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- Developmental Genotype-Tissue Expression (dGTEx)1
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Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… which genetic changes affect the structure and function of gene products leading to human disease. … A major focus of … how genetic changes affect the structure and function of gene products leading to human disease. … The Genetic Disease … how genetic changes affect the structure and function of gene products leading to human disease. … Research at NHGRI …
Staff
Dr. Acosta is a board-certified pediatric neurologist with the NIH Undiagnosed Diseases Program's GM1 gene therapy trial.
… at the NIH Undiagnosed Disease Program (UDP) and the GM1 gene therapy program led by Dr. Cynthia Tifft. … Her main … investigator and a pediatric neurologist with the GM1 gene therapy trial, she is applying this background by … using DT as part of the assessment of patients from the gene therapy GM1 protocol are strong and encouraging of the …
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
News Release
NHGRI researchers have released new educational materials to help the sickle cell disease community learn about gene therapies for the disease.
… their support networks navigate emerging developments in gene therapies for sickle cell disease. … New educational … to help the sickle cell disease community learn about gene therapies for the disease are now available from … The Democratizing Education for Sickle Cell Disease Gene Therapy Project, led by Vence Bonham Jr., J.D., NHGRI …
News Release
NHGRI researchers have discovered a new inflammatory disorder called vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS), which is caused by mutations in the UBA1 gene.
… “search the genome” approach to reveal how mutations in a gene called UBA1 are associated with inflammatory diseases … syndrome (VEXAS), which is caused by mutations in the UBA1 gene. VEXAS causes symptoms that included blood clots in … syndrome (VEXAS), which is caused by mutations in the UBA1 gene. Credit: Harry Wedel, NHGRI. Researchers at the …
Staff
Dr. Laura Elnitski is a senior investigator in the Translational and Functional Genomics Branch at the National Human Genome Research Institute.
… genomics, epigenetics, and transcriptomics to uncover gene regulatory mechanisms that drive disease progression and … RNA splicing, and chromatin architecture in shaping gene regulation in genetic diseases and cancer. This work … by correlating cross-tissue epigenetic profiles and gene expression . Genome Res . 2019 Apr;29(4):657-667. doi: …
News Release
Researchers find weaker immune response to viral infections in children with mitochondrial disorders
NIH researchers analyzed the gene activities of immune cells in children with mitochondrial disorders and found that their B cells, which produce antibodies to fight viral infections, are less able to survive cellular stress.
… Human Genome Research Institute (NHGRI), who analyzed gene activity of immune cells in children with mitochondrial … called single-cell RNA sequencing, which analyzes gene activity in different cell types, researchers studied … mitochondrial disorders … NIH researchers analyzed the gene activities of immune cells in children with …
News Release
A new study offers insights into why some people's hair goes gray in response to a serious illness or chronic stress.
… the invaders. The researchers found that the MITF/em> gene downregulates the innate immune system's interferon … (or interferon signature) in pigment cells. The MITF gene is a crucial regulator that drives many functions of … that decreased levels of the MITF gene. Decreasing the expression of the MITF gene in the mutant mice increased the …
Profile
After major advances in hematology, David Bodine retires with an eye towards mentorship and a garden
David Bodine, founder of the Hematopoiesis Section and chief of the Genetics and Molecular Biology Branch, advanced the fields of gene therapy and hematology in his 38 years at the NIH. Now, he plans to continue his contributions to science as an emeritus and through training the next generation of scientists.
… Developmental biologists have been able to do single-cell gene expression profiling on whole tissues. If we apply those … do you see as the most exciting future opportunities in gene therapy? Bodine: When we founded the American Society …
Staff
Dr. Randy Chandler is an associate investigator in the Organic Acid Research Section of the Metabolic Medicine Branch in NHGRI.
… research focused on adeno-associated virus (AAV) gene therapy for the treatment of hemophilia A, a genetically … Dr. Chandler’s research has focused on the efficacy of gene therapy as a treatment for rare genetic disorders, such … Kishimoto TK. ImmTOR nanoparticles enhance AAV transgene expression after initial and repeat dosing in a mouse model …