Search Results
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… is currently being conducted at the Medical Genetics Branch of the National Human Genome Research Institute by Dr. …
Staff
Dr. Marjan Huizing is a staff scientist in the Medical Genetics Branch at the National Human Genome Research Institute.
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… in molecular function that underlie various genetic metabolic disorders, with the hope of developing treatments … Huizing is a staff scientist in the Medical Genetics Branch at the National Human Genome Research Institute. … Marjan Huizing, rare diseases, genetic disorders, metabolic disorders …
Event
On April 16-17, 2018, the National Human Genome Research Institute (NHGRI) and the Eunice Kennedy Shriver National Institute of CHild Health and Human Development (NICHD) hosted a joint workshop - Genomic Medicine for Reproductive, Prenatal and Neonatal Health.
… Development (NICHD) hosted a joint workshop  - Genomic Medicine for Reproductive, Prenatal and Neonatal Health. … Genomic Medicine for Reproductive, Prenatal and Neonatal Health … Development (NICHD) hosted a joint workshop - Genomic Medicine for Reproductive, Prenatal and Neonatal Health. …
News Release
The Human Genome Project has been awarded the 2017 Prince Mahidol Award for ground-breaking advances in the field of medicine.
… Mahidol Award for ground-breaking advances in the field of medicine. The award will be received on behalf of the project … and treating human disease, ushering in the era of genomic medicine." The Thai royal family is awarding its two annual … - given in recognition of advances in public health and medicine - through the Prince Mahidol Award Foundation under …
NEWS RELEASE
Cristina Kapustij, M.S., was named chief of the NHGRI's Policy and Program Analysis Branch.
… has been named chief of the Policy and Program Analysis Branch (PPAB) at the National Human Genome Research Institute … related to the application of genomics to health and medicine are at the forefront," said DPCE Director Laura … research discoveries to uses within the public domain. The branch also serves as an informational resource and liaison …
The Genomics Landscape
In the July 2019 edition of The Genomics Landscape, NHGRI Director Eric Green reflects on the milestones of the Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) Program as it reaches completion.
… Massachusetts General Hospital on July 17 and Genomics in Medicine & Health Strategic Planning Workshop on September … Development (NICHD), the Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) program has explored … Boston Children’s Hospital, and Baylor College of Medicine; Rady Children’s Hospital and Children's Mercy …
Staff
Dr. Lawrence Brody is a senior investigator in NHGRI's Social and Behavioral Research Branch and director of NHGRI's Division of Genomics and Society.
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… genetic mutations that lead to perturbations in normal metabolic pathways and cause disorders such as cancer and … the constituents of folate, vitamin B12, and homocysteine metabolic pathways. The team also established that genetic … investigators in NHGRI's Social and Behavioral Research Branch, he initiated and co-directs the Multiplex Initiative. …
Staff
Christine Chang is a program director in the Division of Genomic Medicine at the National Human Genome Research Institute.
… Chang is a program officer in the Division of Genomic Medicine, joining the National Human Genome Research … in 2014. She manages a portfolio of grants in genomic medicine research. She is also the co-manager of the NHGRI … Chang is a program director in the Division of Genomic Medicine at the National Human Genome Research Institute. …
Staff
Lindsey Criswell, who became the director of the National Institute of Arthritis and Musculoskeletal and Skin Diseases in February, 2021 is also an associate investigator in NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… from UCSF. Dr. Criswell is board certified in internal medicine and rheumatology. … 2021 is also an associate investigator in NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch. … 2021 is also an associate investigator in NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics …
News Release
Researchers sequence the genomes of healthy participants, then analyze the data to find presumed, mutations that might lead to a genetic condition.
… G. Biesecker, M.D., chief of the Medical Genomics and Metabolic Genetics Branch (MGMGB) at the National Human Genome Research … Dr. Biesecker is upbeat about the future of genomic medicine. "These results show that you can dramatically … NIH researchers pilot predictive medicine by studying healthy people's DNA …