Rare Diseases: Public Health and Genomic Insights - September 18, 2015

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Rare Diseases

Rare Diseases: Public Health and Genomic Insights - September 18, 2015

The deans’ genes and precision medicine: A journey of discovery and hope, by Don Dean, HHLS Blog Post, September 17, 2015

Tess’s tale: Social media catalyzes rare disease diagnosis, Ricki Lewis, PLosS Blogs, September 17, 2015

The UK10K project identifies rare variants in health and disease
UK10K Consortium, Nature, September 14, 2015

Sifting DNA databases for the right diagnosis
Genetic analysts can now more quickly identify rare illnesses, Bloomberg News, Sepetmber 10, 2015

The growing importance of genomics for rare disease, Genomics Education Program, August 2015

How to find a specialist, from the NIH Genetics and Rare Diseases Information Center

The NIH Undiagnosed Diseases Network

Highlights from Rare Disease Day 2015

European rare diseases day: Top facts on EU action,  [PDF 121.93 KB] Eurepean Commision, February 2015

Living with a rare disease: Rare Disease Day 2015 
Paying tribute to the millions of families whose daily lives are impacted, and who are living day-by-day, hand-in-hand with rare disease patients. Sam Rose 27 Feb 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

Genome Sequencing in Undiagnosed Diseases: Recent Insights - March 20, 2015

A genome sequencing program for novel undiagnosed diseases
Bloss C. et al. Genetics in Medicine, March 19, 2015

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
Zhu X et al. Genet. Med. 2015 Jan 15.

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.
Wright CF et al. Lancet 2014 Dec 16.

Exome sequencing in undiagnosed inherited and sporadic ataxias.
Pyle A et al. Brain 2015 Feb (Pt 2) 276-83

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
Farwell KD et al. Genet. Med. 2014 Nov 6.

Exome sequencing for gene discovery in lethal fetal disorders - harnessing the value of extreme phenotypes.
Filges I et al. Prenat. Diagn. 2014 Jul 21.

Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families.
Makrythanasis P et al. Hum. Mutat. 2014 Oct (10) 1203-10

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