An international team that includes multiple Rutgers scientists has made significant progress in understanding the genetic causes of Tourette syndrome. They estimate that over 400 singular or combined mutated genes could pose a risk for Tourette syndrome, suggesting the disorder is as complex as autism, epilepsy, and intellectual disability. The study appears in the journal […]Continue Reading ...
Credit: CC0 Public Domain In the largest DNA sequencing study of Tourette Disorder (TD) to date, UC San Francisco researchers and their collaborators have unearthed new data suggesting a potential role for disruptions in cell polarity in the development of this condition. The researchers focused on “de novo” mutations, or rare mutations that arise anew […]Continue Reading ...
Jerold Chun, M.D., Ph.D., professor and senior vice president of Neuroscience Drug Discovery at SBP Credit: Sanford Burnham Prebys Medical Discovery Institute Unlike most cells in the rest of our body, the DNA (the genome) in each of our brain cells is not the same: it varies from cell to cell, caused by somatic changes. […]Continue Reading ...
Credit: CC0 Public Domain The taller you are, the more likely you are to develop varicose veins, according to a study led by Stanford University School of Medicine researchers that examined the genes of more than 400,000 people in search of clues to what causes this common but little understood condition. “Genes that predict a […]Continue Reading ...
Hebrew U’s Professor Ron Ofri (left) and Hadassah’s Dr. Edward Averbukh (right) operating on a sheep. Credit: Hebrew University Back in 2009, a group of Israeli researchers identified a herd of Awassi sheep suffering from “day blindness”. As its name implies, these sheep were blind during the day (in bright light) but could see at […]Continue Reading ...
VMAT1 (vesicular monoamine transporter 1) is encoded by the SLC18A1 gene, which is involved in transfer monoamines, such as dopamine and serotonin. Credit: Daiki Sato How and why human-unique characteristics such as highly social behavior, languages and complex culture have evolved is a long-standing question. A research team led by Tohoku University in Japan has […]Continue Reading ...
The human microbiome is dynamic during pregnancy, with shifts in strains, species and predicted functions at each colonized body site. Understanding its role in maternal health has important implications for fetal development and gestational outcome. Credit: CSHL Press The collection of an estimated 100 trillion resident microorganisms of the human body, termed the human microbiome, […]Continue Reading ...
The hypothesis of the study is illustrated with an example in which an individual is heterozygous for both a regulatory variant and a pathogenic coding variant. The two possible haplotype configurations would result in either decreased penetrance of the coding variant, if it was on the lower-expressed haplotype, or increased penetrance of the coding variant, […]Continue Reading ...
Visualization of tubule-specific candidate genes. The color of each link shows the relationship confidence, from green (0.01) to red (1). Credit: Katalin Susztak, MD, PhD, University of Pennsylvania The kidney does more than double or even triple duty compared to other organs—it extracts waste, balances body fluids, forms urine, regulates blood pressure, and secretes hormones. […]Continue Reading ...
Credit: CC0 Public Domain Over 500 new gene regions that influence people’s blood pressure have been discovered in the largest global genetic study of blood pressure to date, led by Queen Mary University of London and Imperial College London. Involving more than one million participants, the results more than triple the number of blood pressure […]Continue Reading ...
Transmission electron micrograph of influenza A virus, late passage. Credit: CDC Currently available vaccines for the prevention of seasonal influenza virus infection have limited ability to induce immunity against diverse H3N2 viruses, an influenza A subtype that has led to high morbidity and mortality in recent years. Now, Wistar scientists have engineered a synthetic DNA […]Continue Reading ...
This stylistic diagram shows a gene in relation to the double helix structure of DNA and to a chromosome (right). The chromosome is X-shaped because it is dividing. Introns are regions often found in eukaryote genes that are removed in the splicing process (after the DNA is transcribed into RNA): Only the exons encode the […]Continue Reading ...
Gout in X-ray of left foot. Credit: Hellerhoff/Wikipedia. University of Otago researchers have helped characterise a genetic variant that enables new understanding of why some people are at risk of gout, a painful and debilitating arthritic disease. Gout is caused by persistently elevated levels of urate in the blood, which causes severe joint pain and […]Continue Reading ...
Cells make proteins based on blueprints encoded in our genes. These blueprints are copied into a raw RNA message, which must be edited, or spliced, to form a mature message that can direct the cellular machinery that synthesizes proteins. CSHL scientists have rigorously analyzed how mutations can alter RNA messages at the start of a […]Continue Reading ...
Ultraviolet radiation causes accumulation of collagen in the skin of mice deficient in the Cockayne syndrome group B protein (bottom right). The left column shows stained skin from wild type mice. Credit: M. Majora et al., Science Translational Medicine (2018) Cockayne syndrome is a rare hereditary disease that can lead to dwarfism, neurological impairment, premature […]Continue Reading ...
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