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Genomics|Features|Rare Diseases

Rare Diseases

Rare Disease Day: Genomics and Public Health - February 24, 2015

Rare Disease Day at NIH
On February 27, 2015, the National Institutes of Health (NIH) will celebrate the eighth annual Rare Disease Day with a day-long celebration

Rare Disease Day USA
Alone we are rare, together we are strong

World Rare Disease Day 2015- Global Genes Project
World Rare Disease Day is an annual observance held on the last day of February

National Organization for Rare Disorders 
NORD provides advocacy, education and other services to improve the lives of all people affected by rare diseases.

Clinical exome sequencing for genetic identification of rare Mendelian disorders.
Lee Hane et al. JAMA 2014 Nov 12. (18) 1880-7

Molecular findings among patients referred for clinical whole-exome sequencing.
Yang Yaping et al. JAMA 2014 Nov 12. (18) 1870-9

Genome-scale sequencing in clinical care: establishing molecular diagnoses and measuring value.
Berg Jonathan S et al. JAMA 2014 Nov 12. (18) 1865-7

Rare & Mysterious Diseases: Emerging Role of Genomics - June 11, 2014

Rare diseases: From bench to bedside to public health A 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