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News Release

NIH researchers unlock pattern of gene activity for ADHD

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 …

News Release

NIH pilot project will match researchers to genes, gene variants of interest

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

NIH researchers discover new gene involved in a toxic competition among yeast

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 …

News Release

NIH researchers uncover genes linked to common recurrent fever in children

NHGRI researchers have discovered clues to the possible cause of recurring, non-contagious fevers and sores that affect only children. Several genes have been implicated with the syndrome, known as PFAPA syndrome (Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis), which could lead to new treatments.

… that the syndrome is caused by mutations in a single gene, they considered the possibility that multiple genes are … symptom – canker sores. The group looked into whether the gene variants known to be associated with those diseases were … genes involved in the immune system also showed increased expression in patients, such as STAT4 , IL10 , and CCR1-CCR …

News Release

Tea party reunion marks milestone in treatment of rare genetic disorder

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 … after Jojo attended the last tea party, she received gene therapy for her rare disorder, GM1 gangliosidosis. … … disorder caused by alterations in the DNA of a single gene, the GLB1 gene. The GLB1 gene makes an important enzyme …

News Release

One patient's diagnostic odyssey ends at the NIH Clinical Center

Genomic analyses turned up genes that belong to inflammatory pathways.

… They found that Rohith had a mutation in both copies of a gene involved in a process that affects protein function …

News Release

How a tiny and strange marine animal produces unlimited eggs and sperm over its lifetime

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.

… of Florida, Augustine, reported that activation of the gene Tfap2 in adult stem cells in Hydractinia can turn those … us to quickly narrow down the search for the specific gene or genes that tell Hydractinia’ s stem cells to become … structures of Hydractinia . They found that the Tfap2 gene was much more active in the sexual polyps than in the …

Profile

William Pavan retires after nearly 30 years of discovering gene functions and pathways

Dr. Pavan looks back on his career at NHGRI, highlights pivotal moments and shares his future plans in artistic woodworking and community mediation.

… transformative discoveries are made. We would identify a gene from a screen or from observing a trait in an animal model, and then we explored what that gene did. That would often take us into a system or field … Branch that focused on understanding genome function and gene pathways in development and disease. As head of the …

News Release

Sickle cell disease community hopeful genome editing will rechart course of disease

Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.

… and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease (SCD). … A First-of-its-Kind Study CRISPR-Cas9 is a gene editing technology that researchers have harnessed to … SCD mutation by removing and replacing it with a normal gene, while the second approach increases the production of …

News Release

NHGRI project creates new educational materials for sickle cell disease community

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 …