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News Release
NIH will support research that incorporates DNA sequence information into electronic medical records.
… of genetic testing, characterizing the genetics of pain and exploring what genetic test results adolescents want … to study two disorders: familial hypercholesterolemia and chronic rhinosinusitis. Investigators will examine and test … another. They will study the impact of the environment on chronic rhinosinusitis. Columbia University, New York City, …
The Genomics Landscape
In the September 2018 edition of The Genomics landscape, NHGRI Director Eric Green highlights five new educational videos that use poetry and dance.
… Symptoms Researchers Elucidate Role of Stress Gene in Chronic Pain Notable Accomplishments in Genomic Medicine Upcoming …
Clinical Research
GENE-FORECAST® is developing a community cohort and resource for defining the significance of ancestry-related genomic variation in African-Americans.
… subsets of the cohort based on their genotype (e.g. APOL1 chronic kidney disease risk alleles) for a call-back visit … are rare or minor, including: Physical risks, such as pain or bruising as a result of the blood draw. Reaction to …
Research at NHGRI
An international investigation into the genetics of severe acute malnutrition in children.
… nutritional stress, including overnutrition, cancer, and chronic illness. … KwashNet meets in-person annually to …
News Release
Doctors and researchers reunite with patient who received gene therapy for GM1 gangliosidosis.
… therapy offers a promising option for patients. With the chronic nature of many of these disorders, researchers hope … and she’s getting stronger each day. She’s no longer in pain.” Lei smiles as she counts the ways Jojo’s personality …
Genetic Disorders
Neurofibromatosis is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin.
… Tinnitus, dizziness, facial numbness, balance problems and chronic headaches may also surface during the teenage years. … cranial nerves, and does not cause hearing loss. It causes pain primarily, and in any part of the body. Though …
Genetic Disorders
Duchenne muscular dystrophy is a rapidly progressive form of muscular dystrophy caused by a mutation in the DMD gene.
… occurs in connective tissue. Occasionally, there can be pain in the calves. Symptoms usually appear in boys aged 1 to … of multiple reasons including acute muscle injury, or chronic condition such as Duchenne muscular dystrophy. … …
News Release
Genomic variants that increase risk of kidney disease are found in nearly one-third of West Africans
A study from researchers at National Institutes of Health (NIH) and their collaborators revealed a significant genetic risk factor for kidney disease in people of West African ancestry.
… and variants of the gene are linked to increased risk of chronic kidney disease. The study is published in the New … genomic variants in APOL1 increase the risk of developing chronic kidney disease among African Americans. However, not … . Studying how these genomic variants contribute to chronic kidney disease in West Africans and people with West …
The Genomics Landscape
In the May 2019 edition of The Genomics Landscape, NHGRI Director Eric Green recaps activities from National DNA Day 2019.
… ADOPT-PGx) will test if patients with acute post-surgical pain, chronic pain, and/or depression have better clinical outcomes when …
News Release
Researchers have now identified three health conditions for which people with SCT are at increased risk.
… Review They include pulmonary embolism , proteinuria and chronic kidney disease . Findings from this first … of increased risk for pulmonary embolism, proteinuria and chronic kidney disease. They also found a moderate level of …