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Staff
Dr. Elisabeth F. Heuston is a molecular biology and bioinformatics Staff Scientist with the Center for Research on Genomics and Global Health (CRGGH).
… the pathophysiology of cardiometabolic diseases like type 2 diabetes, hypertension, and dyslipidemia in minority …
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 …
File
… Collaborators Griffin Rodgers, M.D. National Institutes of Diabetes and Digestive and Kidney Diseases, NIH Project: … Whole Exome Sequencing of Multiplex Families for T ype 2 Diabetes; Whole Genome Methylation Analysis in African … Research Institute, NIH Projects: Genetic Studies of Type 2 Diabetes; 2q Deletion Syndrome; Genetics of Childhood …
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 …