lunes, 16 de junio de 2014

Rare & Mysterious Diseases: Emerging Role of Genomics


Genomics & Health Impact Update

Rare & Mysterious Diseases: Emerging Role of Genomics

rare diseases iwth DNA
Rare diseases: From bench to bedside to public healthA theme issue of Public Health GenomicsExternal Web Site Icon (2014)
Thousands of rare genetic diseases collectively affect millions of people in the United States.External Web Site Icon Find out from the NIH Genetic Testing Registry what are the genetic conditions and genetic tests associated with rare genetic diseases
NIH Genetic and Rare Diseases Information Center:External Web Site Icon information specialists to answer questions in English and Spanish from the general public, including patients and their families, health care professionals and biomedical researchers.
FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery ProjectExternal Web Site Icon
Chandree L. Beaulieu et al. Am J Human Genetics, June, 2014
Actionable diagnosis of neuroleptospirosis by next-generation sequencingExternal Web Site Icon
Wilson M, et al. New England J of Med. 2014 Jun 4
In a first, test of DNA finds root of illness,External Web Site Icon by Carl Zimmer, New York Times, Jun 4

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