Rare & Mysterious Diseases: Emerging Role of Genomics

Genomics|Update|Current

Rare & Mysterious Diseases: Emerging Role of Genomics

Rare diseases: From bench to bedside to public healthA theme issue of Public Health Genomics (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

NIH Genetic and Rare Diseases Information Center: information specialists to answer questions in English and Spanish from the general public, including patients and their families, health care professionals and biomedical researchers.

Solving the mystery of rare diseases with genomic technology & crowdfunding,  TEDMED You Tube Video

FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project
Chandree L. Beaulieu et al. Am J Human Genetics, June, 2014

The Canadian rare disease genetic breakthrough: Not all medical discoveries are created equally, CVID, Primary Immune and Rare Diseases Blog, Jun 10

Genome sequencing identifies major causes of severe intellectual disability
Gilissen C, et al. Nature 2014 Jun 4

Actionable diagnosis of neuroleptospirosis by next-generation sequencing
Wilson M, et al. New England J of Med. 2014 Jun 4

In a first, test of DNA finds root of illness, by Carl Zimmer, New York Times, Jun 4

Rare mutations in RINT1 predispose carriers to breast and Lynch syndrome-spectrum cancers
Park D, et al. Cancer Discovery 2014 May 2