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The Genomics Landscape
In the July 7, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., emphasizes the importance of the Technology Transfer Office and its mission to manage all the legal negotiations that help to protect federally funded research from being unduly exploited, while also giving that research avenues to reach patients through the commercialization of promising advances.
… data were used in studies covering a variety of topics: chronic complex diseases, type 2 diabetes, epigenomics, …
Staff
Dr. Laura Koehly is the chief of and senior investigator in the Social and Behavioral Research Branch at the National Human Genome Research Institute.​
… aims to understand factors associated with resilience to chronic stress in families engaged in high caregiver burden due to chronic illness. This work aims to understand caregiving from … course by studying caregiving for children affected by chronic health conditions, such as inborn errors of …
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.
… 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 …
Staff
Dr. Suzanne Hart was the deputy director of the Medical Genetics and Genomic Medicine Fellowship Training Program until she retired in late 2023.
… REN mutations as the cause of one form of anemia and chronic kidney failure. Understanding the genetic causes of … associated with early-onset hyperuricemia, anemia, and chronic kidney failure. Am J Hum Genet , 85:204-13, 2009. [ …
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
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 …