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- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Staff
Dr. Settara Chandrasekharappa is an associate investigator in NHGRI's Cancer Genetics and Comparative Genomics Branch.
… on adopting genomic technologies for identification of disease genes and the underlying molecular mechanisms leading … the CGU to participate in physical mapping efforts of disease gene regions and positional cloning efforts of genes involved in Menkes disease, Parkinson's disease, and Bardet-Biedl syndrome 1. …
Staff
Dr. Andy Baxevanis is a senior scientist leading NHGRI's Computational Genomics Unit.
… research organisms can be used in the context of human disease research. Using a comparative genomics approach, his … genomes contain a surprising number of human disease gene homologs despite their evolutionarily distant … the potential to serve as viable models for studying human disease. To that end, his group is currently leading an …
Staff
Dr. Amy Bentley is a Staff Scientist with the NHGRI's Center for Research on Genomics and Global Health.
… for Under- identification of African-Americans at-risk for Metabolic Disorders. Expert Review of Endocrinology … SE, Cassano PA. No association between cSHMT genotypes and risk of breast cancer in the Nurses’ Health Study. Eur J Clin … Enzymes and Risk of Chronic Obstructive Pulmonary Disease: A Systematic Review. Thorax 2008; 63 (11): 956-61. … …
Staff
Dr. Leslie Biesecker is a clinical and molecular geneticist in and the chief of NHGRI's Center for Precision Health Research.
… the relationship of genomic variation to health and disease. The laboratory is currently engaged in studies in … generalized knowledge about the broad field of genetic disease and better understand basic mechanisms of normal and … patients undergo extensive and sophisticated phenotypic assessments to generate data essential for understanding the …
Staff
Dr. Tyra Wolfsberg is the associate director of the Bioinformatics and Scientific Programming Core at the National Human Genome Research Institute.
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… analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med , 361:1651-61. 2009. [ PubMed ] Kim YJ, …
Staff
Dr. Manoli is a pediatrician, clinical and biochemical geneticist in the Organic Acid Research Section of the Metabolic Medicine Branch at NHGRI.
… across NHGRI protocols including for the Undiagnosed Disease Program. Inspired by her postdoctoral work on … transgenic MMA mice and modeled clinically relevant disease manifestations, identified disease-related biomarkers and tested diagnostic methods and …
Staff
Dr. Brian Brooks is an adjunct investigator in NHGRI's Center for Precision Health Research.
… the Brooks laboratory is identifying potential clinical risk factors and microforms of coloboma. Using a combination … He is also studying the role these genes play in human disease and non-ocular phenotypes associated with disruption …
Staff
Dr. Paul Liu is a senior investigator in NHGRI's Translational and Functional Genomics Branch.
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… with associated myeloid malignancy, a rare genetic disease caused by germline mutations in RUNX1 . More … malignancies (FPDMM, or simply FPD), an autosomal dominant disease. Patients with this disorder have defective … platelet functions. FPDMM patients have a life-long risk of hematopoietic malignancies, with variable clinical …
Staff
Dr. Heidi Sofia served as a program director in the Division of Genomic Medicine at the National Human Genome Research Institute from 2010-2023.
… the foundation for understanding cancer as a genomic disease and driving innovation in large-scale genomics, …
Staff
Jie Zhou is a data manager and SAS programmer at NHGRI's Center for Research on Genomics and Global Health.
… with Metabolic Syndrome: Implications for Cardiovascular Disease Prevention. CVD Prev Control. 2010 Sep 1;5(3):75-80. … al. Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes. … et al. A variant in CDKAL1 influences insulin response and risk of type 2 diabetes. Nat Genet. 2007 Jun;39(6):770-5. …