Search Results
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. …
Fact Sheet
Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.
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.
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 …
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. …
The Genomics Landscape
In the November 2019 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the International Common Disease Alliance's scientific plenary and launch meeting in September, which included an international panel on opportunities emerging outside the U.S., North America, and Europe; discussions about polygenic risk scores; and an overview about data platforms, data sharing, and ethics.
… our common goals of understanding and treating common diseases. … Launched in 2012, the NHGRI History of … genomic, social, and cultural determinants of many human diseases. … Genomics Research Prolonged antibiotic treatment … Research Program announced NIH funding bolsters rare diseases research collaborations NIH funds new All of Us …