Rare Diseases: From Bench to Bedside to Public Health

Genomics|Update|Current

Rare Diseases: From Bench to Bedside to Public Health

A theme issue of Public Health Genomics (February 2014) 

New and Evolving Rare Diseases Research Programs at the National Institutes of Health 
Groft S.C. and Rubinstein Y.R. Public Health Genomics2013;16:259-267

Biomarkers in Rare Diseases 
Ferlini A, et al.  Public Health Genomics 2013;16:313-321

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

The high cost of rare disease drugs: Six-figure treatment prices continue to climb for orphan therapeutics, by Alex Philippidis, Gen, Mar 4

New Canadian rare diseases portal launched, PHG Foundation, Mar 5

UK strategy for rare diseases,  [PDF 316.48 KB] NHS England Statement of Intent