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News Release
When it comes to Attention-Deficit/Hyperactivity Disorder (ADHD), genetics do make an impact.
… advancement. What's more, ADHD is a leading risk for mood disorders, substance abuse and even car accidents. With this …
Educational Resources
Risk, in the context of genetics, refers to the probability that an individual will be affected by a particular genetic disorder.
Staff
Dr. ​Adam Felsenfeld is a program director in the Division of Genome Sciences at the National Human Genome Research Institute.​
… genome sequencing, DNA sequencing, common diseases, rare diseases … Adam Felsenfeld, genome sequencing, DNA sequencing, common diseases, rare diseases … Dr. ​Adam Felsenfeld is a program director in …
Research at NHGRI
The Translational and Functional Genomics Branch explores the genetic, epigenetic and metagenomic basis of human disorders.
… the genetic, epigenetic and metagenomic basis of human disorders. … TFGB researchers have developed a wide range of … into improved diagnoses and therapeutics for human disorders. … Overview … Branch Staff … Translational and … the genetic, epigenetic and metagenomic basis of human disorders. ​ … The Translational and Functional Genomics …
News Release
Researchers recommend genomic approaches to discovering inherited variants in one or a handful of genes that affect an individual's rare disease risk.
… are millions of variants in the human genome, and most are rare and do not have a big impact on health. This will likely … often, clinicians and researchers studying a family with a rare disease encounter DNA mutations or variants that appear … recommended a set of genomic approaches to implicating rare, inherited variants involving one or a handful of genes …
News Release
Using a recently developed DNA base-editing technique, researchers correct accelerating aging disorder.
… with the genetic variation associated with progeria, a rare genetic disease that causes extreme premature aging in …
News Release
UDN members have published a how-to guide for diagnosing medical mysteries for medical centers nationwide outline the framework for how this can be successful.
… The network's goals? Accelerate the diagnosis of rare or previously unrecognized diseases; improve clinical management of these disorders; and advance research. … Building the UDN has … Undiagnosed Diseases Network … Accelerating Diagnosis of Rare Diseases … Related Content … UDN guide to diagnosing …
News Release
The U.S. Food and Drug Administration has approved the first treatment for progeria, a rare and fatal pediatric disease, characterized by dramatic, rapid aging beginning in childhood.
… M.D., Ph.D., available to discuss this major advance for rare, fatal pediatric disease. … What The U.S. Food and Drug … has approved the first treatment for progeria , a rare and fatal pediatric disease, characterized by dramatic, … also known as Hutchinson-Gilford progeria syndrome, is a rare, multisystemic disease that causes premature aging and …
News Release
The Physician-Scientist Development Program helps physicians develop research programs dedicated to the disorders they specialize in.
… aciduria type I - at the time, and still to date, a rare genetic disease with no known cure. Today, Dr. McGuire … physicians develop research programs dedicated to the disorders they specialize in. The program trains fellows to … Center to carefully study a group of patients with rare diseases that are, in themselves, rare," he said. "We …
News Release
When Dr. Ellen Sidransky, 2019 winner of the Jay Van Andel Award, looks into a rare disease, she finds a window to take the lead in Parkinson's research.
… 2019 winner of the Jay Van Andel Award, looks into a rare disease, she finds a window to take the lead in … I saw that you had published some cases with the two disorders. Would you like me to send you a sample from this … recalls her saying. Because Gaucher disease is very rare, having a brain sample of an inflicted person was a real …