agalsidase
alfa) to include children with Fabry disease from seven
years of |
|
|
| 20.10.2006 |
|
_________________________________________________ |
|
ELAPRASE™
(idursulfase) receives positive opinion in Europe |
|
|
Shire plc today reported
that the Committee for Medicinal Products for Human Use (CHMP)
of the European Medicines Agency (EMEA) issued a positive
......... |
|
|
| 19.10.2006 |
|
_________________________________________________ |
|
Niemann-Pick
Disease Fundraiser At Senior Center Sunday |
|
|
Although Niemann-Pick Disease
is a rare childood disease, less than a 1,000 known cases
worldwide, the research that is being done for it may impact
other more well-known ....... |
|
|
| 18.10.2006 |
|
_________________________________________________ |
|
'Overwhelming'
response to fundraiser helps little girl with rare
disease |
|
|
Alexandria "Ally" Bexton
clapped with her grandfather in a pew at Faith Missionary
Church on Sunday, perhaps not fully realizing that all of
the singing,....... |
|
|
| 16.10.2006 |
|
_________________________________________________ |
|
Newborn
testing saving lives |
|
|
Leslie Preston and Laura
Warth-Leach already had plenty in common, even before they
had babies in their arms. The teens have known each other
since kinde....... |
|
|
| 13.10.2006 |
|
_________________________________________________ |
|
|
|
Newsletter n. 7 |
|
|
| 11.10.2006 |
|
_________________________________________________ |
|
Newest American Baby Faces Health Challenges |
|
|
America's population will
reach 300 million next week and if this newest American is a
newborn, that baby has 1-in-9 chance of being uninsured
sometime during childhood. |
|
|
| 11.10.2006 |
|
_________________________________________________ |
|
Da domani il Centro
dell’hotel Flaminio ospita tre congressi scientifici
di straordinaria importanza |
|
|
Da domani al 13 ottobre, nel
Centro Congressi dell’Hotel Flaminio, si svolgerà un
Congresso Nazionale congiunto di tre Società
Scientifiche:......... |
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|
| 10.10.2006 |
|
_________________________________________________ |
|
|
|
Newsletter
of Rare Diseases Task Force |
|
|
| 10.10.2006 |
|
_________________________________________________ |
|
Nutra Pharma
Announces Final Approval to Begin Phase IIb Human
Clinical Trial for the Treatment of
Adrenomyeloneuropathy |
|
|
Nutra Pharma Corp. (OTCBB:NPHC),
a biotechnology company that is developing drugs for HIV and
Multiple Sclerosis, has announced that ReceptoPharm, has
received Ethics Committee ...... |
|
|
| 05.10.2006 |
|
_________________________________________________ |
|
Tests
have identified 40 cases of disease |
|
|
In December, Kentucky began
testing all newborns for an expanded list of
life-threatening metabolic problems and diseases, 29 in all.
Previously, the state...... |
|
|
| 03.10.2006 |
|
_________________________________________________ |
|
Testing helps save newborns |
|
|
Leslie Preston and Laura
Warth-Leach already had plenty in common, even before they
had babies in their arms......... |
|
|
| 03.10.2006 |
|
_________________________________________________ |
|
One
Donor Organ Saves Two Lives In Rare Transplant |
|
|
Surgeons at Children's
Hospital of Pittsburgh and UPMC saved two patients using a
technique known as a domino transplant. |
|
|
| 28.09.2006 |
|
_________________________________________________ |
|
Newborn Screening
Method Discovered for Pediatric Disease Made Famous
in 1992 Motion Picture, Lorenzo's Oil |
|
|
The current lack of a newborn
screening method for X-linked Adrenoleukodystrophy (X-ALD)
means that many boys born with the often deadly genetic
disorder are not |
|
|
| 27.09.2006 |
|
_________________________________________________ |
|
Stem Cell Clinical
Trial to Treat Children |
|
|
The first clinical trial to
transplant stem cells to treat a brain disease is set to get
under way this year. ...... |
|
|
| 23.09.2006 |
|
_________________________________________________ |
|
Nasce il nuovo 'Patto per la Salute' che avrà una
durata triennale |
|
|
Dopo un lungo incontro
iniziato questa mattina alle 9.30 al Ministero dell'Economia
e delle Finanze è stato raggiunto l'accordo tra regioni |
|
|
| 22.09.2006 |
|
_________________________________________________ |
|
Studies Published
In PNAS On The Mechanism Of Amicus' Experimental
Treatment For Gaucher Disease |
|
|
Amicus
Therapeutics, a biopharmaceutical company developing small
molecule, orally- administered pharmacological chaperones
for the treatment of a range of human |
|
|
| 21.09.2006 |
|
_________________________________________________ |
|
Settimana Internazionale delle Malattie Rare |
|
|
5 anni di false promesse e di
lunghi silenzi della Politica per le Malattie rare:
finalmente oggi Scienza, Politica e Società civile insieme
per parlare concretamente di Malattie.......... |
|
|
| 18.09.2006 |
|
_________________________________________________ |
|
National Institutes of Health launches user-friendly
Web site |
|
|
Need information on reading
disability? Want to know how much calcium is in a serving of
broccoli? Trying to find out how to apply for a research
grant to study spinal cord |
|
|
| 17.09.2006 |
|
_________________________________________________ |
|
Teen
with rare disease looks to his future |
|
That was the fate of a family
in The Woodlands, until this summer.
At the ripe old age of 14, Nick Melynk has already beaten
the odds. |
|
|
| 13.09.2006 |
|
_________________________________________________ |
|
September is National Newborn Screening Awareness
Month |
|
|
September is National Newborn
Screening Awareness Month, and according to the American
College of Medical Genetics (ACMG),......... |
|
|
| 12.09.2006 |
|
_________________________________________________ |
|
BioMarin and Serono
Announce Data on Phenoptin in PKU to be Presented at
the 56th Annual Meeting of the American Society of
Human Genetics |
|
|
BioMarin Pharmaceutical Inc.
and Serono today announced data from clinical studies
of Phenoptin(TM) (sapropterin dihydrochloride), an
investigational oral small-molecule therapeutic.... |
|
|
| 12.09.2006 |
|
_________________________________________________ |
|
National
Gaucher Foundation Hosts 'September Summit' of
Jewish Community and Healthcare Leaders to Fight
Jewish Genetic Disease |
|
|
In response to alarming new
data that only six percent of the American Jewish population
is aware of Gaucher (Pronounced....... |
|
|
| 12.09.2006 |
|
_________________________________________________ |
|
BioMarin Provides Update on Phenylase Product
Development |
|
|
BioMarin Pharmaceutical Inc.
announced today that investigators presented data from
preclinical studies of Phenylase(TM) (phenylalalanine
ammonia lyase)....... |
|
|
| 11.09.2006 |
|
_________________________________________________ |
|
Transplant gives parents, child hope |
|
When I met Elizabeth "Elly"
Hulett, she was a handful - more than I expected.
She jumped around the living room with her grandmother
Sandra Hulett and dance....... |
|
|
| 10.09.2006 |
|
_________________________________________________ |
|
|
|
Newsletter
of Rare Diseases Task Force |
|
|
| 08.09.2006 |
|
_________________________________________________ |
|
L'eurovigile dei
farmaci parte da Reggio Emilia |
|
|
Parte da Reggio l’eurovigile
dei farmaci e opererà su tutto il territorio europeo.
Domani, in città, si riuniscono tutti i partner del progetto
sulla farmacovigilanza denominato.... |
|
|
| 08.09.2006 |
|
_________________________________________________ |
|
OVATION and Cardinal Health Announce FDA Approval
Letter for Manufacturing of Biologic Therapy To
Treat Rare Genetic Disorder |
|
|
OVATION Pharmaceuticals, Inc.
and Cardinal Health, Inc., announced today that the U.S.
Food and Drug Administration (FDA) issued |
|
|
| 06.09.2006 |
|
_________________________________________________ |
|
Genzyme Commends New Book for Portraying Challenges
Faced by Patients with Pompe Disease and Their
Families |
|
|
Genzyme Corporation today
welcomed publication of "The Cure," a new book by Geeta
Anand that reveals for the general public the enormous
challenges faced |
|
|
| 31.08.2006 |
|
_________________________________________________ |
|
Previously approved drugs may be helpful in fatal
pediatric disorder |
|
|
A progressive
neurodegenerative disorder that is often fatal within the
first two decades of life may be treatable via a molecule
already targeted by approved drugs, scientists ..... |
|
|
| 28.08.2006 |
|
_________________________________________________ |
|
|
|
Newsletter n. 6 |
|
|
| 25.08.2006 |
|
_________________________________________________ |
|
Young
Girl Ill With Rare Disease: Fundraiser is Planned
for Her at ACD Festival |
|
|
In a special unit at Riley
Hospital for Children in Indianapolis, 16-month-old Cadence
Elizabeth Rigden of Fort Wayne is spending this week
fighting off an infection.... |
|
|
| 24.08.2006 |
|
_________________________________________________ |
|
Inherited Metabolic Disorder More Common Than
Thought |
|
|
An inherited metabolic
disorder called SCADD, which can cause developmental delay
and other problems, is more common than |
|
|
| 22.08.2006 |
|
_________________________________________________ |
|
Family
Works To Raise Awareness Of Tay Sachs Disease |
|
|
We first introduced you to her
three months ago, Molly Grace Jordan. She is a toddler from
Whitley County who is dying of a deadly genetic disorder
called........ |
|
|
| 21.08.2006 |
|
_________________________________________________ |
|
Idursulfase is effective treatment for Hunter
syndrome, clinical trial concludes |
|
Pivotal UNC-led clinical trial
helps gain FDA approval for enzyme replacement drug
Chapel Hill -- An article reporting results from a pivotal
clinical trial that helped gain...... |
|
|
| 16.08.2006 |
|
_________________________________________________ |
|
Health
Alert: Lorenzo's Oil |
|
|
Remember the 1992 movie "Lorenzo's
Oil"? It's based on the real-life story of a little boy with
that rare neurological disease. His parents, desperate to
find a cure......... |
|
|
| 15.08.2006 |
|
_________________________________________________ |
|
Chemists'
Study Of Protein May Provide Insights Into Heart
Disease And Cancer |
|
|
Carla Koehler, a UCLA
associate professor of chemistry and biochemistry, and
Steven Claypool, a UCLA postdoctoral scholar in chemistry
and biochemistry, report in the current issue of the Journal
of Cell Biology about the "tafazzin" protein, which plays a
key role in
Barth syndrome. |
|
|
| 11.08.2006 |
|
_________________________________________________ |
|
New
Light Microscope Can View Protein Arrangement in
Cell Structures |
|
|
Researchers at Howard Hughes
Medical Institute’s Janelia Farm Research Campus, the
National Institutes of Health, and Florida State University
have developed......... |
|
|
| 10.08.2006 |
|
_________________________________________________ |
|
Assegnazione di finanziamento per la ricerca
indipendente sui farmaci, ai sensi dell'articolo 48,
commi 5, lettera g), e 19, del decreto-legge 30
settembre 2003, n. 269, convertito dalla legge 24
novembre 2003, n. 326. |
|
|
Nell'ambito della promozione
della ricerca indipendente sui farmaci, finanziata ai sensi
del comma 19 della legge n. 326/2003, l'Agenzia italiana del
farmaco, |
|
|
| 08.08.2006 |
|
_________________________________________________ |
|
Our Neighbors: Family's faith unshaken by disease |
|
here are two dates that stick
out in Neva Craft's mind — March 8 and July 18.
They are the only two days this year that her 1-year-old
granddaughter,......... |
|
|
| 08.08.2006 |
|
_________________________________________________ |
|
Atp7a
determines a hierarchy of copper metabolism
essential for notochord development |
|
|
A new study reveals the timing
of developmental events that critically depend on copper.
While copper deficiency is rare in humans, the findings
suggest that......... |
|
|
| 08.08.2006 |
|
_________________________________________________ |
|
Neonata salavata al
Policlinico di Modena da profilassi all'avanguardia |
|
|
Grazie a una diagnosi
tempestiva e a una profilassi all’avanguardia, i sanitari
del Centro malattie eredometaboliche del Fegato (CEMEF) del
Policlinico hanno salvato |
|
|
| 06.08.2006 |
|
_________________________________________________ |
|
Inborn
Errors of Metabolism in Infancy and Early Childhood:
An Update |
|
|
Recent innovations in medical
technology have changed newborn screening programs in the
United States. The widespread use of tandem mass
spectrometry is ....... |
|
|
| 06.08.2006 |
|
_________________________________________________ |
|
|
|
Newsletter n. 5 |
|
|
| 27.07.2006 |
|
_________________________________________________ |
|
Genzyme starts Phase 2 trial for Gaucher disease |
|
|
Genzyme Corp. has begun to
treat patients in a Phase 2 clinical trial of Genz-112638,
an oral therapy being developed for the treatment ....... |
|
|
| 26.07.2006 |
|
_________________________________________________ |
|
Cell energy and genome health link found |
|
|
U.S. scientists have found
eliminating two catalysts vital to managing a yeast cell's
energy results in turning off ...... |
|
|
| 26.07.2006 |
|
_________________________________________________ |
|
Fundraiser to Help Algonquin Infant and His Family |
|
Looking for a worthy cause to
help out with? I've got the perfect one.
Algonquin 11-month-old Madison Noel Gerber has....... |
|
|
| 26.07.2006 |
|
_________________________________________________ |
|
|
|
All’ospedale di Terni è stata
inaugurata la prima "Banca delle cellule staminali
cerebrali" al mondo. È diretta dal professor Angelo Vescovi,
biologo, ed è stata costituita con ...... |
|
|
| 25.07.2006 |
|
_________________________________________________ |
|
Shire Drug Gets FDA Approval |
|
|
FDA approves Hunter syndrome treatment
likely to cost $300,000 per patient per year |
|
|
| 25.07.2006 |
|
_________________________________________________ |
|
Shire’s ELAPRASE™ (idursulfase) Approved by the
Food and Drug Administration (FDA) for Hunter
Syndrome |
|
|
Shire plc today announced that the FDA
has granted marketing approval for ELAPRASE, a human enzyme
replacement therapy for ...... |
|
|
| 24.07.2006 |
|
_________________________________________________ |
|
Concert to benefit baby with fatal disease |
|
|
A concert to benefit Jayden
Terell, an 11-month-old who is suspected to have
Kearns-Sayre Syndrome, will be from 7:30 to 9 p.m. Monday at
the First United Methodist........ |
|
|
| 22.07.2006 |
|
_________________________________________________ |
|
Genetic Clues Found in Certain Dementias |
|
|
U.S. scientists say genetic
alterations originally identified in people suffering from a
rare disease may also be a part of age-related dementia.
|
|
|
| 17.07.2006 |
|
_________________________________________________ |
|
Genetica parte la sfida
campana |
|
|
Ricerca di qualità nel campo
della genetica, alta formazione e attività di servizio per
le imprese ...... |
|
|
| 16.07.2006 |
|
_________________________________________________ |
|
Ark. babies screened for only 6 health disorders |
|
|
Arkansas health officials are
looking into the possibility of expanding the screening
program for newborns. Only six disorders are currently
included in....... |
|
|
| 15.07.2006 |
|
_________________________________________________ |
|
Montalcini inaugura l’istituto di genetica |
|
|
Sarà il premio Nobel per la
medicina, Rita Levi Montalcini, ad inaugurare domani, ad
Ariano Irpino, il nuovo Istituto di ricerche genetiche...... |
|
|
| 13.07.2006 |
|
_________________________________________________ |
|
Agreement Signed to Improve Neonatal Disease
Screening |
|
|
The Ministry of Health has
recently inked a co-operation agreement with Finnish
PerkinElmer Wallac Inc to initiate a five- year neonatal
disease screening programme in China. |
|
|
| 12.07.2006 |
|
_________________________________________________ |
|
|
|
Newsletter
of Rare Diseases Task Force |
|
|
| 12.07.2006 |
|
_________________________________________________ |
|
States
Doubled Number of Newborns Tested for Genetic
Diseases |
|
|
States have nearly doubled the
number of newborns being tested for a host of rare but
devastating genetic diseases -- yet where you live still
determines just how....... |
|
|
| 11.07.2006 |
|
_________________________________________________ |
|
More
States Test Newborns for Disorders |
|
|
WASHINGTON - States have
nearly doubled the number of newborns being tested for a
host of rare but devastating genetic diseases - yet where
you live still determines...... |
|
|
| 11.07.2006 |
|
_________________________________________________ |
|
Newsletter
The
National
Information Centre for
Metabolic
Diseases |
|
|
Climb |
|
|
| 10.07.2006 |
|
_________________________________________________ |
|
Congenital Diseases:
Genetics Behind Developmental Brain Disorders May
Play A Wider Role |
|
|
Findings of a recent genetic
study on developmental brain disorders may be the "tip of an
iceberg" revealing factors involved with a number of
congenital diseases, according to........ |
|
|
| 08.07.2006 |
|
_________________________________________________ |
|
|
|
Newsletter n. 4 |
|
|
| 07.07.2006 |
|
_________________________________________________ |
|
UCLA Study Finds Same Genes Act Differently In Males
And Females |
|
Scientists may have revealed
the origin of the battle of the sexes—in our genes.
UCLA researchers report in a new study that thousands of
genes behave differently..... |
|
|
| 07.07.2006 |
|
_________________________________________________ |
|
Dalla
9° edizione del Simposio internazionale sulle
Mucopolisaccaridosi |
|
|
La recentissima scoperta
dell'identificazione del gene responsabile della MPS IIIC
(Sindrome di Sanfilippo), l'ultimo ancora non individuato
fra i geni responsabili di MPS, |
|
|
| 05.07.2006 |
|
_________________________________________________ |
|
Scientists Develop A New Diagnostic Approach For
Carriers Of Recessive Genetic Disorders |
|
|
Scientists Vivian Cheung and Warren Ewens from the
University of Pennsylvania have developed a new approach
for the diagnosis of medical disorders that are
inherited in |
|
|
| 05.07.2006 |
|
_________________________________________________ |
|
Marrow May Be the Only Hope |
|
|
Bone marrow's the factory that
makes blood. It's also where all kinds of mistakes can be
fixed. It may even cure some people who have cancer,
aplastic anemia or other...... |
|
|
| 02.07.2006 |
|
_________________________________________________ |
|
MALATTIE RARE: SCIENZIATA USA VINCE PREMIO A RICERCA
CONTRO MUCOPOLISACCARIDOSI |
|
|
E' la ricercatrice americana
Elizabeth F. Neufeld la vincitrice del premio 'A life for
Mps', assegnato per la prima volta da un Comitato..... |
|
|
| 01.07.2006 |
|
_________________________________________________ |
|
Wyoming Health Department increases newborn
screenings |
|
|
CHEYENNE -- Babies born in
Wyoming after July 1 will undergo screening for more medical
conditions under a program administered by the Wyoming
Department of |
|
|
| 30.6.2006 |
|
_________________________________________________ |
|
Orphan Medicines Regulation For Rare Diseases On The
Road To Success |
|
|
The European Commission has
published its final evaluation (1) - following comments
received from stakeholders (2) - on five years of the EU's
Orphan Medicines |
|
|
| 30.6.2006 |
|
_________________________________________________ |
|
Inizia domani a Venezia il 9° Simposio
Internazionale sulle Mucopolisaccaridosi |
|
|
“insieme per una vita
migliore": è questo il titolo del 9° Simposio internazionale
sulle Mucopolisaccaridosi e malattie affini che vedrà la
partecipazione di 26 Paesi e che si |
|
|
| 28.6.2006 |
|
_________________________________________________ |
|
RSRF-funded Research Links Rett Syndrome To
Mitochondrial Gene |
|
|
New research from the lab of
Adrian Bird, a molecular geneticist at the University of
Edinburgh, Scotland, reveals that abnormally high levels of
a protein called Uqcrc1 in... |
|
|
| 28.6.2006 |
|
_________________________________________________ |
|
Newborn Screenings Expand To Detect More Diseases |
|
|
Estimates are that Colorado will welcome more than
70,000 newborns this year, and on July 1 they will undergo a
screening that will be able to detect a rare metabolic
disease. |
|
|
| 28.6.2006 |
|
_________________________________________________ |
|
USA,
fondi per una rete di ricerche sulle malattie rare |
|
|
Il National Institute of
Health statunitense ha appena stanziato 71 milioni di
dollari per lanciare il Rare Diseases Clinical Research
Network. Questa... |
|
|
| 28.6.2006 |
|
_________________________________________________ |
|
Salute. Malattie congenite: oggi giornata europea
della Pku |
|
|
Si celebra oggi, 28 giugno, in
tutta Europa, la Giornata europea della Pku, ovvero
della iperfenilalaninemia o fenilchetonuria,
malattia metabolica congenita; la..... |
|
|
| 28.6.2006 |
|
_________________________________________________ |
|
Attitudes of New Mothers Towards Genetics and
Newborn Screening |
|
|
Objective. To evaluate new
mothers' opinions of genetics and newborn screening. |
|
|
| 22.6.2006 |
|
_________________________________________________ |
|
Young girl suffers from rare cell disease |
|
|
Her parents are relieved to
know the name of their daughter's affliction, but worry
about her pain and their insurance money. |
|
|
| 22.6.2006 |
|
_________________________________________________ |
|
Should We Be Worried By the Latest Step Towards
Designer Babies? ; The Big Question |
|
|
British scientists yesterday
announced a breakthrough in genetic testing which will allow
embryos to be screened for almost any inherited disorder
passed on from their |
|
|
| 20.6.2006 |
|
_________________________________________________ |
|
Correcting genetic defect in Gaucher disease |
|
|
In 2002, researchers
discovered that certain chemical compounds, called "chemical
chaperones," can partially correct the genetic defect
responsible for most cases of |
|
|
| 20.6.2006 |
|
_________________________________________________ |
|
New
technique will screen embryos for almost 6,000
inherited diseases |
|
|
A powerful new method of
testing embryos for inherited diseases, has been developed
by fertility specialists in Britain. |
|
|
| 19.6.2006 |
|
_________________________________________________ |
|
Embryo screening set to take giant step in battling
hereditary disease |
|
|
PROSPECTIVE parents at risk of
passing inherited diseases to their children will be able to
have embryos screened for almost any defective gene using a
|
|
|
| 19.6.2006 |
|
_________________________________________________ |
|
New
screening cuts risk of genetic disease |
|
|
Thousands of couples affected
by serious genetic diseases will be able to have children
without the risk of passing on their condition, as a result
of a new screening...... |
|
|
| 19.6.2006 |
|
_________________________________________________ |
|
'Miracle
Baby' Survives 'Spiral of Death' |
|
|
With a special heart bypass
machine and the results of a newborn screening test, UW
Children's Hospital doctors saved the life of a Baraboo
infant suffering from a rare genetic...... |
|
|
| 16.6.2006 |
|
_________________________________________________ |
|
Adrenomyeloneuropathy in Patients With 'Addison's
Disease': Genetic Case Analysis |
|
|
Objective To review the
clinical presentations and diagnostic issues in
adrenomyeloneuropathy and adrenoleukodystrophy, which are
different presentations of the same single gene disorder.
|
|
|
| 16.6.2006 |
|
_________________________________________________ |
|
A Tale of Two Sisters: Treatment for Rare Genetic
Disease Offers New Hope |
|
|
Sisters Megan and Kelsey
Assink were born with a rare genetic disease that kills most
children during infancy. |
|
|
| 14.6.2006 |
|
_________________________________________________ |
|
Federal Government to Participate in Study of Fabry
Disease |
|
|
OTTAWA
- Health Minister Tony Clement announced today that the
federal government will participate with provincial and
territorial governments and two drug |
|
|
| 14.6.2006 |
|
_________________________________________________ |
|
Federal government
announces study of expensive Fabry disease drugs
|
|
|
TORONTO (CP) - The federal,
provincial and territorial governments and two
pharmaceutical companies will embark on a three-year study
to investigate the |
|
|
| 14.6.2006 |
|
_________________________________________________ |
|
Incrementato il fondo per le cure
fuori regione. La soddisfazione dell’assessore Lo
Moro |
|
|
CATANZARO. È stato incrementato il fondo
destinato al finanziamento della legge, in favore di
soggetti affetti da particolari patologie, che..... |
|
|
| 12.6.2006 |
|
_________________________________________________ |
|
Grants Spur Work on 'Orphan' Drugs |
|
|
Until 1982, when Congress
passed the Orphan Drug Act, few treatments for rare diseases
made it to market. |
|
|
| 11.6.2006 |
|
_________________________________________________ |
|
«Geni corretti, bimbi sani» Il padre di Dolly al
lavoro contro le malattie ereditarie |
|
|
Londra.
Clonare embrioni e alterare geni per far nascere bambini che
non ereditino le malattie dei genitori dovrebbe essere
consentito. È quanto afferma Ian Wilmut, lo scienziato a
capo.... |
|
|
| 06.6.2006 |
|
_________________________________________________ |
|
Newletter of rare Diseases Task Force |
|
|
| Orpha-News Europe |
|
|
| 05.06.2006 |
|
_________________________________________________ |
|
|
|
Newsletter n. 3 |
|
|
| 05.6.2006 |
|
_________________________________________________ |
|
Newborn Screening Can Cause Unnecessary Parental
Stress - Worries Linger Even After False-positive
Diagnoses Are Ruled Out |
|
|
Virtually all babies in the U.S. have their heels pricked
soon after birth to get a blood sample for genetic testing.
These "heel stick" tests identify rare metabolic disorders....... |
|
|
| 05.6.2006 |
|
_________________________________________________ |
|
|
|
Recent innovations in medical
technology have changed newborn screening programs in the
United States. The widespread use of tandem mass
spectrometry is helping to identify ..... |
|
|
| 01.6.2006 |
|
_________________________________________________ |
|
Rare Diseases Clinical
Research Network studies begin |
|
|
In November 2003 the U.S.
National Institutes of Health (NIH) established the Rare
Diseases Clinical Research Network (RDCRN) in order to
increase collaboration and |
|
|
| 01.6.2006 |
|
_________________________________________________ |
|
PRIME
PRogetto Integrato Malattie Ereditarie |
|
|
Esistono oltre 7000 tipi
diversi di malattie ereditarie monogeniche, molte delle
quali gravemente debilitanti. Il ...... |
|
|
| 28.5.2006 |
|
_________________________________________________ |
|
Pompe disease treatment comes too late for couple
Parents lose infant to enzyme deficiency |
|
|
Approval of a therapy for a rare condition is
bittersweet for a Concord couple whose son fell victim to
the disease. |
|
|
| 28.5.2006 |
|
_________________________________________________ |
|
Stem cell hope for three brothers with deadly brain
disease |
|
|
Doctors treating three young brothers who
have all been diagnosed with the same rare and terminal
brain disorder believe that bone marrow transplants and.... |
|
|
| 24.5.2006 |
|
_________________________________________________ |
|
Enzyme defect leads to hyperinsulinism |
|
| A recent study in the
Journal of Biological Chemistry confirms that mutations in
an enzyme called glutamate dehydrogenase can cause
congenital..... |
|
|
| 24.5.2006 |
|
_________________________________________________ |
|
Toward a less expensive, more convenient treatment
of Gaucher's disease |
|
| Prospects for eventual
development of a less costly and more convenient treatment
for Gaucher's disease have brightened with new research
findings reported in the.... |
|
|
| 24.5.2006 |
|
_________________________________________________ |
|
|
| Newsletter n. 2 |
|
|
| 18.5.2006 |
|
_________________________________________________ |
|
Victim of Canavan's disease making progress on
experimental therapy |
|
|
In 2003, Lana Swancey became the youngest
person ever to have experimental gene surgery for Canavan's
disease. |
|
|
| 15.5.2006 |
|
_________________________________________________ |
|
Ottawa, provinces to fund Fabry disease drugs if
patients enrol in research |
|
| Sufferers of Fabry disease
- a rare condition that affects fewer than 300 Canadians -
will now have two costly drugs paid for if they enrol in
clinical trials. |
|
|
| 13.5.2006 |
|
_________________________________________________ |
|
Malattie rare: un convegno sulla Glicogenosi di tipo
II |
|
|
Si è tenuto a Milano il 6 maggio. Alcuni
esperti hanno presentato i risultati di una promettente
sperimentazione |
|
|
| 10.5.2006 |
|
_________________________________________________ |
|
Newsletter
The
National
Information Centre for
Metabolic
Diseases |
|
| Climb |
|
|
| 04.05.2006 |
|
_________________________________________________ |
|
Newletter of rare Diseases Task Force |
|
|
| Orpha-News Europe |
|
|
| 05.05.2006 |
|
_________________________________________________ |
|
|
| Newsletter n. 1 |
|
|
| 04.5.2006 |
|
_________________________________________________ |
|
RICERCATORI TELETHON IDENTIFICANO UN NUOVO
GENE-MALATTIA |
|
|
La notizia è pubblicata su una delle più
importanti riviste scientifiche del mondo, Nature
Genetics*: è stato identificato un nuovo gene che, se
alterato, causa una |
|
|
| 02.5.2006 |
|
_________________________________________________ |
|
Study
reports newborn screening tests can save both lives
and money |
|
| In a new study, conducted
for the federal government and published in a supplement to
the May issue of the journal Pediatrics, Stephen M. Downs,
M.D. and Aaron E. Carroll, M.D., of the Indiana |
|
|
| 01.05.2006 |
|
_________________________________________________ |
|
Zymenex
to focus on the Lysosomal Storage Disease,
Metachromatic Leukodystrophy (MLD) |
|
| Lead project, Metazym, to
enter Phase I/II trials H2 2006. Development program in
Porphyria discontinued. |
|
|
| 30.04.2006 |
|
_________________________________________________ |
|
Pompe
Disease Drug Myozyme Gets FDA approval |
|
|
A biologics licence
application has been approved by the FDA for Myozyme (alglucosidase
alfa, rhGAA), this is the first treatment for Pompe disease,
a rare, but....... |
|
|
| 29.04.2006 |
|
_________________________________________________ |
|
Association of Public
Health Laboratories Applauds Introduction of the
Newborn Screening Saves Lives Act |
|
| The Association of Public
Health Laboratories (APHL) commends Senators Chris Dodd (D-Conn.)
and Mike DeWine (R-Ohio) for their introduction of..... |
|
|
| 28.04.2006 |
|
_________________________________________________ |
|
AMICUS
THERAPEUTICS FILES INVESTIGATIONAL NEW DRUG
APPLICATION FOR AT2101 FOR GAUCHER DISEASE |
|
| Amicus Therapeutics, a
biopharmaceutical company developing small molecule,
orally-administered pharmacological chaperones for the
treatment of human genetic diseases..... |
|
|
| 27.04.2006 |
|
_________________________________________________ |
|
RICERCA SAN RAFFAELE-TELETHON TERAPIA GENICA, BALZO
IN AVANTI GRAZIE A
SCOPERTA ITALIANA: UN “CODICE A BARRE” APPLICATO AL
GENE-FARMACO |
|
| Uno studio condotto
all’Istituto San Raffaele Telethon per la Terapia Genica (Hsr-tiget)
di Milano e diretto dal Prof. Luigi Naldini apre nuovi..... |
|
|
| 27.04.2006 |
|
_________________________________________________ |
|
EUROPEAN
REGULATORY COMMITTEE RECOMMENDS ORPHAN MEDICINAL
PRODUCT DESIGNATION FOR AMICUS THERAPEUTICS’ AMIGAL™
FOR FABRY DISEASE |
|
| Amicus Therapeutics, a
biopharmaceutical company developing small molecule,
orally-administered pharmacological chaperones for the
treatment of human genetic diseases, |
|
|
| 11.04.2006 |
|
_________________________________________________ |
|
Newletter of rare Diseases Task Force |
|
| Orpha-News Europe |
|
|
| 09.04.2006 |
|
_________________________________________________ |
|
NORD National
Organization for Rare Disorders |
|
| Newsletter |
|
|
| 06.04.2006 |
|
_________________________________________________ |
|
Edison Pharmaceuticals Announces FDA Grants
EPI-A0001 Orphan Drug Designation for Inherited
Mitochondrial Respiratory Chain Diseases |
|
| Edison Pharmaceuticals,
Inc. announced today that the U.S. Food and Drug
Administration (FDA) has granted orphan drugs......... |
|
|
| 04.04.2006 |
|
_________________________________________________ |
|
Journal of Inherited
Metabolic Disease |
|
| April 2006 |
|
|
| 01.04.2006 |
|
_________________________________________________ |
|
MALATI CRONICI SPENDONO 500 EURO AL MESE PER FARMACI |
|
| Lentezze burocratiche,
lunghi tempi di attesa per le visite specialistiche,
differenze territoriali notevoli, mancato accesso ai farmaci
sono i principali |
|
|
| 01.04.2006 |
|
_________________________________________________ |
|
Il calvario quotidiano dei malati cronici in un
Rapporto |
|
|
Lentezze burocratiche, lunghi tempi di attesa
per le visite specialistiche, differenze territoriali
notevoli, mancato accesso ai farmaci sono i principali
problemi segnalati dai..... |
|
|
| 31.03.2006 |
|
_________________________________________________ |
|
LIGURIA/SANITA': TICKET RIDOTTO PER PATOLOGIE RARE E
VACCINAZIONI |
|
| (ASCA)
- Genova, 24 mar - Due milioni di euro stanziati dalla
Giunta per ridurre la compartecipazione alla spesa sanitaria
oggi a carico dei cittadini per patologie |
|
|
| 26.03.2006 |
|
_________________________________________________ |
|
Moda e spettacolo a
braccetto per aiutare la ricerca |
|
|
Moda e spettacolo a braccetto per
solidarietà. Questa sera, alle 19, nell'hotel Palace, si
svolgerà la manifestazione organizzata per raccogliere fondi
in favore..... |
|
|
| 26.03.2006 |
|
_________________________________________________ |
|
NORD National
Organization for Rare Disorders |
|
| Newsletter |
|
|
| 21.03.2006 |
|
_________________________________________________ |
|
Edison Pharma, University of Bologna and Columbia
University Medical Center Establish Mitochondrial
Disease Partnership |
|
| SAN JOSE, California, USA,
BOLOGNA, Italy, and NEW YORK, New York, USA – Edison
Pharmaceuticals, the University of Bologna and Columbia |
|
|
| 16.03.2006 |
|
_________________________________________________ |
|
Newletter of rare Diseases Task Force - March, 2006 |
|
| Orpha-News Europe |
|
|
| 16.03.2006 |
|
_________________________________________________ |
|
BioMarin and Serono Announce
Positive Results From Phase 3 Clinical Study of
Phenoptin for PKU |
|
|
BioMarin Pharmaceutical Inc. and Serono announced
today positive results of a Phase 3,.... |
|
|
| 15.03.2006 |
|
_________________________________________________ |
|
Farmaci orfani, troppo pochi quelli approvati in
Europa |
|
| Sebbene vi siano 5000
malattie rare in attesa di cure, solo il 7 per cento dei
“farmaci orfani” di cui è stata richiesta l’approvazione
all’EMEA (Agenzia Europea di Controllo..... |
|
|
| 14.03.2006 |
|
_________________________________________________ |
|
Orphan
status for Gaucher disease drug; Fabry disease
clinical trials |
|
|
In February 2006 the U.S. Food and Drug
Administration (FDA) approved orphan drug status for
AT2101..... |
|
|
| 10.03.2006 |
|
_________________________________________________ |
|
5,000 Rare Diseases Need Drugs, But Europe Only
Approves A Handful Each Year |
|
|
Only seven per cent of drug applications for
treating people with rare diseases were approved in Europe
between 2000 and 2004, despite the fact that there are
currently.... |
|
|
| 09.03.2006 |
|
_________________________________________________ |
|
StemCells, Inc. Receives IRB Approval
From Oregon Health & Science University To Begin
Phase I Clinical Trial In Batten Disease |
|
|
StemCells, Inc. today announced that it
has received approval from the Institutional Review Board (IRB)
of the Oregon Health & Science University (OHSU) to initiate
a ... |
|
|
| 09.03.2006 |
|
_________________________________________________ |
|
Approvazione inadeguata
di farmaci per le malattie rare |
|
| Per
anni gruppi di pazienti hanno criticato le ditte
farmaceutiche per non aver investito nello sviluppo di
farmaci destinati alle malattie rare. Apparentemente però... |
|
|
| 07.03.2006 |
|
_________________________________________________ |
|
FARMACI: GARATTINI, SOLO 7% PRODOTTI 'ORFANI' ARRIVA
SUL MERCATO UE |
|
| Rimangono 'orfani' di cure
gli europei che soffrono di malattie rare. Dall'agosto 2000
(quando in Ue e' entrata in vigore la legislazione..... |
|
|
| 07.03.2006 |
|
_________________________________________________ |
|
Teen gets a handle on rare condition |
|
|
Briana Angela Bliss and her family are
packing their bags and preparing for an unforgettable trip
that will take them to Walt Disney World in Orlando, Fla.,
and..... |
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|
| 06.03.2006 |
|
_________________________________________________ |
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Boy With Canavan Disease Defies Odds |
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|
Jacob Sontag is 10 years old -- and he's
already lived longer than doctors predicted. |
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| 03.03.2006 |
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_________________________________________________ |
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A healthy baby is able to develop vision, movement, hearing,
and other vital functions, in part, because enzymes clear
out fatty protein and other unwanted..... |
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|
| 28.02.2006 |
|
_________________________________________________ |
|
Eurordis Newsletter March, 2006 |
|
| Eurordis |
|
|
| 28.02.2006 |
|
_________________________________________________ |
|
Rare
disease causes copper to accumulate in brain, liver
|
|
|
My friend has suffered from
Wilson's disease for many years. We would appreciate hearing
if there has been any advancement in the treatment of..... |
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|
| 24.02.2006 |
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_________________________________________________ |
|
New machine gets thumbs up |
|
| It's a
major advance in genetic screening that will save the lives
of New Zealand babies. |
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| 23.02.2006 |
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_________________________________________________ |
|
|
| If you're like most
expecting parents, you probably alternate between fantasies
about a healthy baby and worries that your baby will have a
health problem. Or...... |
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|
| 22.02.2006 |
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_________________________________________________ |
|
|
| La regionalizzazione della
Sanità ha inciso anche nel settore delle malattie rare. Un
decreto, il 279 del 2001, doveva mettere ordine nella
materia con la ..... |
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|
| 19.02.2006 |
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_________________________________________________ |
|
Newletter of rare Diseases Task Force - February,
2006 |
|
| Orpha-News Europe |
|
|
| 17.02.2006 |
|
_________________________________________________ |
|
Amicus Therapeutics' AT2101
Granted Orphan Drug Designation for the Treatment of
Gaucher Disease |
|
| Amicus Therapeutics, a
biopharmaceutical company developing small molecule,
orally-active pharmacological chaperones for the...... |
|
|
| 15.02.2006 |
|
_________________________________________________ |
|
Un
premio per i cittadini migliori |
|
Terzo appuntamento con la
festa solidale organizzata dai Lupos di Mosniga
E’ stata una grande festa per premiare generosità e
solidarietà: uno spettacolo.... |
|
|
| 14.02.2006 |
|
_________________________________________________ |
|
Lawmakers want to end storing of blood samples |
|
|
A state lawmaker said Monday she'll push to
help parents keep their children's genetic information out
of a state Health Department database. |
|
|
| 13.02.2006 |
|
_________________________________________________ |
|
SANITA': MALATTIE RARE, RICERCA ANCHE SU DATI
GENETICI /RPT |
|
| Nei prossimi mesi,
probabilmente entro giugno, l'Autorita' garante per la
protezione dei dati personali adottera' un provvedimento
di.... |
|
|
| 13.02.2006 |
|
_________________________________________________ |
|
Malattie rare, seconda giornata regionale a Pisa |
|
| L’Organizzazione Mondiale
della Sanità stima il numero delle malattie rare intorno a
6.000. La maggior parte sono croniche, progressive e
creano..... |
|
|
| 10.02.2006 |
|
_________________________________________________ |
|
Malattie croniche,
bimbi ora curati anche a scuola |
|
|
Quasi duemila
e cinquecento bambini e ragazzi bresciani tra i 3 e i 19
anni soffrono di patologie croniche, che li costringono ad
assumere regolarmente medicinali. |
|
|
| 10.02.2006 |
|
_________________________________________________ |
|
Dunbar boy with brain disease making
progress
|
|
| A
6-year-old Dunbar boy who has been fighting a genetic brain
disease for several months is making some progress, his
mother said. |
|
|
| 09.02.2006 |
|
_________________________________________________ |
|
Inborn error of metabolism:Hartnup
disease |
|
|
Hartnup disease is an inherited inborn error
of metabolism of amino acids in the small intestine and
kidneys. Most individuals do not have symptoms, but exposure
to...... |
|
|
| 01.02.2006 |
|
_________________________________________________ |
|
MYOZYME RICEVE IL PARERE
POSITIVO DALL’ENTE REGOLATORE EUROPEO |
|
|
Genzyme Corp. Rende noto che il comitato Chmp (Committee for
Human Medicinal Products) dell'Emea (European Medicines..... |
|
|
| 01.02.2006 |
|
_________________________________________________ |
|
Journal of Inherited
Metabolic Disease |
|
| February 2006 |
|
|
| 01.02.2006 |
|
_________________________________________________ |
|
Eurordis Newsletter Febbraio 2006 |
|
| Eurordis |
|
|
| 31.01.2006 |
|
_________________________________________________ |
|
Eurordis Newsletter February 2006 |
|
| Eurordis |
|
|
| 31.01.2006 |
|
_________________________________________________ |
|
BioMarin
Receives Marketing Approval for Naglazyme in
European Union. |
|
| BioMarin Pharmaceutical
Inc. (Nasdaq and SWX: BMRN) announced today that the
European Commission has granted marketing authorization for
Naglazyme(TM) (galsulfase),...... |
|
|
| 30.01.2006 |
|
_________________________________________________ |
|
EMEA - Committee
For Medicinal Products For Human Use - 23-26 January
2006 - Initial Marketing Authorisation Applications |
|
| The Committee for
Medicinal Products for Human Use (CHMP) adopted a positive
opinion on an initial marketing authorisation application
for Myozyme (recombinant...... |
|
|
| 29.01.2006 |
|
_________________________________________________ |
|
Inner strength: A Jackson woman fights a
little-known disease with all the hope she can
muster — and her family |
|
|
It's the little things Kristine Moskal says she misses the
most. Lifting and carrying her four sons. ..... |
|
|
| 29.01.2006 |
|
_________________________________________________ |
|
Myozyme(R) Receives Positive Opinion From European
Regulatory Committee |
|
| Genzyme Corp. announced
today that the Committee for Human Medicinal Products (CHMP)
of the European Medicines Agency has adopted a positive
opinion on the ... |
|
|
| 27.01.2006 |
|
_________________________________________________ |
|
A real time look at interactions between RNA and
proteins |
|
| For the first time,
researchers can now peer inside intact cells to not only
identify RNA-binding proteins, but also observe–in real-time–the
intricate activities of these special...... |
|
|
| 27.01.2006 |
|
_________________________________________________ |
|
Malattie rare: poche ricerche, pochi farmaci |
|
| Si chiamano farmaci orfani
e sono chiamati così perché non hanno padri che facciano da
sponsor e li producano sapendo che non sarà un investimento
redditizio.... |
|
|
| 27.01.2006 |
|
_________________________________________________ |
|
Newsletter of Rare Diseases Task Force - Jannuary,
2006 |
|
| Orpha-News Europe |
|
|
| 26.01.2006 |
|
_________________________________________________ |
|
Caitlin continues her fight against rare disease |
|
|
TEN-year-old Caitlin Stewart is about to
benefit from the £25,000 raised by the residents of Duns and
surrounding area...... |
|
|
| 26.01.2006 |
|
_________________________________________________ |
|
Healthy cells heal their damaged neighbours |
|
| Healthy cells seem to have
shown an amazing ability to breathe new life into damaged
ones by rejuvenating their defunct mitochondria HEALTHY
cells seem to...... |
|
|
| 26.01.2006 |
|
_________________________________________________ |
|
BioMarin Receives FDA Fast Track Designation for
Phenoptin for PKU |
|
| BioMarin Pharmaceutical
Inc. (Nasdaq and SWX: BMRN) announced today that the U.S.
Food and Drug Administration (FDA) has granted Fast Track
designation for Phenoptin(TM)..... |
|
|
| 25.01.2006 |
|
_________________________________________________ |
|
SIDS risk higher among the poor |
|
| Two decades of data
collected by a team of British scientists indicates the
importance of factors most likely to contribute to sudden
infant death syndrome, or SIDS, have..... |
|
|
| 23.01.2006 |
|
_________________________________________________ |
|
Se la malattia è rara
per Comuni e Asl non esiste neppure
|
|
| Luca ha 14 anni e fin da
piccolo ha avuto difficoltà ad articolare le parole,
rifiutava il cibo. Sembravano problemi normali, ma era stato
colpito dalla sindrome di Asperger. |
|
|
| 22.01.2006 |
|
_________________________________________________ |
|
SANITA'. Liguria, stop al ticket per chi è affetto
da patologie croniche e malattie rare |
|
|
Il Consiglio
regionale della Liguria,
accogliendo una richiesta del Partito della
Rifondazione Comunista, ha approvato all'unanimità un ordine
del giorno che..... |
|
|
| 20.01.2006 |
|
_________________________________________________ |
|
SALUTE. In Piemonte attivato il registro delle
malattie rare |
|
|
L'Assessorato alla tutela
della salute e sanità della Regione Piemonte ha
messo a punto una serie di progetti volti alla protezione e
alla tutela dei pazienti affetti da...... |
|
|
| 19.01.2006 |
|
_________________________________________________ |
|
Allargare la sperimentazione del "Registro per le
malattie rare" |
|
|
Allargare
la sperimentazione del "Registro per le malattie rare" del
Nordest con due regioni del Nord Europa e due dell'area
mediterranea, anche con..... |
|
|
| 19.01.2006 |
|
_________________________________________________ |
|
Cinquemila patologie differenti Ventimila pazienti
solo nel Veneto |
|
|
Le
malattie rare non costituiscono un unico gruppo omogeneo di
forme, ma comprendono patologie che interessano tutti gli
organi, le cause e le età .... |
|
|
| 19.01.2006 |
|
_________________________________________________ |
|
Theiner al vertice
sulle malattie rare: il modello regionale da
esportare in Europa |
|
|
Estendere ad altre regioni europee
l’esperienza di cooperazione di Alto Adige, Trentino, Veneto
e Friuli nella lotta alle malattie rare: di questo ha
discusso..... |
|
|
| 17.01.2006 |
|
_________________________________________________ |
|
Scientists design a fluorescent
sensor capable of measuring intracellular acidity |
|
|
The colouring agents traditionally used
to stain organic tissues are no longer sufficient to meet
today's needs. The study of cell metabolism can only advance
with..... |
|
|
| 16.01.2006 |
|
_________________________________________________ |
|
Journal of Alzheimer's Disease is devoted to metal
ions and neurodegenerative diseases |
|
| The human body contains
many metals, from the iron in hemoglobin to the calcium in
bones. Other metals, usually in trace amounts, participate
in many metabolic and..... |
|
|
| 12.01.2006 |
|
_________________________________________________ |
|
CETT Program in U.S. for rare genetic diseases |
|
| CETT
Program in U.S. for rare genetic diseases Genetic
testing for rare diseases is essential in the diagnosis and
medical care of individuals with inherited diseases and..... |
|
|
| 12.01.2006 |
|
_________________________________________________ |
|
Valpreda sull'indagine in corso sui test biochimici
non autorizzati sui neonati |
|
| In merito all'indagine in
corso sui due medici dell'Ospedale Regina Margherita
accusati di aver effettuato test biochimici non autorizzati
sui neonati, l'assessore regionale alla.... |
|
|
| 11.01.2006 |
|
_________________________________________________ |
|
TORINO. SCOPPIA LO
SCANDALO ALL’OSPEDALE INFANTILE REGINA MARGHERITA |
|
|
Per consentire a una casa farmaceutica di vendere quantità
di farmaci costosissimi contro alcune malattie rare ma
mortali, due medici dell’ospedale Regina.... |
|
|
| 11.01.2006 |
|
_________________________________________________ |
|
BioMarin Establishes
Commercial Operations in Europe |
|
|
BioMarin Pharmaceutical Inc. (Nasdaq and SWX: BMRN)
announced today that it has established commercial
operations in Europe in anticipation of receiving European..... |
|
|
| 10.01.2006 |
|
_________________________________________________ |
|
Screening per i neonati in ospedale |
|
| Screening completo per i
neonati: al via innovativo progetto della Asl numero uno.
Dal primo gennaio di quest'anno i bambini nati nei punti
nascita.... |
|
|
| 06.01.2006 |
|
_________________________________________________ |
|
Florida hospitals will screen newborns for more than
30 disorders |
|
| TALLAHASSEE · Screening
for more than 30 disorders in newborns will expand to all
Florida maternity hospitals later this month, the Department
of Health said Tuesday. |
|
|
| 04.01.2006 |
|
_________________________________________________ |
|
Strategy For Treatment Of Krabbe's Disease, A Fatal
Nervous System Disorder |
|
|
Working with mice, University of
Wisconsin-Madison researchers have developed the basis for a
therapeutic strategy that could provide hope for children
afflicted with..... |
|
|
| 01.01.2006 |
|
_________________________________________________ |
|
Potential Cause Of Breathing Problems For Rett
Syndrome Found |
|
|
A multi-institutional team, led by University
of Chicago researchers, has taken a crucial step toward
..... |
|
|
| 01.01.2006 |
|
_________________________________________________ |
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|