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News Release
The U.S. National Institutes of Health (NIH) has long invested in basic genetics and genomics research, clinical trials, as well as translational medicine and social science studies, to advance our understanding of this widespread illness to help develop effective therapies.
… the U.S. Food and Drug Administration (FDA) approved two gene therapies for the treatment of sickle cell disease in … One of the new sickle cell treatments uses the CRISPR gene-editing system, a first for humans in the U.S. NIH … The Democratizing Education for Sickle Cell Disease Gene Therapy Project , a collaborative effort that aims to help …
News Release
NIH and Inova Health are launching The Genomic Ascertainment Cohort, a pilot project that will examine gene and gene variant influence on phenotypes.
… and investigate the health consequences of their genes and gene variants. … Reversing a Long-Standing Paradigm To … them to recall genotyped people and examine the genes and gene variants' influence on their phenotypes, an individual's … traits or symptoms and then searching for genes or gene variants that cause or contribute to them. NIH will …
News Release
Doctors and researchers reunite with patient who received gene therapy for GM1 gangliosidosis.
… Doctors and researchers reunite with patient who received gene therapy for GM1 gangliosidosis. … In a sun-lit conference … after Jojo attended the last tea party, she received gene therapy for her rare disorder, GM1 gangliosidosis. … …
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 acting …
News Release
An expert panel from the Clinical Genome Resource (ClinGen) has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and revealing only three of the genes to be definitively associated with the most common form of the disease.
… reporting to physicians. Published papers reporting gene-disease associations vary widely in their study design … the scientific evidence from research papers to place gene-disease relationships into “definitive,” “strong,” … for the clinical genomics community regarding which gene-disease pairs have sufficient evidence to be used …
News Release
NIH researchers have successfully identified differences in gene activity in the brains of people with attention deficit hyperactivity disorder (ADHD). The study, led by scientists at the National Human Genome Research Institute (NHGRI), found that individuals diagnosed with ADHD had differences in genes that code for known chemicals that brain cells use to communicate.
… Health (NIH) have successfully identified differences in gene activity in the brains of people with attention deficit … how specific genes are turned on or off, also known as gene expression . They studied two connected brain regions … inch closer to understanding how genomic differences alter gene expression in the brain and contribute to ADHD symptoms. …
News Release
NIH is launching a program, Molecular Phenotypes of Null Alleles in Cells (MorPhiC), to better understand the function of every human gene and generate a catalog of the molecular and cellular consequences of inactivating each gene.
… a program to better understand the function of every human gene and generate a catalog of the molecular and cellular consequences of inactivating each gene. The Molecular Phenotypes of Null Alleles in Cells … aims to systematically investigate the function of each gene through multiple phases that will each build upon the …
News Release
NIH researchers have identified a gene that makes yeast resistant to a lethal toxin.
… Newly discovered gene helps some yeast endure toxins and can help scientists … this analysis, the researchers determined that the KTD1 gene provides resistance to the K28 toxin. “This gene has never been studied before,” said Sadhu. “Identifying …
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 of …
News Release
NIH will award nearly $80 million to support the establishment of the Mendelian Genomics Research Consortium and the development of novel methods and approaches that help researchers identify the genetic causes of single-gene diseases.
… help researchers identify the genetic causes of single-gene diseases. Over 400 million people worldwide have been … generally thought to be caused by mutations in a single gene. The awards will be provided by the National Human … research community to perform more robust Mendelian gene discovery projects. The new clinical centers will be led …