Lack of data hinders treatments for rare genetic diseases

The GLP aggregated and excerpted this blog/article to reflect the diversity of news, opinion and analysis.

I participated in a Rare Disease Day program in February at the Sanford Burnham Prebys Medical Discovery Institute in La Jolla, California. It was quite memorable.

In the United States, a rare disease is defined as one that affects fewer than 200,000 patients. Their aggregate toll is huge: There are more than 6,800 of these conditions known, affecting more than 25 million Americans. The small numbers of patients can make gathering information and designing drug studies difficult, and there are treatments available for only a couple of hundred of these diseases.

Little is known about what causes the mutations that give rise to “Congenital Disorders of Glycosylation,” or CDGs, and there are treatments for only a few. Some of the mutations are considered “very, very rare,” and are found in only dozens or hundreds of patients worldwide.

In addition to the scientific attendees and me–I was there to discuss the intersection of science, medicine and public policy–a couple dozen kids affected by CDGs and their families were in the audience.  They made a profound and indelible impact on me.

Watching the parents was difficult, too. Some were hyper-alert, asking lots of questions stimulated by having devoured every scientific paper and blog and Google article in existence; others just seemed confused.

Read full, original post: Genetic Catastrophes: A Tale Of Science, Medicine And Suffering

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