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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 …
Staff
Dr. Neil Hanchard is a clinical investigator within the Center for Precision Health Research (CPHR) and head of the Childhood Complex Disease Genomics Section within the CPHR.
… form (NESAM or marasmus) which is characterized by chronic wasting, and the edematous form (ESAM, kwashiorkor, …
Event
On November 5-9, 2024, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.  The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics. 
… Williams SGLT2 Inhibitors Attenuate Risk of APOL1-mediated Chronic Kidney Disease 5154W Evan Ying Validation and …
News Release
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 …
News Release
Ten investigators will receive exome sequencing data as part of their clinical research projects at the NIH Clinical Center.
… that lead to Sjögren's syndrome. Sjögren's syndrome is a chronic autoimmune disease in which the body's white blood …
Fact Sheet
Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.
… healthcare team about potential side effects, including pain crisis. … Step 6: Manufacturing and processing Your …
Clinical Research
This study explores how microbes, such as bacteria and fungi, contribute to a very common skin condition called Atopic Dermatitis, known as eczema.
… sampling through skin swabs or scrapes hurt? There is no pain. Swabs involve rubbing the skin with a sponge "Q-tip." …
Genetic Disorders
Achondroplasia is a disorder of bone growth and the most common form of disproportionate short stature.
… legs. The problems with the lower back can cause back pain leading to difficulty with walking. … Achondroplasia is …
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… early treatment along with the potential for reducing pain and suffering experienced by these children and their …
News Release
NIH is establishing the Multi-Omics for Health and Disease Consortium, with approximately $11 million awarded in the consortium’s first year of funding. The new consortium aims to advance the generation and analysis of “multi-omic” data for human health research.
… as fatty liver diseases, hepatocellular carcinoma, asthma, chronic kidney disease and preeclampsia, among others. The …