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News Release
NIH researchers demonstrated that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1.
… correcting the single faulty gene that causes Niemann-Pick disease, type C1 (NPC1). The gene therapy involved inserting … a functional copy of the NPC1 gene into mice with the disease; the treated animals were then found to have less … occurs when a faulty housekeeping gene fails to remove cell waste, like lipids and cholesterol. The accumulation of …
Clinical Research
MINI Section invites caregivers of children with mitochondrial disease to participate in a survey about the use of immune therapies in children with mitochondrial disease.
… Section invites caregivers of children with mitochondrial disease to participate in a survey about the use of immune therapies in children with mitochondrial disease. … may know, the therapies that a child with mitochondrial disease receives vary from person to person. Some children …
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
… identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies. Findings on this ultra-rare disease, found in approximately 600 people in the world, were … management were published in 2014.  Monocyte/macrophage cell function is impaired in Erdheim- Chester Disease leading …
Educational Resources
Apoptosis is the process of programmed cell death.
… Apoptosis is the process of programmed cell death. … Programmed Cell Death, Development, DNA Repair, Cancer, Tumor, Cell Division … Apoptosis is the process of programmed cell death. It is used during early development to eliminate … is for some reason prevented, it can lead to uncontrolled cell division and the subsequent development of a tumor. …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… influences in the development of stroke and cardiovascular disease, and may also help lead to new treatment strategies.  … in the prevention and treatment of stroke, cardiovascular disease and many other common diseases," said Stephen R. … a breakdown in a normal cellular process called programmed cell death, and cancer cell survival. They also made …
News Release
NHGRI researchers have discovered that Mediterranean populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the bubonic plague.
… populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the … and traits that are advantageous in some way. "Just like sickle cell trait is positively selected for because it protects … Genomic variation causing common autoinflammatory disease may increase resilience to bubonic plague …
Clinical Research
The NIH Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… Diseases Program (UDP) is part of the Undiagnosed Disease Network (UDN). The UDP was organized by the National … new insights about genetic and biochemical mechanisms of disease, normal cell biology, biochemistry, and physiology. Patient diagnoses … receives HHS award 2019 September 19, 2019: Undiagnosed disease program finds novel genetic variant UAB News 2018 …
News Release
Six new grants will support researchers for new computational approaches to search millions of genomic variants for disease susceptibility.
… genomic variants to find those that make a difference in disease susceptibility or in other traits. The awards are for … the genomes of thousands of people with and without a disease are compared to find the genomic regions containing … Such RNA carries out various regulatory functions in a cell. The researchers have shown that disrupting RNA …
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." …
News Release
In a study published in the journal Science, collaborators at NHGRI, the National University of Ireland, Galway, and the Whitney Laboratory for Marine Bioscience at the University of Florida, Augustine, reported that activation of the gene Tfap2 in adult stem cells in Hydractinia can turn those cells into germ cells in a cycle that can repeat endlessly.
… genes. Piwi1-positive spermatogonia are shown in yellow; cell nuclei are in turquoise. Germ cell induction and all stages of gametogenesis can be … Hydractinia . Piwi1-positive oocytes are shown in yellow; cell nuclei are in turquoise. Germ cell induction and all …