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Dr. Manoli is a pediatrician, clinical and biochemical geneticist in the Organic Acid Research Section of the Metabolic Medicine Branch at NHGRI.
… research on the MMA natural history protocol led to the recognition of errors in the design and implementation of … collaborative grant on Moebius syndrome and related facial weakness disorders, with investigators at Icahn School … as the cause for autosomal dominant hereditary congenital facial paresis, type 1 (HCFP1). … Tenney AP, Di Gioia SA, …
Event
Annual scientific lecture honoring NHGRI's founding scientific director, Jeffrey M. Trent, Ph.D.
… programs in the world devoted to genetics and genomics. In recognition of his significant contributions to the research … programs in the world devoted to genetics and genomics. In recognition of his significant contributions to the research …
News Release
After several decades as a major genomics leader, Eric Green is elected to the National Academy of Medicine, one of the highest honors in medical science.
… of the National Institutes of Health, as a new member in recognition of his distinguished career using genomics to … election to the National Academy of Medicine is a fitting recognition of his sustained leadership." In 1994, Dr. … decades of contributions in genomics. Their collective recognition is both gratifying and humbling." … About NHGRI …
The Genomics Landscape
In the January 5, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., talks about how artificial intelligence and machine learning are becoming omnipresent throughout NHGRI and in genomics.
… learning (ML) are everywhere. From self-driving cars to facial recognition to photograph-refinement software—AI and ML are …
Educational Resources
Holoprosencephaly is a developmental disorder that results when the forebrain of the embryo fails to divide and form the right and left halves of the brain.
… a single-lobed brain structure and severe skull and facial abnormalities. Often the deformities cause babies to … babies are born with near-normal brain development and facial abnormalities involving cleft lip or cleft palate. … …
Genetic Disorders
Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene.
… moderate intellectual disability. They have a particular facial appearance, characterized by a large head size, a long … An experienced geneticist may note subtle differences in facial characteristics. Intellectual disability is the …
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
… Analysis of Hereditary Non-Syndromic Oral Clefts Oral-Facial-Digital Syndrome Oral-Facial-Digital Syndromes (OFDS) Research Study Oral-Facial-Digital Syndromes Clinical and Molecular …
Event
On April 25, 2024, National DNA Day, the National Institutes of Health (NIH) will welcome a new statue, “The Ladder,” celebrating DNA and children.
… the NIH in Bethesda, Maryland. Ms. Scherl gained national recognition for creating her first social art project …
News
NHGRI recognizes leaders in diversity, equity, inclusion and accessibility in the genomics workforce
NHGRI is honoring three individuals for their achievements in enhancing diversity, equity, inclusion and accessibility (DEIA) in the genomics workforce. These individuals are the first recipients of NHGRI’s Outstanding Award for Enhancing DEIA in the Genomics Workforce, which was launched this year and will be awarded annually.
… for the genomics community,” said Schools. “I hope this recognition encourages others to follow their example of … accessibility important components of science.” This new recognition is the latest in NHGRI’s longstanding work to …
Genetic Disorders
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate.
… the way the kidneys are formed or work; a characteristic facial appearance; learning problems; and speech and feeding … differences in the kidney (35 percent), characteristic facial appearance (numbers vary depending on the individual's …