Search Results
Genetic Disorders
Achondroplasia is a disorder of bone growth and the most common form of disproportionate short stature.
… short fingers, a large head (macrocephaly) and specific facial features with a prominent forehead (frontal bossing) …
News Release
Three summer interns advanced biomedical research as part of the NIH Summer Internship Program in Biomedical Sciences.
… be used in countries that don't have access to genetic and facial screenings and quickly provide therapies to children …
MINC
Now that you’ve begun, you need to consider how to make it last. Consider sustainability and even expansion of your efforts.
… Leadership voices ongoing support, expectation, and recognition of competency achievement. … Factors that …
News Release
NHGRI researcher Dr. Julie Segre has been elected to the National Academy of Medicine, one of the highest honors in the fields of health and medicine.
… healthcare. NHGRI congratulates Dr. Segre on this esteemed recognition,” said Eric Green, M.D., Ph.D., NHGRI Director. …
News Release
NHGRI researchers identified 59 genes or gene regions linked to canine athletics.
… with physical attributes such as their trademark facial hair. The researchers published their findings online …
Genetic Disorders
Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other body systems.
… A person with myotonic dystrophy may have a characteristic facial appearance of wasting and weakness of the jaw and neck …
Genetic Disorders
Down syndrome is a chromosomal condition related to chromosome 21.
… learning difficulties, mental disability, a characteristic facial appearance, and poor muscle tone (hypotonia) in …
Profile
After 50 years of federal service, Dr. Graham reflects on her contributions to the scientific community and the future of the genomics workforce.
… diversity, equity, inclusion and accessibility (DEIA). In recognition of her important work in this area, Dr. Graham …
Fact Sheets
Chromosome abnormalities can either be numerical or structural and usually occur when there is an error in cell division.
… mental disability, learning difficulties, a characteristic facial appearance and poor muscle tone (hypotonia) in …
News Release
The National Human Genome Research Institute (NHGRI) has selected Valentina Di Francesco as the Institute’s first chief data science strategist and director of its new Office of Genomic Data Science. In this role, she will provide leadership, strategic guidance and coordination for NHGRI activities, programs and policies in genomic data science. NHGRI is part of the National Institutes of Health (NIH).