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News Release
The Clinical Sequencing Exploratory Research Consortium has offered an ethical framework to guide pediatricians in pursuing clinical sequencing studies.
… consent. … In a new analysis, a working group of the Clinical Sequencing Exploratory Research (CSER) Consortium … an ethical framework to guide pediatricians in pursuing clinical sequencing studies, interpreting results, and, … in 2010 to speed the integration of genomics into clinical medicine, is funded by the National Human Genome …
News Release
Dr. William Gahl, NHGRI Clinical Director, gave the Samuel Pruzansky Memorial Lecture on March 23 for the March of Dimes Clinical Genetics Conference.
… Judith Wyatt … Dr. William Gahl, clinical director at the National Human Genome Research … Lecture on March 23 in Phoenix for the March of Dimes Clinical Genetics Conference, he wanted to inspire. "As … established in 2014. The UDN has created a network of clinical centers that receives patient applications, reviews …
For Patients and Families
The partnership engages communities on genomics, informs and shares perspectives, and impacts the focus of research.
… Analyst, Office of the Director Jean Jenkins, Ph.D., Clinical Advisor, Division of Policy, Communications and … ​ … Genomics Education, Health Disparities, Genomics 101, Clinical Trials In Genomics … The partnership engages communities on …
News Release
A new genome-based technology for demystifying undiagnosed illnesses - even rare childhood diseases - is moving into general medical practice.
… how rapidly the use of genome sequencing has moved into clinical practice," said NHGRI Director Eric D. Green, M.D., … Several thousand physicians already have ordered clinical genome or exome sequencing (CGES) for their … in 2014, tens of thousands of patients would be getting clinical genome and exome sequencing." Exome sequencing …
The Informed Consent Resource
Explore the basic elements of informed consent that are required by the Common Rule and that are relevant to genomics.
… such as collecting blood or other tissue samples. In clinical trials guided by genetic information, additional risks could … and scarring at the biopsy site (always). If part of your clinical tissue biopsy is used for research, there will be no …
Staff
Dr. Leslie Biesecker is a clinical and molecular geneticist in and the chief of NHGRI's Center for Precision Health Research.
… Dr. Biesecker is a clinical and molecular geneticist and is the chief of the … in pediatrics at the University of Wisconsin, and in clinical and molecular genetics at the University of … the interpretation and return of results. He co-directs a Clinical Laboratory Improvement Ammendments (CLIA)-certified …
Staff
Cynthia Tifft, M.D., Ph.D. is the deputy clinical director for the National Human Genome Research Institute.
… Human Genome Research Institute where she serves as deputy clinical director and directs the Pediatric Undiagnosed … and undiagnosed diseases.  For many years, Dr. Tifft's clinical and research interests have been lysosomal disorders … Diseases Program, Dr. Tifft coordinates the selection and clinical evaluation of children whose diagnoses have long …
For Patients and Families
An adult has an "undiagnosed condition" when a physician is unable to find a diagnosis for certain characteristics or symptoms.
… on the team. … Participating in a research study or clinical trial can at times be another option when searching … individuals to make a diagnosis. Alternatively, clinical trials or studies may be looking at the …
For Patients and Families
A child has an "undiagnosed condition" when a physician is unable to find a diagnosis for certain characteristics or symptoms.
… health care team. … Participating in a research study or clinical trial can at times be another option when searching … with the goal of making a diagnosis. Alternatively, clinical trials or studies may be looking at the effectiveness of …
Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… the Molecular Neurogenetics Section, is a pediatrician and clinical geneticist in the Medical Genetics Branch of the … University, and completed fellowship training in clinical genetics at the NIH Genetics Training Program. Dr. … and a section chief since 2000. Her research includes both clinical and basic research aspects of Gaucher disease and …