Search Results
Genomics and Medicine
The categories for the notable accomplishments of research are defined as research that uses genomics to generate or study.
… Categories for the notable accomplishments of research are defined (below) as research that uses … a need for broader research for the systematic uptake of genomic research findings and other evidence-based … into routine practice. Systematic Implementation Uptake of genomics into patients’ medical care with definition and …
File
… fx ! www.acmg.net May 14, 2015 Recent Activities of The American College of Medical Genetics and Genomics The … Trimethylamine N-oxide Production in Patients with Inborn Errors of Metabolism Requiring Supplemental Carnitine Despite … American College of Medical Genetics and Genomics Report.pdf …
Graduate Medical Education
An opportunity for a 4-to-8-week elective in the National Human Genome Research Institute (NHGRI) at the NIH Clinical Center in Bethesda, MD.
… Medical Students Critical Care Medicine Endocrinology and Metabolism Health Services Hematology Hepatology Infectious … To further its mission to train the next generation of physician-scientists and clinician-investigators, the NIH Clinical Center - through the Office of Clinical Research Training and Medical Education - offers …
Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.
… 14, 2024, 4:15 – 5:45 p.m MTCC-718 Phenome-wide Studies of Hereditary Transthyretin Amyloidosis in the All of Us Research Program Clinical Genetics and Therapeutics … A March 14, 2024, 4:15 – 5:45 p.m MTCC-701 Analysis of Patient-Reported Outcomes and a Functional Assessment from …
Clinical Research
Post COVID-19 Vaccine Registry for people with mitochondrial disease who have already received the COVID-19 vaccine.
… The NIH Metabolism, Infection and Immunity (MINI) Section invites … The purpose of this registry is to better understand the side effects and … bearing on your relationship with the National Institutes of Health. We will present and publish the aggregate survey … Are a person with mitochondrial disease OR the caregiver of a child with mitochondrial disease Are age 18 or older …
Clinical Research
MINI Section invites caregivers of children with mitochondrial disease to participate in a survey about the use of immune therapies in children with mitochondrial disease.
… In collaboration with the UMDF, the NIH Metabolism, Infection and Immunity (MINI) Section invites caregivers of children with mitochondrial disease to participate in a survey about the use of immune therapies in children with mitochondrial disease. … receive immune therapies and some do not. The purpose of this study is to understand how widespread these therapies …
File
… OO , Okunola O , Alli O . Genetics Section - ‘Types of Inheritance’, ‘Autosomal Inheritance’, ‘Diagnosis of … Pr evalence and Carrier Frequency of Autosomal Recessive Inborn Errors of Metabolism in India from Publicly Available Next …
For Patients and Families
​Pharmacogenomics combines the science of how drugs work, called pharmacology, with the science of the human genome, called genomics.​
… particular person. This new field combines the science of how drugs work, called pharmacology, with the science of the human genome, called genomics. … particular person. This new field combines the science of how drugs work, called pharmacology, with the science of …
Genetic Disorders
Down syndrome is a chromosomal condition related to chromosome 21.
… loss. Some people who have Down syndrome have low activity of the thyroid gland (hypothyroidism) - an organ in the lower … 21 means that each cell in the body has three copies of chromosome 21 instead of the usual two copies. Having an extra number 21 chromosome …
Infographic
An infographic that explains why we need a new human pangenome reference.
… sequence has been regularly updated as researchers fixed errors and filled in missing regions of the genome, it only reflected data generated from about 20 people. Most of that first human genome reference sequence was just from … sequence is only 92% complete, with an estimated 8% of the human genome missing because of gaps in the sequence. …