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News Release
Six new grants will support researchers for new computational approaches to search millions of genomic variants for disease susceptibility.
… researchers to develop new computational approaches for searching among millions of genomic variants to find those that make a difference in disease susceptibility or in other traits. The awards are for … RNA structure can lead to diseases in people, including an inherited eye cancer, retinoblastoma. They would like to …
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
… copper. Many foods contain copper, and it is important for people to have a small amount of copper in the body. … water checked for copper content. … Yes. Wilson disease is inherited in what doctors call an autosomal (not on the X … Clearing House Genetic and Rare Diseases Information Center Gene Tests Genetic Alliance National Organization for …
For Patients and Families
Neglected diseases are conditions that inflict severe health burdens on the world's poorest people.
… recover the cost of developing and producing treatments for these diseases. Another reason neglected diseases are not … trypanosomiasis. Commonly called sleeping sickness, this disease is caused by a parasitic microbe transmitted by … Diseases (TRND), program, to create an integrated research pipeline to jump start the development of new …
The Genomics Landscape
In the January 2018 edition of The Genomics Landscape, NHGRI Director Eric Green features the NIH Intramural Sequencing Center.
…  and Nature . While Science's  Breakthrough of the Year for 2017  is the cosmic merger of two neutron stars, the … the field of genomics.  … The NIH Intramural Sequencing Center  (NISC) sits on the top floor of a research building … the role of genomic variants in human health and disease. One such study, ClinSeq , has been exploring the …
News Release
A team from the NIH has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease.
… a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease. … Human Genome Research Institute (NHGRI) and the National Center for Advancing Translational Sciences (NCATS), both … the malfunctioning cells. … Gaucher disease is an inherited condition caused by alterations in the GBA gene. It …
Diversity Center
Meharry Medical College establishes a Diversity Center for Genome Research (DCGR) that will narrow inequitable representation gaps for underrepresented, disadvantaged minority by realizing their vision to promote African ancestry genomic research through infrastructure building and the formation of basic, clinical, and computational science research teams that are inclusive, interdisciplinary, and community-engaged.
… Medical College (MMC) is committed to bridging the gaps for underrepresented, disadvantaged minority (URM) groups by establishing a Diversity Center for Genome Research (DCGR). The Diversity Center will … the college’s other ongoing genomics initiatives. Genotype-disease associations for African ancestry-specific, …
Fact Sheets
Genetics refers to the study of genes and their roles in inheritance. Genomics refers to the study of all of a person's genes (the genome).
… Genetics and genomics both play roles in health and disease. Genetics refers to the study of genes and the way … effects. Genes (units of heredity) carry the instructions for making proteins, which direct the activities of cells and functions of the body. Examples of genetic or inherited disorders include cystic fibrosis (See: Learning …
Genetic Disorders
Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement
… Genetics: The Basics Our genetic material is stored in the center of every cell in our bodies (skin cells, hair cells, … In most cases the other copy of the gene makes up for the one that does not work properly and we are healthy. A … came from a small town in Southern Italy in which PD was inherited from parent to child (dominant inheritance). We …
Staff
Dr. Guanjie Chen is a senior research fellow with the NHGRI's Center for Research on Genomics and Global Health.
… Rotimi laboratory from Howard University and joined the Center for Research on Genomics and Global Health (CRGGH), National … Shriner D, Adeyemo A, Ramos E, Chen G, et al. Mapping of disease-association variants in admixed population. Genome …
Clinical Research
FAQs for Autoinflammatory Diseases Study providers and researchers.
… than 1 month and who have evidence of autoinflammatory disease (such as persistently elevated CRP ). We accept … Ivona Aksentijevich if you would like to further discuss research opportunities. … FAQ for Providers and Researchers … FAQs for Autoinflammatory …