Search Results
Staff
Dr. Randy Chandler is an associate investigator in the Organic Acid Research Section of the Metabolic Medicine Branch in NHGRI.
… research focused on adeno-associated virus (AAV) gene therapy for the treatment of hemophilia A, a genetically … Dr. Chandler’s research has focused on the efficacy of gene therapy as a treatment for rare genetic disorders, such … acidemia (MMA), propionic acidemia (PA), and Niemann-Pick Disease, Type C1. His preclinical proof-of-principal studies …
Genetic Disorders
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate.
… performed in a research laboratory or using specific gene studies to look for mutations in the genes known to be …
News Release
Researchers show critical association between diabetes and previously unlinked ZRANB3 gene.
… between diabetes and previously unlinked ZRANB3 gene. … National Institute of Health researchers have … confirmed known genomic variants and identified a novel gene ZRANB3 , which may influence susceptibility to the disease in sub-Saharan African populations. The gene could …
Genetic Disorders
Antiphospholipid Syndrome is a disorder characterized by elevated levels of antibodies that are associated with clots in the arteries and veins.
… certain skin problems, neurological signs, heart valve disease and certain autoimmune diseases have also been noted … no clear inheritance pattern has been identified and no gene has been found to be the sole cause of this condition. … fitted best by either a dominant (one copy of the altered gene inherited from one parent causes the condition) or …
Staff
Abdel Elkahloun is an associate investigator in NHGRI's Office of Scientific Core Facilities.
… drugs treatment and/or assays to further define the disease in question. Most recently, Dr. Elkahloun scientific … 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
Lisa Garrett is an associate investigator and director of the NHGRI Transgenic Mouse Core.
… projects. To this end, she has concentrated on developing gene-editing protocols that will provide more efficient means … an updated guide for protocols using CRISPR/Cas9 and other gene-editing tools. This guide is provided on the in-house … the publication, Highly Efficient Cpf1-Mediated Gene Targeting in Mice Following High Concentration …
News Release
NIH will award nearly $80 million to support the establishment of the Mendelian Genomics Research Consortium and the development of novel methods and approaches that help researchers identify the genetic causes of single-gene diseases.
… help researchers identify the genetic causes of single-gene diseases. Over 400 million people worldwide have been … generally thought to be caused by mutations in a single gene. The awards will be provided by the National Human … researchers have been identifying about 300 Mendelian disease genes each year using a technique called whole-exome …
Staff
Dr. Douglas Stewart is an associate investigator in NHGRI's Center for Precision Health Research.
Staff
Dr. Daniel Shriner is a researcher in NHGRI's Center for Research on Genomics and Global Health.
… influence the risk of developing Alzheimer or Parkinson disease, the two most common neurodegenerative diseases. … N., Tiwari, H. K., and Allison, D. B. 2007. Detection of gene × gene interactions in genome-wide association studies … Köttgen, A., Kao, W. H. L., and Fox, C. S. 2016. Genetic associations at 53 loci highlight cell types and biological …
Educational Resources
Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease.
… test to look for genetic variations associated with a disease. … Genetic Variation, Genetic Testing, Genetic … can be used to confirm or rule out a suspected genetic disease. Results may also be used to determine the likelihood … test to look for genetic variations associated with a disease. … Educational Resources …