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Genetic Disorders
Breast cancer is the second most common cancer in women after skin cancer.
… Breast cancer is the second most common cancer in women after skin cancer. Each year, … Breast cancer is a common disease. Each year, approximately 200,000 women in the … cancer - caused by a mutant gene passed from parents to their children - is rare. Estimates of the incidence of …
News Release
20 papers published online in 2014 highlight research on DNA biorepositories and electronic medical records to better understand the genomics of disease.
… DNA biorepositories and electronic medical records (EMRs) to better understand the underlying genomics of disease. Many of the studies point to new associations of genetic variants with a number of … patient's data and disease characteristics with his or her genomic information collected from stored tissue specimens in …
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.
… Gaucher disease (GD) is a rare (autosomal recessive) genetic … with GD, this enzyme does not function correctly, leading to a buildup of that byproduct. The macrophages malfunction … non-neuronopathic (type 1). Type 1 GD: This is the most common presentation of GD in the United States and in the …
News Release
In a large-scale study of people from diverse ancestries, researchers narrowed down the number of genomic variants that are strongly associated with blood lipid levels and generated a polygenic risk score to predict elevated low-density lipoprotein cholesterol levels, a major risk factor for heart disease.
… ancestral groups substantially improves identification of genomic variants associated with blood lipid levels. … ancestries, researchers narrowed down the number of genomic variants that are strongly associated with blood lipid levels and generated a polygenic risk score to predict elevated low-density lipoprotein cholesterol …
Staff
Dr. Raman Sood is an associate investigator in the Translational and Functional Genomics Branch and director of the Zebrafish Core at the National Human Genome Research Institute.
… in 2001. Dr. Sood’s long-term research interest has been to understand the molecular basis of human genetic disorders. … Genome project, she became interested in the functional genomic analyses of genes using the zebrafish model. With … since 2006. Dr. Sood has learned and applied genetic, genomic and bioinformatics tools to her research ranging from …
Fact Sheet
Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.
… Gene therapy for sickle cell disease is available to you through FDA-approved therapies ( … all treatments. This is a long process and it is important to understand what happens at each step. Talk with your … in a clinical trial or a treatment If you are referred to a certain trial, you should learn about: Phases of a …
News Release
NHGRI researchers seek help from people with Sickle Cell Disease to find the factors - environmental, social and genetic - that impact the severity of symptoms.
… People with sickle cell disease (SCD) can experience excruciating pain all over their … of a lifetime, and why these symptoms differ from person to person. … Bonham's study, Insights Into Microbiome and Environmental Contributions to Sickle Cell Disease and Leg Ulcers Study …
The Genomics Landscape
In the September 3, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about the Impact of Genomic Variation on Function (IGVF) Consortium, the 2020 Genomic Innovator Awards and more.
… As Summer 2020 comes to an end, many of us continue to spend the bulk of our time working from home. If you are seeking some virtual connections to genomics, I would like to offer some “remote learning” … of the central challenges in biology is understanding how genomic variation affects genome function to influence …
Genetic Disorders
Klinefelter syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common symptom is infertility.
… in men as a result of an extra X chromosome. The most common symptom is infertility. … in men as a result of an extra X chromosome. The most common symptom is infertility. Humans have 46 chromosomes, … of cells containing the extra chromosome varies from case to case. In some instances, XY/XXY mosaics may have enough …
Staff
Heather Colley is a Lead Research Training and Career Development Program Officer at the National Human Genome Research Institute.
… that offer a spectrum of opportunities and experiences to individuals at every stage of their careers. Heather is … Ms. Colley was also a program director in the Division of Genomic Medicine, National Human Genome Research Institute … , PAGE Consortium , IGNITE Consortium , and the NIH Common Fund Undiagnosed Diseases Network . Her research …