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The Division of Intramural Research conducts a broad program of laboratory and clinical research.
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Study finds regions of the human genome in people of African ancestry associated with BMI

Woman on a scale A large study by a consortium that includes researchers from the National Human Genome Research Institute's Center for Research on Genomics and Global Health has identified genome regions associated with body-mass index (BMI) among people with African ancestry. The study appears in the April 12, 2013 advance online issue of Nature Genetics. (more)

Study suggests the gene variants that cause rare disorder are a risk factor for common form of dementia

Lewy bodyAccording to a recent study by an international research team that included the
National Human Genome Research Institute (NHGRI), people who carry gene alterations that cause Gaucher disease - a rare disease in which a fatty substance (lipid) accumulates in cells and certain organs - also have an elevated risk for Parkinson's disease and dementia with Lewy bodies (DLB), one of the most common types of progressive dementia. (more)

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Highlights

Standard poodles help researchers find a gene variant associated with one type of bone cancer

A white and a black poodle side by sideIn a study published in the March 28, 2013 issue of PLoS Genetics, a team of researchers led by Elaine Ostrander, Ph.D., NIH Distinguished Investigator and chief of NHGRI's Cancer Genetics Branch, studied dogs with a type of skin cancer called squamous cell carcinoma of the digit (SCCD) to learn the genetic cause of the disease. Standard poodles are among those at highest risk and the condition only affects standard poodles with dark coats. The researchers performed a genome-wide association study that compared 31 affected dogs with 34 unaffected black dogs. Through genomic analysis, the researchers found an association for this cancer with a type of gene mutation called a copy number variant. The study demonstrated a role for this variant near the KITLG gene in increasing risk for this cancer. It also demonstrated the usefulness of dog breed studies for understanding the genetic causes of complex disease, which may affect dogs and humans. Read the study: A Copy Number Variant at the KITLG Locus Likely Confers Risk for Canine Squamous Cell Carcinoma of the Digit

Last Updated: April 18, 2013