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Staff
Dr. Leslie Biesecker is a clinical and molecular geneticist in and the chief of NHGRI's Center for Precision Health Research.
… is a clinical and molecular geneticist and is the chief of the Center for Precision Health Research at the National … approach to heritable disorders, focusing on pleiotropic malformation syndromes and mosaic overgrowth disorders. Over the past 20 …
Genetic Disorders
Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break easily, often from little or no apparent trauma.
… OI type II) to average. There are four well-known types of OI. These types are distinguished mostly by fracture … and by characteristic features. Three additional types of OI (type V, VI and VII) have also been identified. The vast majority (90 percent) of OI is caused by a single dominant mutation in one of two …
Staff
Dr. Carolyn M. Hutter is the director of the Division of Genome Sciences at the National Human Genome Research Institute.​
… Dr. Carolyn Hutter has been the director for the Division of Genome Sciences in the National Human Genome Research … serving as the NHGRI team lead for The Cancer Genome Atlas (TCGA) . Prior to NIH, she was a senior staff scientist … Nature . 2020 Oct; 586(7831): 683–692.  The Cancer Genome Atlas: Creating Lasting Value beyond Its Data . Hutter CM and …
Educational Resources
Monosomy refers to the condition in which only one chromosome from a pair is present in cells rather than the two copies usually found in diploid cells.
… Monosomy … Monosomy is the state of having a single copy of a chromosome pair instead of the usual two copies found in diploid cells. … Monosomy, …
Staff
Dr. Heidi Sofia served as a program director in the Division of Genomic Medicine at the National Human Genome Research Institute from 2010-2023.
… Dr. Heidi Sofia joined NHGRI in 2010 as part of the team responsible for The Cancer Genome Atlas (TCGA) initiative in cancer genomics, jointly managed … G, Wheeler D, Ding L, MC3 Working Group, Cancer Genome Atlas Research Network. Scalable open science approach for …
Genetic Disorders
Dercum disease is a rare condition that is characterized by multiple, painful fatty tumors that occur chiefly in post-menopausal, obese women of middle age.
… tumors that occur chiefly in post-menopausal, obese women of middle age. … Dercum disease - also known as Adiposis … tumors) that occur chiefly in post-menopausal, obese women of middle age. However, although it is 20 times more common in women, 16 percent of the reported cases are males and it can also occur in …
Media Availability
TCGA researchers have found that chromophobe renal cell carcinoma stems partly from gene alterations in the mitochondria, the cell's energy supplier.
… … Media Availability Researchers in The Cancer Genome Atlas (TCGA) Network have made a number of new findings about the biology and development of a rare … chromophobe renal cell carcinoma, ChRCC, The Cancer Genome Atlas, TCGA, metabolic changes in cancer … TCGA researchers …
Educational Resources
Autism is a developmental brain disorder characterized by impaired social interactions, communication problems, and repetitive behaviors.
… challenges. Symptoms usually appear before the age of three. The exact cause of autism is not entirely known, although genetics clearly plays an important role. Autism is one of a group of related developmental conditions sometimes …
15 Ways Genomics Influences Our World
Genomics is transforming how we study, diagnose and treat cancer.
… sequencing technology are leading to a new understanding of cancer and new ways for diagnosing and treating many types … Large projects around the world, like The Cancer Genome Atlas  in the United States and the Catalogue of Somatic … cancer. … Cancer Genomics, Mutations, The Cancer Genome Atlas, Acute Lymphoblastic Leukemia, Blood Tests, Circulating …
News Release
NHGRI appointed Carolyn Hutter, Ph.D., director of the Division of Genome Sciences, which researches human genome function in health and disease.
… (NHGRI) has appointed Carolyn Hutter, Ph.D., the director of the Division of Genome Sciences - the NHGRI division that … programs. Most recently, she co-managed The Cancer Genome Atlas (TCGA) - a collaboration between NHGRI and the National … Sciences, large-scale genomics research, The Cancer Genome Atlas, TCGA, Jeff Schloss, Clinical Sequencing Exploratory …