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Event
On March 5-6, 2019, the Genomic Medicine Working Group hosted the Genomics in Health and Wellness Meeting in Bethesda, Maryland.
… - 12:55 p.m. Non-healthcare employer offering genetic testing Jane Gilbert (Teachers' Retirement System of … projects to deploy genetic tests and a genetics-based testing program within employer populations and measure and …
Fact Sheets
Deoxyribonucleic acid (DNA) is a molecule that contains the biological instructions that make each species unique.
… blocks are made of three parts: a phosphate group, a sugar group and one of four types of nitrogen bases. To form … nucleotides are linked into chains, with the phosphate and sugar groups alternating. The four types of nitrogen bases … picture the sides of the ladder as strands of alternating sugar and phosphate groups - strands that run in opposite …
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.
… ulcers. These and other symptoms result when mutated red blood cells take a sickle shape, blocking blood flow and decreasing oxygen delivery. Little is known … aim to improve our understanding of the disease." Normal blood cells (left) and the blood cells in Sickle cell …
News Release
It’s teatime and doctors, researchers and patients are at the table. They celebrate a decade of work and launch the first in-human gene therapy trial for children with a rare and devastating disease, GM1 gangliosidosis.
… of sugars and fats. The first worker cuts off the first sugar, the next worker cuts off the next sugar, and so on. The process is smooth and methodical. But …
News Release
Researchers and families are investigating the heritability of attention-deficit hyperactivity disorder or ADHD.
… of medical and mental health, followed by cognitive testing activities. While the adults spoke privately, Luke … The preferred method of taking a DNA sample is to draw blood, since it provides more DNA within a single sample. … quick to offer an alternative. "I was expecting to do a blood draw," Luke explained to me," but instead I just spit …
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
… approximately 600 people in the world, were published in Blood Advances . … "The discovery of new genes associated … ECD is caused by the accumulation of specialized white blood cells called histiocytes in different organs. The … Center. Of 59 samples that were available for molecular testing, half had BRAF V600E gene mutations, which is …
News Release
A new study by researchers at the National Human Genome Research Institute (NHGRI) is challenging traditional practices for validating DNA sequencing results.
… that the 17 variants that were incorrect in the Sanger testing would have been discarded. Dr. Biesecker said the … these data show that variants identified by NGS genetic testing are accurate and reliable, but like all other medical tests, genetic testing is not perfect. He suggested clinicians use their …
News Release
NHGRI researchers identified 59 genes or gene regions linked to canine athletics.
… including those with roles in endurance, heart function, blood flow and pain perception. What terriers lacked in … athletic outcomes. They include genes that regulate blood pressure, muscle size, oxygen use and fatigue …
Fact Sheet
Today, gene therapy for sickle cell disease is considered experimental and only available to you if you participate in a clinical trial.
… also be required to have: Certain screenings (e.g., MRI, blood tests). A genetic test to determine if there are … stem cells to be collected from your bone marrow or blood, taken to a lab for modification, then returned to you. … you may: Stop taking hydroxyurea for 2–3 months. Receive blood transfusions each month to reduce the number of sickled …
NEWS RELEASE
Final outcomes from the most comprehensive analysis to-date of humans and their microbiomes definitively link microbes and microbial activities with health problems.
… study, collected stool samples every fortnight, and drew blood samples every four months from these subjects. Similar … Prediabetes is a health condition where a person’s blood sugar levels are elevated, but not sufficiently high …