Rare Diseases: The Role of Genomics

Genomics|Update|Current

Rare Diseases: The Role of Genomics

Rare disease sleuths uncover new clues to stroke,by Dr. Francis Collins, NIH Director’s Blog, Feb 25

Rare Disease Day at NIH is on February 28, 2014

Thousands of rare genetic diseases collectively affect millions of people in the United States. Find out from the NIH Genetic Testing Registry what are the genetic conditions and genetic tests associated with rare genetic diseases

Identification of genes for childhood heritable diseases. 
Kym M. Boycott et al, Annual Review of Medicine Vol. 65: 19-31 (2014)

Rare diseases in clinical practice, from the National Genetics and Genomics Resource Center, UK

How is genetic testing applied in rare diseases? From the National Genetics and Genomics Resource Center, UK

Genome sequencing for rare diseases, by Anne Buchanan, The Mermaids Tale Blog, Feb 27

February 28 is "Rare Disease Day" – FH is a rare disease that's just not that rare, by Seth Baume, FPIM Blog, Feb 26