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- Developmental Genotype-Tissue Expression (dGTEx)1
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
Staff
Dr. Shawn Burgess is the co-deputy director of NHGRI's Intramural Research Program.
… the last decade has been focused on developing efficient gene knockout technologies in zebrafish, coupled with efficient phenotyping of the gene disruptions. … For the last decade, the Burgess lab has … the opportunity to test the function of every vertebrate gene, and by extension, the function of their human homologs. …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… aciduria type III, HPS-2, HPS-3 and HPS-9. The gene responsible for HPS-9, PLDN encodes pallidin, a member … identified NBEAL2 as the gray platelet syndrome (GPS) gene. GPS platelets have no alpha granules, which store … nephrolithiasis due to biallelic mutations in CYP24A , the gene encoding the 24-hydroxylase that inactivates vitamin D. …
Staff
Dr. Neil Hanchard is a clinical investigator within the Center for Precision Health Research (CPHR) and head of the Childhood Complex Disease Genomics Section within the CPHR.
… to COEH through cohort-based and natural-history gene-discovery coupled with functional characterization and … better characterize the vascular and clinical phenotype of gene variant carriers.    Severe Acute Malnutrition (SAM)  … ER, Hanchard NA, Wonkam A. Hydroxyurea-Induced miRNA Expression in Sickle Cell Disease Patients in Africa. Front …
Staff
Binta Jalloh is a postdoctoral fellow at the Center for Research on Genomics and Global Health (CRGGH).
… Cancer Institute’s Laboratory of Receptor Biology and Gene Expression doing single molecule tracking to understand the … of transcription factors important for regulating gene expression in live budding yeast. Her primary role in …
Staff
William J. Pavan, Ph.D. is the chief of NHGRI's Genetic Disease Research Branch.
… model systems to decipher genome function and to dissect gene regulatory pathways in development and disease. His … model systems to discover genome function and to dissect gene regulatory pathways in development and disease. The main … modeling studies demonstrated that neuronal-targeted expression of NPC1 rescued neurodegenerative disease, …
Staff
Dr. Mike Pazin is a program director in the Division of Genome Sciences at the National Human Genome Research Institute.
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… Non-Coding Variants (NoVa) program , and the Genomics of Gene Regulation (GGR) Prior to joining NHGRI, Dr. Pazin was a … conducting research on the role of chromatin remodeling in gene regulation, at Massachusetts General Hospital/Harvard … paralog of Mi2 chromatin remodeling enzymes, regulates expression of neuronal genes. Potts RC, Zhang P, Wurster AL, …
Staff
Dr. Andy Baxevanis is a senior scientist leading NHGRI's Computational Genomics Unit.
… systems such as the eye — found evidence of co-localized expression of both photoprotein and opsin genes in developing … genomes contain a surprising number of human disease gene homologs despite their evolutionarily distant position … similar to the mechanism used by humans, both relying on a gene called Tfap2 but at different life stages. This is the …
Staff
Abdel Elkahloun is an associate investigator in NHGRI's Office of Scientific Core Facilities.
… looking at the characterizing of either the global expression profiles or genes sets to use as framework for … of Mental Health); Dr. Kleinman (first temporal global gene expression across the human life span in normal and … in a cross comparative and integrative analysis of global gene expression profile, Dr. Elkahloun was able to show that …
Staff
Dr. Temesgen Fufa is a program director in NHGRI's Division of Genome Sciences.
… in 2022. He has a long-standing interest to understand how gene regulation plays a role in development and human … Cancer Institute in the Laboratory of Receptor Biology and Gene Expression. Dr. Fufa completed his postdoctoral research at …
Staff
Dr. Settara Chandrasekharappa is an associate investigator in NHGRI's Cancer Genetics and Comparative Genomics Branch.
… as a member of the collaborative group in search of the gene responsible for early onset breast cancer ( BRCA1 ), CGU … CGU to participate in physical mapping efforts of disease gene regions and positional cloning efforts of genes involved … -encoded protein, menin. The lab further investigated the expression of menin in mouse, zebrafish and drosophila …