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Staff
Dr. Gordon-Lipkin is a researcher and child neurologist with expertise in neurodevelopmental disabilities in the Metabolism, Infection and Immunity (MINI) Section.
… research interests focus on the effects of infection and inflammation on brain development and harnessing this …
News Release
Doctors and researchers reunite with patient who received gene therapy for GM1 gangliosidosis.
… Sometimes the body’s immune system rejects the treatment. Inflammation may occur.  Gene therapy has come a long way …
News Release
Researchers recommend more rigorous clinical study of dietary management practices for patients with IEMs, which may result in reformulating some medical foods.
… poor growth, enlarged liver, kidney disease, pancreatitis (inflammation of the pancreas), intellectual disability and …
Staff
Dr. Suzanne Hart was the deputy director of the Medical Genetics and Genomic Medicine Fellowship Training Program until she retired in late 2023.
… disease. Children with this condition suffer mouth inflammation and problems with their newly erupted teeth. …
Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… during infancy and childhood. Seizure disorder (epilepsy). Inflammation of the pancreas (pancreatitis).  … Symptoms …
National Advisory Council for Human Genome Research
The Director's Report-Related Documents contain links to materials supplemental to Dr. Eric Green's Director's Report presentation to the National Advisory Council for Human Genome Research in February 2022.
… A New Category Of Disease Marked By Sporadic Fevers And Inflammation Rare disease with Fatal Diagnosis Doesn't Stop …
The Genomics Landscape
In the October 2021 issue of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., introduces us to new scientific director Charles Rotimi, Ph.D., his background and prior accomplishments.
Staff
Cynthia Tifft, M.D., Ph.D. is the deputy clinical director for the National Human Genome Research Institute.
… neuronal apoptosis. This was the first demonstration that inflammation was pivotal in the pathogenesis of lysosomal …
File
… genes identified to date 3 pathways: protein processing, inflammation and lipids Alzheimer’s Disease Introduction 4 • …
The Genomics Landscape
In the February 3, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., reflects on the December 2021 NHGRI symposium's success in confronting the difficult pasts of eugenics and scientific racism.
… spike influences infectivity SARS-CoV-2 may cause fetal inflammation even in the absence of placental infection …