Carrier Screening in the Era of Genomic Medicine
“It’s not so bad to find out that you are a carrier…[but] finding out that you are a carrier of SMA [spinal muscular atrophy] from your child dying is the wrong way to do it.” -Deborah Heine, executive director of the Claire Altman Heine Foundation Like many parents of children with rare genetic diseases, Deborah [...]
'THE HILL' Reports: Help children with rare diseases get the new medicines they need
Having a seriously ill child is always difficult and painful. It’s even more so when a child’s illness is one of the 7,000 rare diseases for which cures and treatments are hard to find. Rare diseases affect more than 15 million children in the United States. A disease is considered rare if it affects less [...]
The Global Genes Project Aims to Battle Rare Disease Through the 'Vote4Hope' Campaign and Pepsi Refresh Competition
The Global Genes Project Aims to Battle Rare Disease Through The ‘Vote4Hope’ Campaign and Pepsi Refresh Competition Over 15 Million Children in America Are Estimated To Suffer From 7000 Unique Rare Diseases; Children Unite As ‘Ambassadors of Hope’ To Win $250K Pepsi Grant For The Global Genes Fund DANA POINT, CA – September 1, 2010 [...]
New York Times Reports on Cystic Fibrosis Advancements
For everyone planning to attend Uniting Rare Diseases, Advancing Rare Disease Research: The Intersection of Patient Registries, Biospecimen Repositories and Clinical Data, NIH/ORDR Workshop in Bethesda, Maryland on January 11-12, 2010 : Must read this fascinating article in the New York Times this week on cystic fibrosis, article here. Also, don’t forget to check out [...]
Clinical Trials for Rare Disease Patients – Legislation needs your support!
We wanted you to be aware of pending Federal legislation that may be significant for you and for our rare disease community. In June, legislation that enables individuals with rare diseases to participate in clinical trials without losing eligibility for public healthcare benefits was sponsored by Senators Ron Wyden (D-OR), Christopher Dodd (D-CT), Richard Durbin [...]