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- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)1
- Genetic Architecture of Complex Traits1
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Multi-Omics for Health and Disease (Multi-Omics)1
Clinical Research
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
… manifestations associated with Gaucher disease. Diseases. 2;5(1). pii: E10. doi: 10.3390/diseases5010010. …
Educational Resources
Fact sheets explaining complex concepts in genomics research to a non-scientific audience.
… (NHGRI) has produced this series of fact sheets to explain complex concepts in genomics research to a non-scientific … … Fact Sheets about Genomics … Fact sheets explaining complex concepts in genomics research to a non-scientific … X Chromosome, Y Chromosome … Fact sheets explaining complex concepts in genomics research to a non-scientific …
Research at NHGRI
The Democratizing Education for Sickle Cell Disease Gene Therapy project developed patient-focused educational materials for the sickle cell community.
Educational Resources
A polygenic trait is one whose phenotype is influenced by more than one gene.
… Genotype, Inherited, Mendelian Inheritance, Phenotype, Complex Disease … A polygenic trait is a characteristic, such …
News Release
NHGRI researchers have released new educational materials to help the sickle cell disease community learn about gene therapies for the disease.
Staff
Dr. Ebony Madden is the Health Equity and Workforce Diversity Program Director in the Training, Diversity and Health Equity Office at the National Human Genome Research Institute.
… interests include population genomics, genomic medicine, complex disease and health disparities. … Levy KD, Blake K, … participants. Gene-environment interplay in common complex diseases: forging an integrative …
Clinical Research
A study to learn more about the role of viral infection and biomarkers of immunity in mitochondrial disease, utilizing new technology with Neoteryx™ fingerstick at-home sampling.
Fact Sheet
With increasing complexity in genomic data, researchers are turning to artificial intelligence and machine learning as ways to identify meaningful patterns for healthcare and research purposes.
… improve our understanding of hidden patterns in large and complex genomics data sets from basic and clinical research … and processes used by humans to analyze and interpret complex scenarios. The field of AI is a dynamic one, and … a launchpad for the widespread adoption of AI in tackling complex biomedical and precision medicine challenges. Apart …
Event
On December 12-13, NHGRI and NIAID will sponsor the 16th Genomic Medicine meeting, Genomic Medicine XVI: Host Genomics and Infectious Disease, in Bethesda MD.
… in the diagnosis, prevention, and treatment of infectious diseases Examine obstacles and potential solutions to … of host genomic information in clinical care of infectious diseases … Meeting Objectives … On December 12-13, 2024, the … and the National Institute of Allergy and Infectious Diseases (NIAID) will co-sponsor the 16th Genomic Medicine …
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… of physical traits of people with many different inherited diseases around the world, including Asia, the Indian … often does not represent the characteristics of these diseases in patients from other parts of the world. …