Search Results
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… of variants of the same gene in patients with a similar type of blood vessel inflammation. … ability to produce of an enzyme called adenosine deaminase 2 (ADA2). Without it, abnormalities and inflammation in blood … National Cancer Institute; and the National Institute of Diabetes and Digestive and Kidney Diseases, as well as the …
Fact Sheet
Viruses are bundles of genetic material wrapped in a protein coat that can infect living things.
… Coronavirus disease 2019 (COVID-19) Viral agent: SARS-CoV-2 … white blood cells, called B cells, produces a particular type of protein called an antibody. Antibodies bind to … factors . People with existing health conditions, such as diabetes, cardiovascular disease or cancer, are more …
Research Funding
The Multi-Omics for Health and Disease Consortium aims to advance the application of multi-omic technologies to study health and disease in ancestrally diverse populations.
… Chicago Multi-Omics at the Intersections of Environment, Diabetes, and Kidney Disease: A Multi-Omics for Health and … include 1) persons from ancestrally diverse populations; 2) persons with and without specific diseases; 3) harmonized …
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.
… pressure in childhood without an obvious cause - affects 1-2% of all children, accounting for about 40% of all … at a locus on Chromosome 5. Blood Adv. 2018 Dec 26;2(24):3637-364; PMCID: PMC6306880 Mnika K, Mazandu GK, Jonas …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… sometimes with little warning. There is no cure for any type of MMA, but special diets, vitamin therapies and in some … To enroll in our study, a person must: Be between 2 and 70 years of age. Be able to travel to and be admitted … Have a diagnosis of mut, cblA, cblB, cblC, cblD, or cblF type MMA based on complementation status determination in …
Genetic Disorders
Hereditary hemochromatosis is a genetic disease that alters the body's ability to regulate iron absorption.
… to diseases such as cirrhosis of the liver, liver cancer, diabetes, heart disease and joint disease. The gene that … exhibit signs of the disease if there are triggers such as diabetes or alcoholism. … are numerous and similar to other common diseases such as diabetes, heart failure, arthritis, liver disease, impotence …
Research at NHGRI
An international investigation into the genetics of severe acute malnutrition in children.
… and childhood health priorities, such as anthropometry, diabetes, and obesity. Beyond the scope of understanding …
Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… one half of individuals who have WAGR syndrome develop a type of kidney cancer called Wilms' tumor. In the early … with WAGR syndrome may have a higher risk for a type of cancer called gonadoblastoma, a cancer of the cells …
The Genomics Landscape
In the November 2019 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the International Common Disease Alliance's scientific plenary and launch meeting in September, which included an international panel on opportunities emerging outside the U.S., North America, and Europe; discussions about polygenic risk scores; and an overview about data platforms, data sharing, and ethics.
… Current : Sept. 12, 2019 – Jan. 2, 2020 Turtle Bay Exploration Park Redding, California Next … may help Valium calm nerves Nicotine addiction linked to diabetes through a DNA-regulating gene in animal models One …
MINC
Use the resources to help you design an education program or policy for your setting.
… program or policy for your setting.  Resource Title Type Cost Action Plan Instruction Presentation Slides Free … Flyer Free Texas Health Presbyterian: Family History & Diabetes Flyer Free Texas Health Presbyterian: Genetic …