Progeria, Rare Diseases & Translational Genomics
Progeria: A paradigm for translational medicine.
Leslie Gordon, Cell, Volume 156, Issue 3, 400-407, 30 Jan 2014
Leslie Gordon, Cell, Volume 156, Issue 3, 400-407, 30 Jan 2014
In memory of Sam Berns, by Dr. Francis Collins, NIH Director, NIH blog post, Jan 12
by Dr. Francis Collins, NIH Director, NIH blog post, Jan 12What do we know about heredity and progeria?From the National Human Genome Research Institute, Dec 2013
From the National Human Genome Research Institute, Dec 2013Progeria is one of thousands of rare genetic diseases that 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
Identification of genes for childhood heritable diseases.
Kym M. Boycott et al. Annual Review of Medicine Vol. 65: 19-31 (2014)
Kym M. Boycott et al. Annual Review of Medicine Vol. 65: 19-31 (2014)
Technology is helping to give genetic disorders a name, by Philippa Roxby Health reporter, BBC News, Feb 1
by Philippa Roxby Health reporter, BBC News, Feb 1Rare Disease Day at NIH
February 28 ~ Bethesda, MD
February 28 ~ Bethesda, MD
Advancing rare diseases research, honoring a long-serving champion for patients, Christopher P. Austin, Director; National Center for Advancing Translational Sciences, Feb 4
Christopher P. Austin, Director; National Center for Advancing Translational Sciences, Feb 4
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