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News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… interventions and provide better medical care. "Human malformation syndromes appear different in different parts of … syndrome. ​ … DiGeorge syndrome, facial recognition, human malformation syndromes, Down syndrome, Marius George …
Staff
Dr. Benjamin Solomon is the Clinical Director in the Office of the Clinical Director at the National Human Genome Research Institute.
… on understanding the causes and biology of a number of congenital disorders as well as applying emerging … Solomon, Ben Solomon, pediatrics, clinical genetics, congenital disorders, rare diseases … Dr. Benjamin Solomon is …
Genetic Disorders
Marfan syndrome an inherited disorder of connective tissue occurring once in every 10,000 to 20,000 individuals.
News Release
Three summer interns advanced biomedical research as part of the NIH Summer Internship Program in Biomedical Sciences.
… to assist scientists with building out the Atlas of Human Malformation Syndromes in Diverse Populations , an online … their summer working on building out The Atlas of Human Malformation Syndromes in Diverse Populations as part of the … Fragile X, Cornelia de Lange syndrome, Atlas of Human Malformation Syndromes in Diverse Populations, Max Muenke, …
Genetic Disorders
Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break easily, often from little or no apparent trauma.
The Genomics Landscape
In the January 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly developed polygenic risk scores webpage, which provides graphical and textual information about polygenic risk scores, describes polygenic traits, introduces how polygenic risk scores can be calculated, and explains how such scores can be interpreted.
… genes reported to be associated with long QT syndrome, a congenital heart condition that predisposes patients to … Research Genomics experts dispute nine genes linked to congenital heart condition Notable accomplishments in genomic … program … ClinGen expert panel curates genes linked to congenital heart condition … NHGRI seeks grant applications …
News Release
NHGRI researchers and their collaborators, have successfully used facial analysis software to diagnose Noonan syndrome in Africans, Asians and Latin Americans.
… researchers will add Noonan syndrome to the Atlas of Human Malformation Syndromes in Diverse Populations , which they … analysis software, facial recognition, Atlas of Human Malformation Syndromes in Diverse Populations, Max Muenke …
Staff
Dr. Leslie Biesecker is a clinical and molecular geneticist in and the chief of NHGRI's Center for Precision Health Research.
… approach to heritable disorders, focusing on pleiotropic malformation syndromes and mosaic overgrowth disorders. Over … with these disorders exhibit various combinations of congenital malformations, overgrowth, birthmarks, … agents to develop approaches to treatment. In contrast to congenital malformations, mosaic overgrowth disorders have a …
Staff
Dr. Adebowale Adeyemo is an associate investigator and deputy director of NHGRI's Center for Research on Genomics and Global Health.
… recently, his research has grown to include genetics of congenital heart defects. This collaborative study is … the collection of a rich clinical epidemiology dataset of congenital heart defects in an African population … Adeyemo … M, Adeyemo A, Kruszka P. An electronic atlas of human malformation syndromes in diverse populations. Genet Med, …
The Genomics Landscape
In the September 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, recaps the April 2023 virtual reunion of the leaders of the five genome-sequencing centers (G5), where they tell the untold story on how they ushered the Human Genome Project across the finish line in 2003.
… rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis Tenney et al. Nature Genetics . 2023 Jun;55, 1149–1163 PMC10335940  Hereditary congenital facial paresis type 1 (HCFP1) is rare disorder in …