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- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)1
News Release
NIH recently awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed diseases.
… explore how specific genes and their variations may cause disease in UDN patients. Finally, a one-year grant supports a … in the DNA code - called variants - can cause a disease. Scientists at the center, led by Hugo Bellen, … of Oregon in Eugene, will eventually study the potential disease-causing effects of approximately 200 gene variants …
Educational Resources
Mitochondria are membrane-bound cell organelles (mitochondrion, singular) that generate most of the chemical energy needed to power the cell's biochemical reactions.
… Mitochondria … Mitochondria are membrane-bound cell organelles (mitochondrion, singular) that generate most of the chemical energy needed to power the cell's biochemical reactions. … Mitochondria, Mitochondrial DNA, Cell Biology, Adenosine Triphosphate, ATP … Mitochondria are …
Educational Resources
A centrosome is a cellular structure involved in the process of cell division.
… is a cellular structure involved in the process of cell division. … Cell Division, Basic Biology, Nucleus … A centrosome is a cellular structure involved in the process of cell division. Before cell division, the centrosome …
Educational Resources
A nuclear membrane is a double membrane that encloses the cell nucleus.
… A nuclear membrane is a double membrane that encloses the cell nucleus. … Nuclear Membrane, Chromosome, Cell Biology … The nuclear membrane is a double layer that encloses the cell’s nucleus, where the chromosomes reside. The nuclear …
News Release
Researchers at the NHGRI's Undiagnosed Disease Program have developed a new toolset for finding potential disease-causing gene variants in undiagnosed patients.
… with the National Institutes of Health Undiagnosed Disease Program (UDP) have developed a powerful new toolset for finding potential disease-causing gene variants in undiagnosed patients. The … that could be responsible for an individual's undiagnosed disease, thereby increasing the likelihood of a diagnosis." …
Educational Resources
A nucleus is a membrane-bound organelle that contains the cell's chromosomes.
… A nucleus is a membrane-bound organelle that contains the cell's chromosomes. … Chromosome, Cell, Deoxyribonucleic Acid (DNA) … A nucleus, as related to genomics, is the membrane-enclosed organelle within a cell that contains the chromosomes. An array of holes, or …
Educational Resources
A Golgi body, also known as a Golgi apparatus, is a cell organelle that helps process and package proteins and lipid molecules, especially proteins destined to be exported from the cell.
… Body … A Golgi body, also known as a Golgi apparatus, is a cell organelle that helps process and package proteins and … especially proteins destined to be exported from the cell. … Golgi Apparatus, Camillo Golgi, Cell Biology … A Golgi body, also known as a Golgi apparatus, …
Educational Resources
A fibroblast is the most common type of cell found in connective tissue.
… Fibroblast … A fibroblast is the most common type of cell found in connective tissue. … Cell Biology, Wound Healing … A fibroblast is a type of cell that contributes to the formation of connective tissue, …
Educational Resources
Meiosis is the formation of egg and sperm cells. In sexually reproducing organisms, body cells are diploid, meaning they contain two sets of chromosomes (one set from each parent).
… set from each parent). … Meiosis, Sexually Reproduction, Cell Biology, Chromosome … Meiosis is a type of cell division in sexually reproducing organisms that reduces … a single set of chromosomes. During meiosis, each diploid cell undergoes two rounds of division to yield four haploid …
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.
… Gaucher disease (GD) is a rare (autosomal recessive) genetic … J, Aflaki E, Sidransky E. Induced pluripotent stem cell models of lysosomal storage disorders. Dis Model Mech. … Sidransky E. A new glucocerebrosidase deficient neuronal cell model provides a tool to probe pathophysiology and …