Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Events
Sections
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.
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 …