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News Release
The Clinical Sequencing Exploratory Research Consortium has offered an ethical framework to guide pediatricians in pursuing clinical sequencing studies.
… he added. Ethical issues in pediatrics are often more complex than in the medical treatment of adults, said Jean … child , the pediatrician can override them. "It's a more complex analysis," said Dr. McEwen, "You've got surrogate … the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, …
Staff
Lindsey Criswell, who became the director of the National Institute of Arthritis and Musculoskeletal and Skin Diseases in February, 2021 is also an associate investigator in NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… Institute of Arthritis and Musculoskeletal and Skin Diseases in February, 2021 is also an associate investigator … (SLE), Sjögren’s syndrome, major histocompatibility complex (MHC), biological pathways, genetic ancestry, … Institute of Arthritis and Musculoskeletal and Skin Diseases in February, 2021 is also an associate investigator …
News Release
NHGRI researchers seek help from people with Sickle Cell Disease to find the factors - environmental, social and genetic - that impact the severity of symptoms.
Research at NHGRI
The Democratizing Education for Sickle Cell Disease Gene Therapy project developed patient-focused educational materials for the sickle cell community.
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. …
Educational Resources
A polygenic trait is one whose phenotype is influenced by more than one gene.
… Genotype, Inherited, Mendelian Inheritance, Phenotype, Complex Disease …
Educational Resources
Sickle cell disease is a hereditary disease seen most often among people of African ancestry.