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Research Funding:

National Institute of Neurological Disorders and Stroke : NINDS

National Institute of Diabetes and Digestive and Kidney Diseases : NIDDK

National Institute of Child Health & Human Development : NICHD

The author’s work on Lesch-Nyhan disease is supported in part by grants from the NIH (HD053312, DK82840, and NS067501).

Needles in haystacks: the challenges of rare diseases


Journal Title:

Developmental Medicine And Child Neurology


Volume 53, Number 1


, Pages 6-7

Type of Work:

Article | Post-print: After Peer Review


Rare diseases are always a real challenge. The first test is to remember the myriads of often obscure but frequently tell-tale clinical signs that lead to suspicion for a specific disease. The next is to recognize these signs in the clinic, something that is not easy unless you are looking for them. Then there is the difficulty of figuring out the appropriate diagnostic work-up. Getting samples to the right diagnostic centers often presents a logistical problem, and when the results return, how to manage the condition. Comprehensive care is particularly challenging, due to frequently hidden comorbidities. So how are these challenges to be handled for more than 3000 rare diseases?

Copyright information:

© The Authors. Journal compilation © Mac Keith Press 2010

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