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Staff
Dr. Carsten Bonnemann is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute. ​
… and treating children with complex neuromuscular and neurogenetic conditions. His team uses next-generation genomic tools to … … Carsten Bonnemann, neuromuscular disorders of childhood, neurogenetic conditions, congenital myopathies … Carsten …
Professional Development Programs
The JHU/NHGRI Genetic Counseling Training Program trains students to conduct research and provides clinical rotations to learn about genetic conditions.
… rotations for students to learn directly about genetic conditions, their impact on individuals and their families, … into the cause and clinical history of genetic conditions and behavioral issues surrounding the use of … to help people find useful information about genetic conditions and rare diseases.    JHU DNA Diagnostic …
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… evaluation of patients with complex neuromuscular & neurogenetic conditions without a definite diagnosis. (University of Sri …
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… to better understand expanded carrier screening. Many more conditions, genes and variants are analyzed when expanded … services and access for individuals with genetic conditions. As the culmination of this work one of these … in DSD, and the psychosocial management of these complex conditions. The R. Rodney Howell Symposium, Genomics for the …
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… AC , Abah AA, Ogundana OM. Prevalence of Medical Conditions Among Dental Patients in a South -West Hospital in … B, Thapa S. Understanding of Neuroscience and Spectrum of Neurogenetic Disorders. IBRO -APRC Nepal School. 2020. … cancer, enrolled patients (306); Registered patients with neurogenetic disorders (317) and dementia (175) with …
Research Funding
The following are research areas of interest that have been identified by the participating NIH institutes and centers (ICs). Program Officer contact information is also included.
… health care across a broad spectrum of diseases and conditions,   The broader implications of the expansion of … the ethical, legal, and social implications of: aspects of neurogenetic research with human participants, such as … results to participants or patient consent-related issues; neurogenetic research with human brain tissue; collecting and …
News Release
NHGRI researchers will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of ASHG.
… of two cases lost to follow-up as keys to solving these conditions. (Clinical Genetics and Dysmorphology) 2571W. Joan …
Staff
Dr. Kenneth Fischbeck is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute. ​
… with the goal of developing effective treatments for these conditions. His laboratory's areas of research include the … His laboratory studies the disease mechanisms of these conditions in cell culture and model systems. In addition, …
The Genomics Landscape
In the June 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details the legacy of the Human Microbiome Project as it reaches completion.
… Most of these microbes cannot live outside of the conditions provided by the human body, thus hampering their … this added complexity, iHMP was limited to three disease conditions: preterm birth, onset of inflammatory bowel … metabolic pathways) are gained or lost with these disease conditions. iHMP published a set of papers describing their …
Research at NHGRI
A list of publications led by or in collaboration with the Center for Research on Genomics and Global Health.