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Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
… research institute (nhgri) are working with patients and families to better understand of how genes can cause or … to define the relationship between infection, immunity and clinical decline in individuals with mitochondrial disease. … … a history of inherited diseases, to learn more about the genetic components of common and rare disorders, and to …
Staff
Dr. Ivona Aksentijevich is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… research program of the national institute of arthritis and musculoskeletal and skin diseases (niams) to work as a … diseases. dr. aksentijevich is certified in clinical molecular genetics by the american board of medical … … for almost 30 years, dr. aksentijevich has used genetic and genomic approaches to understand human …
Professional Development Programs
The JHU/NHGRI Genetic Counseling Training Program trains students to conduct research and provides clinical rotations to learn about genetic conditions.
… the jhu/nih genetic counseling training program trains students to conduct social, behavior and policy research in the field of genetic counseling and provides clinical rotations for students to learn directly about …
For Patients and Families
​Clinical research is research conducted with human subjects, or material of human origin, in which the researcher directly interacts with human subjects.
clinical research is research conducted with human subjects, … for studying the fundamental mechanisms of inherited and acquired genetic disorders. … clinical research is research conducted …
Clinical Research
The Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… on the most puzzling medical cases referred to the nih clinical center in bethesda, maryland. it was organized by … (nhgri), the nih office of rare diseases research (ordr) and the nih clinical center. … a longstanding medical … udp researchers the opportunity to gain new insights about genetic and biochemical mechanisms of disease and insights …
Genetic Disorders
Autism is characterized by impaired social interactions, problems with verbal and nonverbal communication and repetitive behaviors.
… by impaired social interactions, problems with verbal and nonverbal communication, and repetitive behaviors or … of autism is based on standardized testing plus a clinical evaluation by an autism specialist. these … or there is a family history of relatives with autism, genetic testing such as chromosome analysis and single-gene …
Genetic Disorders
Marfan syndrome an inherited disorder of connective tissue occurring once in every 10,000 to 20,000 individuals.
… to 20,000 individuals. there is a wide variability in clinical symptoms in marfan syndrome with the most notable occurring in eye, skeleton, connective tissue and cardiovascular systems. marfan syndrome is caused by … and identified in a familial marfan patient(also known as genetic linkage to the gene). the fbn1 gene is the gene …
The Genomics Landscape
In the December 2019 edition of The Genomics Landscape, NHGRI Director Eric Green highlights Ben Solomon joining NHGRI as Clinical Director.
… role. to commemorate my next phase as nhgri director – and to avoid any of the above high-risk activities – i joined … institute and the field of genomics. … ben solomon, nhgri clinical director, with nhgri director dr. eric green and … approaches for the clinical care of patients with genetic disorders. in this role, ben will provide new …
News Release
Clinical geneticist to lead NHGRI’s clinical genomics research efforts
… sarah a. bates, m.s. … clinical geneticist to lead nhgri’s clinical genomics … clinical research program , which provides oversight and guidance to nhgri scientists and physicians working to … improved medical management strategies for patients with genetic disorders. nhgri is part of the national institutes …
Research Funding
​CSER is rapidly advancing the knowledge necessary to develop best practices for implementating genomic sequence data into clinical care. ​
… becomes routine. evidence regarding the most promising clinical applications and the specific diseases or individual susceptibilities most … clinical sequencing across communities in the deep south genetic disorders in newborns kaiser foundation research …