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Staff
Dr. Susan Persky is an associate investigator in the Social and Behavioral Research Branch at the National Human Genome Research Institute.
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… Dr. Susan Persky is an associate investigator and head of the Health Communication and Behavior Unit. She … knowledge about common, complex health conditions like obesity and diabetes in interactions between healthcare … S, Sanderson SC, Koehly LM. Online discussions about genetics and body weight: Implications for health behavior …
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 also have teeth problems (dentinogenesis imperfecta), and hearing loss when they are adults. People who have OI may also have muscle weakness, loose joints (joint laxity) and skeletal malformations. OI occurs in approximately 1 in … COL1A2 . Additional Resources on Osteogenesis Imperfecta Genetics Home Reference: Osteogenesis imperfecta Medline …
Genetic Disorders
Neurofibromatosis is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin.
… disorder that can affect the brain, spinal cord, nerves and skin. … Neurofibromatosis (NF) is a genetic neurological … disorder that can affect the brain, spinal cord, nerves and skin. Tumors, or neurofibromas, grow along the body's … Neurofibromatosis Network Medline Plus: Neurofibromatosis Genetics Home Reference: Neurofibromatosis Type 1 Genetics …
Genetic Disorders
Cystic fibrosis is a genetic disease that causes the body to produce thick, sticky mucus that clogs the lungs, leads to infection, and blocks the pancreas.
… sticky mucus that clogs the lungs, leads to infection, and blocks the pancreas, which stops digestive enzymes from … acts as a channel that allows cells to release chloride and other ions. But in people with CF, this protein is … Additional Resources for Cystic Fibrosis Information Genetics Home Reference Cystic Fibrosis Foundation Cystic …
Staff
Dr. Adebowale Adeyemo is an associate investigator and deputy director of NHGRI's Center for Research on Genomics and Global Health.
… of Ibadan in Nigeria. After a residency in pediatrics and genetics, he became a faculty member of the College of … author of the papers describing: the first genome scan for obesity in an African population, the first genome-wide …
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
… too much of the mineral copper. Many foods contain copper, and it is important for people to have a small amount of … Wilson disease, copper builds up in the liver, brain, eyes and other organs. Over time, the extra copper can lead to … disease, hepatolenticular degeneration syndrome, WD and Wilson's disease. … Wilson disease may affect several of …
Research at NHGRI
The NHGRI Cancer Genetics and Comparative Genomics Branch identifies and study genes that contribute to cancer susceptibility and progression.
… The Cancer Genetics and Comparative Genomics Branch seeks to identify and study genes that contribute to cancer susceptibility and …
Event
On November 16-17, 2023, the National Human Genome Institute will co-sponsor a workshop, Advances in the Genetic Architecture of Complex Human Traits, to take a historically grounded and forward-looking approach towards dissecting the genetic architecture of complex traits in humans.
… Session 1 – Cells, Tissues, and Organs As we continue to catalog cell types and cell states with ever increasing resolution and … vs behavioral traits)?  If there is a tight coupling of genetics and environment and potentially GxE effects, how …
The Genomics Landscape
In the September 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details the American Society of Human Genetics' (ASHG) new strategic plan, which aims to get people everywhere to realize the benefits of genomics and genetics research.
… Mullis, inventor of the polymerase chain reaction (PCR) and Nobel Prize winner, passed away last month. The … medical practice in a fashion that prevents disease and improves health. Tune into GenomeTV starting on September … the field of genomics.  …  The American Society of Human Genetics (ASHG) , a professional organization of over 8,000 …
Event
NHGRI is hosting a workshop - Identifying Research Priorities to Accelerate genetic Diagnosis - on April 16-17, 2024.
… Day 1 - Tuesday, April 16th, 2024 8:30 AM – Arrival and registration 9:00 AM – Welcome and Overview of Workshop Goals Lisa Chadwick, NHGRI 9:10 AM – … of Pennsylvania 12:00 PM - Lunch 1:00 PM – Session 3: Genetics, it’s Complicated Moderator: Jennifer Troyer, NHGRI …