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Staff
Dr. Grisel Lopez is a Board-certified neurologist and researcher in the Medical Genetics Branch of NHGRI.
Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
Media Advisory
Researchers from the NIH-funded Human Pangenome Reference Consortium will answer questions about a set of papers to be published in the Nature Portfolio journals and Genome Research. The papers and the briefing are under embargo until May 10, 2023, at 11 a.m. E.T.
Profile
NHGRI researchers recently published a study using virtual reality simulations to investigate how clinicians might use a type of genomic risk information called polygenic risk scores in medical care.
… genomic data in the clinic for diagnosing rare health conditions. But for common health conditions, information such as polygenic risk scores are not … with their polygenic risk scores for several common health conditions. With at-home genomic testing becoming …
News Release
NHGRI researchers collaborated with physicians and medical geneticists worldwide to create the Atlas of Human Malformation Syndromes in Diverse Populations.
News Release
The Undiagnosed Diseases Network has opened an online patient application portal called the UDN Gateway.
… its core mission: to diagnose patients who suffer from conditions that even skilled physicians have been unable to … (UDP), which is now part of the UDN. "Although undiagnosed conditions present an array of challenges for clinicians, …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
Event
NHGRI is hosting a workshop - Identifying Research Priorities to Accelerate genetic Diagnosis - on April 16-17, 2024.
… our understanding of the genetic cause of Mendelian conditions and to increase the solve rate for rare disease. …
News Release
NIH researchers have developed a breath test that measures how well patients with methylmalonic acidemia (MMA) respond to receiving liver or combined liver and kidney transplantation.
About Genomics
A introduction to basic concepts in genomics to help you understand your genome, how it works, and how it impacts your health.