domingo, 2 de marzo de 2014

February 28 is “Rare Disease Day” – FH is a Rare Disease That’s Just Not That Rare | FPIM

February 28 is “Rare Disease Day” – FH is a Rare Disease That’s Just Not That Rare | FPIM



Rare Diseases: The Role of Genomics

chromosomes
Rare disease sleuths uncover new clues to stroke,External Web Site Iconby Dr. Francis Collins, NIH Director’s Blog, Feb 25
Rare Disease DayExternal Web Site Icon at NIH is on February 28, 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

Identification of genes for childhood heritable diseases.External Web Site Icon 
Kym M. Boycott et al, Annual Review of Medicine Vol. 65: 19-31 (2014)
Rare diseases in clinical practice,External Web Site Icon from the National Genetics and Genomics Resource Center, UK
How is genetic testing applied in rare diseases?External Web Site Icon From the National Genetics and Genomics Resource Center, UK
Genome sequencing for rare diseases,External Web Site Icon by Anne Buchanan, The Mermaids Tale Blog, Feb 27

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