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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.
About Genomics
A introduction to basic concepts in genomics to help you understand your genome, how it works, and how it impacts your health.
File
… evaluation of patients with complex neuromuscular & neurogenetic conditions without a definite diagnosis. (University of Sri …
Profile
Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… easy to find patients. Sometimes, we might be dealing with conditions that have only been seen in one or two dozen …
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. …
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… Many human diseases have a genetic component. Some of these conditions are under investigation by researchers at or …