From Hospital To Home on Christmas

We started Christmas Eve day in the San Francisco Bay Area at Children’s Hospital Oakland where Dr. Caroline Hastings gave Addi and Cassi their sixth injections of cyclodextrin into their central nervous systems. By 1 pm, Addi and Cassi were feeling a lot better and we raced home on Highway 80 up over Donner Summit, [...]

Creating Hope Act 2010 Bill Would Extend Priority Review Voucher System To Rare Pediatric Diseases

Great news for the pediatric rare disease community came out late last week — rare disease advocates please get this out on your blogs! Senators Sam Brownback (R-KS), Sherrod Brown (D-OH), and Al Franken (D-MN) are supporting the bipartisan bill S. 3697, the “Creating Hope Act of 2010.” Nancy Goodman, Executive Director of Kids v [...]

Alzheimer’s Patients Presenilin 1 Gene Defect Causes A Lysosomal Storage Disorder

A research paper by Dr. Ralph Nixon, director of the Center of Excellence on Brain Aging and the Silberstein Alzheimer’s Institute at NYU Langone Medical Center, was published today in the journal Cell reporting that Alzheimer’s patients with genetic mutations in the presenilin 1 gene have disruptions in the cellular protein recycling process mechanisms in [...]

Orphan Drug Act – A Collosal Failure Considering Rare Disease Drug Statistics

For the past week, I have been obsessing over rare disease statistics ever since it was published that 80% of all rare diseases are ‘ultra orphans’ – affecting 6,000 people per disease state or less – and only 15% of all rare disease drug applications filed with the FDA are for ‘ultra orphans.’ Yesterday, I [...]

FDA Grants Orphan Drug Status For Cyclodextrin Compound To Treat Fatal Genetic Cholesterol Disease

Drum roll, please! Dr. Caroline Hastings at Children’s Hospital Oakland and Research Center received a call on Friday afternoon from the U.S. Food and Drug Administration regarding the orphan drug submission we made at the end of February. While we have not received the official letter by mail (probably next week), it appears our Orphan [...]

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