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Genetic Disorders
Hemophilia is a bleeding disorder that slows down the blood clotting process.
… or passing blood in the stool, stroke, and sudden severe pain in the joints or limbs. Painful bleeding into the soft …
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, …
Staff
Vence Bonham is the acting deputy director for NHGRI and an associate investigator in NHGRI's Social and Behavioral Research Branch. ​
… on PubMed Bonham V.L. Race and ethnicity disparities in pain treatment.  Journal of Law, Medicine and Ethics,  29: … Jr., Haywood C. Jr., Ivy E. Sickle cell disease related pain: crisis and conflict.  Journal of Pain , 7(7):453-458. 2006. [ PubMed ] Phillips EM, Odunlami …
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 …
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 …
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 …
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. [ …
Research Funding
The following are research areas of interest that have been identified by the participating NIH institutes and centers (ICs). Program Officer contact information is also included.
… to risk for OUD how do we use it clinically for acute pain and/or chronic pain? What are the potential misuses by clinicians of genetic …
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.