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News Archivies 2006
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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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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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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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_________________________________________________ |
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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 |
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BioMarin Pharmaceutical Inc. (Nasdaq
and SWX: BMRN) today announced positive results from the
pivotal Phase 3........ |
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| 18.12.2006 |
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Scientific American.com
Profiles First Human Neural Stem Cell Transplant in
the Country |
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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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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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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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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. ....... |
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| 17.12.2006 |
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_________________________________________________ |
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Amicus
Therapeutics Commences Phase 1 Clinical Trials for
AT2220 for Pompe Disease |
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Amicus Therapeutics, a
biopharmaceutical company developing small molecule,
orally-administered pharmacological chaperones.... |
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| 14.12.2006 |
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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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_________________________________________________ |
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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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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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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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Hope for O.C. boy rides
on stem cells |
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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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Investigator in Phase I Clinical Trial for Batten
Disease to Present at Lysosomal Disease Network
World Symposium |
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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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_________________________________________________ |
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College students flock
to screening for Jewish genetic diseases |
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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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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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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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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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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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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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Maple Syrup Urine
Disease hits family |
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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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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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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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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 |
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| 22.11.2006 |
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Newsletter Summer 2006 |
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| 21.11.2006 |
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_________________________________________________ |
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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
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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 |
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The National Human Genome
Research Institute (NHGRI) today announced the results of
the recent competition for support of its three |
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| 20.11.2006 |
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PerkinElmer
Selected for Expanded Neonatal Screening of Every
Newborn in the Netherlands |
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PerkinElmer, Inc. a global
leader in Health Sciences and Photonics, today announced
that it has been selected to...... |
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| 17.11.2006 |
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StemCells
Begins Study on Rare Disease |
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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...... |
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| 15.11.2006 |
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_________________________________________________ |
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Parents of Galactosemic
Children, Inc. |
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| 14.11.2006 |
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“BURLO,
BASTA PIAGNISTEI” |
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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. . |
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| 07.11.2006 |
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Handling
Genetic Disorders - A Mitochondrial Disease Family's
Story |
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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...... |
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| 06.11.2006 |
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What
is Tay-Sachs disease? |
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Tay-Sachs
is a fatal genetic disorder that causes progressive
destruction of the central nervous system. |
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| 05.11.2006 |
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_________________________________________________ |
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Scientists
discover gene causing rare lysosomal storage disease |
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Czech scientists have
discovered a gene that causes mucopolysaccharidoses, type
III, a rare metabolism disorder in which the body cannot |
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| 26.10.2006 |
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Porfirie:
San Gallicano è riferimento per la diagnosi |
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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 |
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| 26.10.2006 |
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Cura
per la malattia di Pompe |
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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,.......... |
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| 25.10.2006 |
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Medicine
gives boy’s family reason to hope |
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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..... |
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| 24.10.2006 |
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New
Technology Predicted To Revolutionize Genetic
Analysis Of Preimplantation Embryos |
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The Center announced today it
has a patent pending, all rights reserved, for a new
screening technology to identify chromosome abnormalities,
single gene mutations,.... |
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| 22.10.2006 |
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Metabolic
Disorder Underlies Huntington's Disease |
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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. |
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| 20.10.2006 |
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Replagal:
First Therapy To Provide New Hope For Children With
Fabry Disease |
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The European Medicines Agency
(EMEA) has announced a licence variation for REPLAGAL (agalsidase
alfa) to include children with Fabry disease from seven
years of |
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| 20.10.2006 |
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ELAPRASE™
(idursulfase) receives positive opinion in Europe |
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Shire plc today reported
that the Committee for Medicinal Products for Human Use (CHMP)
of the European Medicines Agency (EMEA) issued a positive
......... |
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| 19.10.2006 |
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_________________________________________________ |
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Niemann-Pick
Disease Fundraiser At Senior Center Sunday |
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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 ....... |
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| 18.10.2006 |
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'Overwhelming'
response to fundraiser helps little girl with rare
disease |
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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,....... |
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| 16.10.2006 |
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Newborn
testing saving lives |
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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....... |
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| 13.10.2006 |
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|
Newsletter n. 7 |
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| 11.10.2006 |
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Newest American Baby Faces Health Challenges |
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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. |
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| 11.10.2006 |
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Da domani il Centro
dell’hotel Flaminio ospita tre congressi scientifici
di straordinaria importanza |
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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 |
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Newsletter
of Rare Diseases Task Force |
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| 10.10.2006 |
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Nutra Pharma
Announces Final Approval to Begin Phase IIb Human
Clinical Trial for the Treatment of
Adrenomyeloneuropathy |
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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 ...... |
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| 05.10.2006 |
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Tests
have identified 40 cases of disease |
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In December, Kentucky began
testing all newborns for an expanded list of
life-threatening metabolic problems and diseases, 29 in all.
Previously, the state...... |
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| 03.10.2006 |
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Testing helps save newborns |
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Leslie Preston and Laura
Warth-Leach already had plenty in common, even before they
had babies in their arms......... |
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| 03.10.2006 |
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One
Donor Organ Saves Two Lives In Rare Transplant |
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Surgeons at Children's
Hospital of Pittsburgh and UPMC saved two patients using a
technique known as a domino transplant. |
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| 28.09.2006 |
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Newborn Screening
Method Discovered for Pediatric Disease Made Famous
in 1992 Motion Picture, Lorenzo's Oil |
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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 |
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| 27.09.2006 |
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Stem Cell Clinical
Trial to Treat Children |
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The first clinical trial to
transplant stem cells to treat a brain disease is set to get
under way this year. ...... |
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| 23.09.2006 |
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Nasce il nuovo 'Patto per la Salute' che avrà una
durata triennale |
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Dopo un lungo incontro
iniziato questa mattina alle 9.30 al Ministero dell'Economia
e delle Finanze è stato raggiunto l'accordo tra regioni |
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| 22.09.2006 |
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_________________________________________________ |
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Studies Published
In PNAS On The Mechanism Of Amicus' Experimental
Treatment For Gaucher Disease |
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Amicus
Therapeutics, a biopharmaceutical company developing small
molecule, orally- administered pharmacological chaperones
for the treatment of a range of human |
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| 21.09.2006 |
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_________________________________________________ |
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Settimana Internazionale delle Malattie Rare |
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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.......... |
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| 18.09.2006 |
|
_________________________________________________ |
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National Institutes of Health launches user-friendly
Web site |
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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 |
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| 17.09.2006 |
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_________________________________________________ |
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Teen
with rare disease looks to his future |
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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. |
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| 13.09.2006 |
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_________________________________________________ |
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September is National Newborn Screening Awareness
Month |
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September is National Newborn
Screening Awareness Month, and according to the American
College of Medical Genetics (ACMG),......... |
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| 12.09.2006 |
|
_________________________________________________ |
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BioMarin and Serono
Announce Data on Phenoptin in PKU to be Presented at
the 56th Annual Meeting of the American Society of
Human Genetics |
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|
BioMarin Pharmaceutical Inc.
and Serono today announced data from clinical studies
of Phenoptin(TM) (sapropterin dihydrochloride), an
investigational oral small-molecule therapeutic.... |
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| 12.09.2006 |
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_________________________________________________ |
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National
Gaucher Foundation Hosts 'September Summit' of
Jewish Community and Healthcare Leaders to Fight
Jewish Genetic Disease |
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In response to alarming new
data that only six percent of the American Jewish population
is aware of Gaucher (Pronounced....... |
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| 12.09.2006 |
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_________________________________________________ |
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BioMarin Provides Update on Phenylase Product
Development |
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BioMarin Pharmaceutical Inc.
announced today that investigators presented data from
preclinical studies of Phenylase(TM) (phenylalalanine
ammonia lyase)....... |
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| 11.09.2006 |
|
_________________________________________________ |
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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....... |
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| 10.09.2006 |
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_________________________________________________ |
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|
Newsletter
of Rare Diseases Task Force |
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|
| 08.09.2006 |
|
_________________________________________________ |
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L'eurovigile dei
farmaci parte da Reggio Emilia |
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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.... |
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| 08.09.2006 |
|
_________________________________________________ |
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OVATION and Cardinal Health Announce FDA Approval
Letter for Manufacturing of Biologic Therapy To
Treat Rare Genetic Disorder |
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|
OVATION Pharmaceuticals, Inc.
and Cardinal Health, Inc., announced today that the U.S.
Food and Drug Administration (FDA) issued |
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| 06.09.2006 |
|
_________________________________________________ |
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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 |
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| 31.08.2006 |
|
_________________________________________________ |
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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 ..... |
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|
| 28.08.2006 |
|
_________________________________________________ |
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|
Newsletter n. 6 |
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| 25.08.2006 |
|
_________________________________________________ |
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Young
Girl Ill With Rare Disease: Fundraiser is Planned
for Her at ACD Festival |
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|
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.... |
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| 24.08.2006 |
|
_________________________________________________ |
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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 |
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| 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... | |