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Policies and Guidance
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Staff
Dr. Ivona Aksentijevich is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch. …
Genetic Disorders
Marfan syndrome an inherited disorder of connective tissue occurring once in every 10,000 to 20,000 individuals.
… notable occurring in eye, skeleton, connective tissue and cardiovascular systems. Marfan syndrome is caused by … also contributes to the arms and legs appearing too long. Cardiovascular malformations are the most life threatening … characteristic clinical findings in ocular, skeletal and cardiovascular systems. There are four major clinical …
Genetic Disorders
Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging.
… of joints, hip dislocations and severe, progressive cardiovascular disease. However, various other features … angioplasty in attempts to ease the life-threatening cardiovascular complications caused by progressive … routinely subjected to intense physical force, such as the cardiovascular and musculoskeletal systems. Interestingly, …
The Genomics Landscape
In the May 5, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., pays tribute to one of NHGRI’s founding staff members and current leaders, Bettie Graham, Ph.D., as she reached a truly remarkable milestone: 50 years of service in the federal government.
… issues surrounding preimplantation genetic diagnosis, noninvasive prenatal genetic testing, and newborn DNA …
Staff
Dr. Minear is a program director in NHGRI's Division of Genomic Medicine.
… MM, Khoury MJ. Emerging Concepts in Precision Medicine and Cardiovascular Diseases in Racial and Ethnic Minority … MA , Alessi S, Allyse M, Michie M, Chandrasekharan S. Noninvasive Prenatal Genetic Testing: Current and Emerging … Chandrasekharan S, Minear MA , Hung A, Allyse M. Noninvasive prenatal testing goes global . Sci Transl Med . …
Clinical Research
The CLINSEQ® Study seeks to learn about the role that your genes play in your health.
… testing.  EKG, Echocardiogram and CT Scan: These are noninvasive tests that look at how your heart is working, … testing.  EKG, Echocardiogram and CT Scan: These are noninvasive tests that look at how your heart is working, … Medical Role for Genome Sequencing 2007: Patients with Cardiovascular Disease to Participate in Genetic Sequencing …
News Release
A genetic mutation that triggers bladder cancer in dogs is identical to a mutation that is implicated in multiple human cancers.
… "This means dogs can be diagnosed without expensive imaging and anesthesia." With more than 20,000 dogs a year … More work will be needed to produce an inexpensive, noninvasive test for canine bladder cancer. But if such a …
Staff
Dr. Neil Hanchard is a clinical investigator within the Center for Precision Health Research (CPHR) and head of the Childhood Complex Disease Genomics Section within the CPHR.
… identified novel genes in the development of congenital cardiovascular disorders and rare Mendelian disorders, and … McBride KL. A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a …
News Release
Most pregnant women want recommendations from their doctors when deciding which information to receive from prenatal whole genome sequencing.