Search Results
Staff
Dr. Ours is an Associate Research Physician at the Center for Precision Health Research, NHGRI.
… Dr. Ours research interests involve natural history studies of segmental overgrowth disorders which focus on … teratoma in an adolescent with Proteus syndrome: A novel association . Clin Case Rep . 2021;9(5):e04143. Ours CA , …
Staff
Dr. Douglas Stewart is an associate investigator in NHGRI's Center for Precision Health Research.
… Dr. Stewart studies phenotypes and genetic determinants of familial … affected individuals. His research group established the association among a variety of novel NF1 phenotypes, … 1: genetic, functional and clinical evidence of a novel association. Cancer Research , 69 (18): 7393-7401. 2009. [ …
Research Funding
The N​on-Coding Variants Program explores which variants in a region associated with a disease or trait cause the higher risk for the disease or trait
… of many people are sequenced, millions of sites in the genome differ among those people. Some of these genetic … of genes? A start to interpreting variation is a genome-wide association study (GWAS), in which the genomes of thousands … Stanford University Integration of functional data and GWAS to elucidate genetic basis of disease R01 HG008140 …
Clinical Research
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
… population. Classification of Gaucher Disease There is a wide variation of disease presentation and severity among … presentation of Gaucher disease worldwide. Again, there is wide span of symptoms, some patients are very similar to … Ongoing, currently recruiting: Studies of Genetic Heterogeneity in Patients with Lysosomal …
Educational Resources
A candidate gene is a gene whose chromosomal location is associated with a particular disease or other phenotype.
Educational Resources
BRCA1 and BRCA2 are the first two genes found to be associated with inherited forms of breast cancer.
15 Ways Genomics Influences Our World
Genomics is advancing the study of individual and communities of microbes.
… difference between 2018 and 15 years ago when the Human Genome Project was completed, is that genomics is now used … "flu shot." Even so, just one mutation in the virus's genome can make a big difference in the severity of someone's … next generation. Now that we can track various microbes' genome sequences very accurately, we can see that antibiotic …
Staff
Dr. Michael Erdos is an Associate Investigator in the Molecular Genetics Section of the Center for Precision Health Research.
… T2D. Over 90% of these fall in non-coding regions of the genome, making it difficult to determine what gene has its … not attainable from the FUSION subjects. The aim of these studies is to compile the knowledge gained from studying … colleagues are employing this system in CRISPRi -genome wide gene inhibition experiments to identify critical genes …
Educational Resources
Positional cloning is a laboratory technique used to locate the position of a disease-associated gene along the chromosome.
Clinical Research
FAQs for Autoinflammatory Diseases Study providers and researchers.
… we have a match. We may also be able to conduct functional studies in our lab to evaluate novel findings. Please reach …