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Staff
Lisa Garrett is an associate investigator and director of the NHGRI Transgenic Mouse Core.
… Texas. Following completion of her undergraduate studies, she received technical training at the University of … models of cancer. At this time, she started her graduate studies at Hood College in Frederick and received her Masters … generating targeted insertions and other applications for studies in transgenic mice. …
Educational Resources
Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease.
… performed in the context of medical care, ancestry studies or forensics. In a medical setting, the results of a …
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. [ …
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 …
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 …