2008 National DNA Day Online Chatroom Transcript
This is just one question from an archive of the National DNA Day Moderated Chat held in April 2008. The NHGRI Director and many genomics experts from across NHGRI took questions from students, teachers and the general public on topics ranging from basic genomic research, to the genetic basis of disease, to ethical questions about genetic privacy.
| 280 |
What do you know about rare diseases? Tell me!
| |
William Gahl, M.D.:
Studying rare inborn errors of metabolism through the observation and treatment of patients in the clinic and through biochemical, molecular biological, and cell biological investigations in the laboratory. His lab focuses on a number of disorders, including cystinosis, Hermansky-Pudlak syndrome, alkaptonuria, and sialic acid diseases.
Hi,
There are over 6000 rare diseases, and these affect millions of Americans. I would guess that someone l close to you is affected by a rare disease.
It often takes a long time to diagnose such disorders, on average about 5 years. This is a real problem, and what the country needs is more experts in this area.
Often, the things we learn about rare diseases are applicable to common diseases that affect us all.
We study rare diseases for many reasons, but two of the major reasons are that they teach us about the chemical pathways that operate normally, and because patients with these disorders are often quite alone, and have a difficult time obtaining medical assistance.
For more information, you might Google the Office of Rare Diseases at the NIH.
Keep learning!
|
| Therizino (6th grade student) |
|
