Search Results
Staff
Dr. Ferreira is a staff clinician in the Medical Genomics and Metabolic Genetics Branch and the head of the Skeletal Genomics Unit.
… syndrome, another rare constitutional disorder of bone development. In 2019, Dr. Ferreira received the Emmanuel … might allow new understanding of the mechanisms governing bone and cartilage physiology. … Rios JJ, Denton K, Russell … induces new skeletal phenotypes in mice. Journal of Bone and Mineral Research . 2021 April 27 (online ahead of …
News Release
On its 15th anniversary, National DNA Day and NHGRI shared its genomics expertise to explain the importance of genomics in our everyday lives.
… of ancient DNA materials from museum specimens, such as bone fragments, skin or pieces of tissue that stick to the … surprising discoveries was when we looked at museum wolf bone samples back in 2004 that were collected in India in the …
News Release
NHGRI researchers have generated the largest catalog of genetic variants associated with physical traits for domesticated dog breeds.
… May 9, 2019 Many dog species are predisposed to developing bone-related disorders such as osteoporosis and osteosarcoma. … binds to. Mutations in the gene are known to affect bone mineral density and increase the risk of bone-related conditions.  Researchers have yet to detect the …
15 Ways Genomics Influences Our World
Genomics is illuminating human and family origins at a level not previously possible.
Clinical Research
FAQs for participants in the Autoinflammatory Diseases Study.
… parents of affected children Leukapheresis (rare) Research bone marrow aspiration and biopsy (rare; age 12 or older)  What … samples; however, we may use samples from saliva, skin or bone marrow in some cases.  What results will I get from …
Profile
An interview with Meru Sadhu, an Earl Stadtman Investigator and head of the systems biology and genome engineering section within the NHGRI Intramural Research Program, where he talks about his research and why yeast have a special place in his heart.
For Patients and Families
Neglected diseases are conditions that inflict severe health burdens on the world's poorest people.
… is a bacterial infection that affects mainly the skin, bone and cartilage. While rarely fatal, yaws can lead to …
Genetic Disorders
Charcot-Marie-Tooth disease is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles and loss of sensation.
… Other symptoms of the disorder may include foot-bone abnormalities such as high arches and hammer toes, …
Staff
Dr. Paul Meltzer is an adjunct investigator in NHGRI's Cancer Genetics and Comparative Genomics Branch.
… in adult and pediatric patients, particularly those with bone and soft tissue sarcomas. Dr. Meltzer's long-term goal …
Fact Sheets
A transcriptome is a collection of all the gene readouts present in a cell.
… if an unknown gene is expressed in fat tissue but not in bone or muscle tissue, the unknown gene may be involved in …