Search Results
Staff
Dr. Gordon-Lipkin is a researcher and child neurologist with expertise in neurodevelopmental disabilities in the Metabolism, Infection and Immunity (MINI) Section.
… Institute, respectively, where she acquired expertise in neurogenetic and neuroimmune disorders. In 2018, she joined … Her prior work spans multiple neuroinflammatory conditions including autoimmune encephalitis, acute flaccid …
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.
Clinical Research
A study where both genotypic (individual genetics) and phenotypic (individual disease characteristics) patient data would be analyzed using advanced data-analytics programs to derive meaningful associations for the development of prevention, management and treatment strategies.
… does a thorough examination of any and all of your health conditions. NIH Day 2: Bone marrow biopsy and/or skin … … Natural History Study of Hematologic and Premalignant Conditions Associated with RUNX1 Mutation … NIH RUNX1-FPD …
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 …
The Genomics Landscape
In the December 2024 issue of The Genomics Landscape, NHGRI Director Eric Green highlights the keynote speaker at the institute's annual symposium, Kate Rubins, a biologist and NASA astronaut who was the first person to sequence DNA in space.
… studies have found that in other neurodevelopmental conditions, such as autism spectrum disorder, certain regions … providing health care in space are related to the unique conditions of microgravity, many of the biggest hurdles are …
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.
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.