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Staff
Dr. Suzanne Hart was the deputy director of the Medical Genetics and Genomic Medicine Fellowship Training Program until she retired in late 2023.
… established a multidisciplinary clinic for Prader-Willi syndrome. She then joined the faculty at the University of … as an isolated inherited condition, as part of a genetic syndrome, or as a side effect of certain medications. Dr. … forms of gum overgrowth, such as Zimmerman-Laband syndrome and juvenile hyaline fibromatosis, as well as gum …
Staff
Diana Bianchi is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
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… commitment to developing prenatal treatments for Down syndrome. They hypothesize that giving safe and efficacious … chromosomes, and fetuses with trisomies 21 or 18, Turner syndrome (45, X), Fragile X, twin to twin transfusion syndrome, and myelomeningocele. We have also explored the …
News Release
Laura Koehly, Ph.D., has been named chief of NHGRI's Social and Behavioral Research Branch.
… on the psychosocial impact of genetic testing for Lynch Syndrome-associated cancer . The genes associated with Lynch syndrome had just been discovered. "Jill was working on a … as they say, is history." People with identified Lynch syndrome mutations were waiting a long time before informing …
Genetic Disorders
Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30.
… … Crohn's Disease, Inflammatory Disorder, Irritable Bowel Syndrome, Abdominal Pain, Bowel Disorder … Crohn's disease is …
Staff
Dr. Michael Erdos is an Associate Investigator in the Molecular Genetics Section of the Center for Precision Health Research.
… rare premature-aging disease, Hutchinson Gilford Progeria Syndrome (HGPS). Two of those treatment strategies are in the … for therapeutic development. Hutchinson-Gilford Progeria Syndrome In the ultra-rare premature aging disorder HGPS, Dr. … Adenine Base Editing Rescues Hutchinson-Gilford Progeria Syndrome . Nature . 2021 Jan;589(7843):608-614. doi: …
Educational Resources
The Y chromosome is one of the two sex chromosomes that are involved in sex determination.
… Linked, X Chromosome, Y Chromosome, Phenotype, Fragile X Syndrome, Trait … The Y chromosome is one of the two sex …
Educational Resources
X-linked, as related to genetics, refers to characteristics or traits that are influenced by genes on the X chromosome.
… Linked, X Chromosome, Y Chromosome, Phenotype, Fragile X Syndrome, Trait … X-linked, as related to genetics, refers to …
Staff
Dr. Francis Collins is a senior investigator in Center for Precision Health Research.
… Huntington's disease, a familial endocrine cancer syndrome, and most recently, genes for type 2 diabetes, and the gene that causes Hutchinson-Gilford progeria syndrome, a rare condition that causes premature aging. Dr. … of Medical Genetics, 2nd ed. Baltimore: Lippincott, Williams & Wilkins, 1998. … Biography … Scientific Summary … …
News Release
ASHG members selected Leslie G. Biesecker, M.D., a clinical and molecular geneticist and investigator with NHGRI, as their new president-elect for 2019.
… of development and overgrowth such as Pallister-Hall syndrome, McKusick-Kaufman syndrome and Proteus syndrome. He initiated ClinSeq® , a large-scale medical …
Educational Resources
A retrovirus is a virus that uses RNA as its genetic material.
… RNA as its genetic material. … Acquired Immunodeficiency Syndrome (AIDS), Cancer, Cell, Deoxyribonucleic Acid (DNA), …