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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.
… white, in all cases talking about their fatigue and knee pain. Some of these patients provided a report with their …
Genetic Disorders
The porphyrias are a group of different diseases, each caused by a specific abnormality in the heme production process.
… nervous system. These symptoms include chest and abdominal pain, emotional and mental disorders, seizures and muscle … the nervous system. Symptoms of acute porphyria include pain in the chest, abdomen, limbs, or back; muscle numbness, …
Research Funding
The Multi-Omics for Health and Disease Consortium aims to advance the application of multi-omic technologies to study health and disease in ancestrally diverse populations.
… Zachariah, Ali Gharavi Columbia University Multi-Omics for Chronic Kidney Disease Disease Study Site Louise Laurent*, …
News Release
A team from the NIH has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease.
… lung disease, and bone abnormalities such as bone pain, fractures and arthritis. The less common Types 2 and 3 …
The Genomics Landscape
In the March 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details ClinGen, the first FDA-recognized Public Human Genetic Variant Database.
… Linked to Elevated Breast Cancer Risk Cancer Drug Reduces Pain, Improves Symptoms in People with Proteus Syndrome More …
News Release
NHGRI researchers have released new educational materials to help the sickle cell disease community learn about gene therapies for the disease.
… abnormal hemoglobin, which affects blood flow and causes pain, fatigue and other symptoms. Patients can either take …
News Release
The skin microbiota plays an intricate role in the human immune system, directing many immune functions and defending against bacterial pathogens.
… human skin microbiota may contribute to the increase in chronic inflammatory and autoimmune disorders seen in …
News Release
Ten investigators will receive exome sequencing data as part of their clinical research projects at the NIH Clinical Center.
… that lead to Sjögren's syndrome. Sjögren's syndrome is a chronic autoimmune disease in which the body's white blood …
News Release
Researchers build a statistical model using family health history to improve disease risk assessment
Researchers at the National Human Genome Research Institute (NHGRI) have developed a new statistical model that can predict the risk for developing diseases by combining information about family member health and lifestyle factors from family members.
… the condition, making it one of the most common and costly chronic diseases to treat. T2D is known as a complex disease …
The Genomics Landscape
In the May 2024 issue of The Genomics Landscape, NHGRI Director Eric Green talks about the NHGRI Research Training and Career Development Annual Meeting, which provides a venue to foster support and a sense of community for NHGRI-funded trainees, equipping them with tools for success and more clarity about career possibilities.