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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 …
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
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 …
Event
NHGRI is conducting three Zoom-based listening sessions to help gather information from the national medical genetics community regarding the current and future state of the medical geneticist workforce.
… community regarding the current and future state of the clinical geneticist workforce. We will conduct these sessions … views regarding key challenges and potential solutions in clinical genetics and genomics, as well as to determine … times are in ET. Request an Accommodation … Virtual … The Clinical Geneticist Workforce: Challenges and Opportunities … …
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 …
News Release
Clinical applications of genomics in neurology and psychiatry will be the focus of the 2014 lecture series Genomics in Medicine at Suburban Hospital.
… Raymond MacDougall … Clinical applications of genomics in neurology and psychiatry … the importance of translating genomic science into clinical care. "Physicians are inspired by genomics but need … genomics of neurology and psychiatry begin this spring … Clinical applications of genomics in neurology and psychiatry …
Careers and Training
NHGRI provides funding to support the development and implementation of modules aimed at providing healthcare professionals with genomic medicine training.
… NHGRI provides funding to support the development and implementation of modules aimed at providing healthcare … knowledge about genomic medicine, genome technologies and clinical applications, and ethical, legal and social issues … providers to integrate polygenic risk scores into clinical care Lead Investigator for Project: Wendy Chung, …
News Release
Healthcare professionals now have access to a range of educational and clinical genomics resources on the Genetics/Genomics Competency Center website
… now have access to a variety of educational and clinical genomics resources thanks to a new partnership … Society of Genetic Counselors , the American College of Clinical Pharmacy , and The Jackson Laboratory are the first … now have access to a range of educational and clinical genomics resources on the Genetics/Genomics …
Staff
Alanna Kulchak Rahm, is a certified genetic counselor, implementation scientist, and Program Director in the Division of Genomic Medicine.
… … Alanna Kulchak Rahm, is a certified genetic counselor, implementation scientist, and Program Director in the … utilization after actionable monogenic findings from clinical sequencing . Am J Hum Genet . 2023 Oct … system with machine-assisted chart review to facilitate clinical genomic diagnosis . BMJ Health Care Inform. 2021 …
Administrative
The Management Analysis and Workforce Development Branch provides advisory services, develops policies and procedures, and coordinates implementation at NHGRI.
… policies and procedures, and coordinates their implementation and evaluation throughout the Institute. … The … develops policies and procedures, and coordinates implementation at NHGRI. ​ … The Management Analysis and … develops policies and procedures, and coordinates implementation at NHGRI. … Administrative …