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News Release
NHGRI researchers seek help from people with Sickle Cell Disease to find the factors - environmental, social and genetic - that impact the severity of symptoms.
… with sickle cell disease (SCD) can experience excruciating pain all over their bodies, kidney problems, higher risk of stroke and in rare cases, chronic leg ulcers. These and other symptoms result when …
Graduate Medical Education
An opportunity for a 4-to-8-week elective in the National Human Genome Research Institute (NHGRI) at the NIH Clinical Center in Bethesda, MD.
… … Neurosurgery Otolaryngology—Head and Neck Surgery Pain and Palliative Care Pathology Pediatric Hospitalist … Internal Medicine Consult Service, Medical Oncology, Pain and Palliative Care, Radiation Oncology, Surgical …
News Release
NHGRI researchers identified 59 genes or gene regions linked to canine athletics.
… with roles in endurance, heart function, blood flow and pain perception. What terriers lacked in sporty genes, they … sport hunting dogs enhances muscle endurance by reducing pain. In a previous study in mice, researchers discovered that the ASIC3 gene is linked to muscle pain after exercise. In another experiment involving racing …
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… regularly. High blood pressure is treated with medication. Pain in the area of the kidneys is treated as needed with pain medications, and for chronic pain, with antidepressants. When standard methods to …
Research Funding
The IGNITE PTN supports a network of multi-site clinical groups involving diverse settings and populations to conduct two pragmatic clinical trials of genomic medicine interventions.
… therapy selection ("usual care") for acute post-surgical pain, chronic pain, and depression via changes in patient-reported outcomes …
Genetic Disorders
Alpha-1 antitrypsin deficiency is an inherited condition that causes low levels of, or no, alpha-1 antitrypsin in the blood.
… damage to the lungs. Other common diagnoses include COPD (chronic obstructive pulmonary disease), asthma, chronic bronchitis and bronchiectasis - a chronic inflammatory or degenerative condition of one or more …
News Release
Daniel Kastner, M.D., Ph.D., Scientific Director for the Intramural Research Program at the National Human Genome Research Institute (NHGRI) recognized for his pioneering work on the genomics of autoinflammatory diseases.
… recurrent bouts of fever and periodically show symptoms of pain in regions including joints, muscles, and abdomen. NOMID … joints. Affected individuals can eventually suffer from chronic meningitis. Targeted therapies are now available for … immersed in it. There will always be setbacks and pain, but that is when the excitement you have for what you …
News Release
Over the last 20 years, three families have been unknowingly linked to one another by an unknown illness. Researchers at the National Human Genome Research Institute (NHGRI) and other organizations have now identified the cause of the illness, a new disease called CRIA syndrome. The results of their work were published on Dec. 11 in the journal Nature.
… including fevers, swollen lymph nodes, severe abdominal pain, gastrointestinal problems, headaches and, in some … age, as well as other symptoms that can lead to lifelong pain and disability. When confronted by patients’ symptoms, … which are routinely used to treat autoinflammatory and chronic diseases such as rheumatoid arthritis, had little …
News Release
NHGRI researchers have discovered clues to the possible cause of recurring, non-contagious fevers and sores that affect only children. Several genes have been implicated with the syndrome, known as PFAPA syndrome (Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis), which could lead to new treatments.
… possible by the realization of commonalities with other chronic inflammatory conditions that also involved sores on …
Staff
Dr. Merideth is a staff clinician in the Office of the Clinical Director and program director for both the NHGRI Medical Biochemical Genetics Fellowship and
NHGRI Clinical Biochemical Genetics Fellowship.
… and sensitisation in women with endometriosis-associated chronic pelvic pain: A cross-sectional study . Eur J Pain . 2021 … MA , Childs RW, Stratton P. Novel management of vaginal chronic graft-versus-host disease causing haematometra and …