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UrduUC San Diego scientists use lab-grown human brain tissue to identify neural abnormalities in Pitt-Hopkins Syndrome and show gene therapy tools can rescue neural structure and function.
Tag: Genetics
Rutgers Researcher Aims to Protect and Regenerate Corals Through Coral Genomics with $500K NSF Grant and Award-Winning Video
A Rutgers researcher will use genomics, genetics, and cell biology to identify and understand the corals’ response to heat stress conditions and to pinpoint master regulatory genes involved in coral bleaching due to global warming and climate change. The researcher and his team will use a novel gene-editing tool as a resource to knock down some gene functions with the goal of boosting the corals’ abilities to survive.
Scientists Implicate Non-Cardiac Genes in Congenital Heart Disease
UNC-Chapel Hill, Princeton, and Boston Children’s Hospital researchers show how three transcription factors inside the embryonic heart recruit the protein subunit CHD4 for their role known roles in heart health and disease.
Genetic changes differed, increased in people with Alzheimer’s disease
Inside brain cells, errors in DNA can accumulate as we age. But in patients with Alzheimer’s disease, these errors — known as somatic mutations — may build up at a faster rate.
For Neurons, Where They Begin Isn’t Necessarily Where They End
Scientists at UC San Diego School of Medicine and Rady Children’s Institute of Genomic Medicine describe novel methods for inferring the movement of human brain cells during fetal development by studying healthy adult individuals who have recently passed away from natural causes.
Experimental study provides new insights into the genetics of heritable traits
Massive dataset presents unprecedented detail of genotype-to-phenotype map in Saccharomyces cerevisiae, or brewer’s yeast.
New Research Helps Explain the Genetic Basis of Why We Look the Way We Do
Comparing features of a common laboratory fruit fly with its rarer cousin collected from Hawai’i Volcanoes National Park, UC San Diego researchers used CRISPR technology to uncover clues about how high-level control genes called Hox genes shape our appearance.
How to turn specific genes on and off
Type 1 diabetes, rheumatoid arthritis, and cancer are just some of the disorders associated with specific genes not “turning on” and “turning off” as they should.
Can’t Find Your Keys? You Need a Chickadee Brain
For the first time, researchers have shown that there is a genetic component underlying the amazing spatial memories of Mountain Chickadees. Although the genetic basis for spatial memory has been shown for humans and other mammals, direct evidence of that connection has never before been identified in birds.
Penn Medicine Awarded $9.5 Million Grant from The Warren Alpert Foundation to Increase Diversity in Genetic Counseling Programs
Penn Medicine has been awarded a $9.5 million grant from The Warren Alpert Foundation (WAF) to continue its efforts to increase diversity in genetic counseling, a field that, despite impressive leaps forward in genetic knowledge, lacks a diverse workforce.
What’s down there? WHOI study shows environmental DNA is a reliable way to learn about migration from the ocean twilight zone
The mid-ocean “twilight zone” holds the key to several tantalizing questions about the marine food web and carbon-sequestering capacity of the ocean. But studying this vast and remote area is extremely difficult.
Moving Past Conflation of Race and Genetics
Race is not genetic. Race is a social and political construct. However, the conflation of race and genetics is one way that racism persists in medicine and research.
Scientists uncover a gene involved in sexual conflict in fruit flies
Sexual conflict in fruit flies is governed by specifically wired neurons in the brain which have been pinpointed by scientists at the University of Birmingham, UK.
Ancient DNA analysis sheds light on dark event in medieval Spain
An international research team led by the University of Huddersfield’s Archaeogenetics Research Group, including geneticists, archaeological scientists, and archaeologists, has published the genome sequence of a unique individual from Islamic medieval Spain – al-Andalus – the results of which have shed light on a brutal event that took place in medieval Spain.
New cause of inherited heart condition discovered
A UCL-led research team has identified a new gene as a cause of hypertrophic cardiomyopathy, an inherited heart condition affecting one in 500 people.
2022 Rosalind Franklin Young Investigator Award Recipients Announced
The Genetics Society of America (GSA) and The Gruber Foundation are delighted to announce that 2022’s recipients of the Rosalind Franklin Young Investigator Award are Aude Bernheim, PhD, of INSERM; Kara McKinley, PhD, of Harvard University; and Viviane Slon, PhD, of Tel Aviv University.
Penn Medicine Awarded $6 Million to Advance Understanding of Human Genome Function in Health and Disease
The National Institutes of Health (NIH) has selected Penn Medicine as one of 25 award recipients across 30 sites in the United States to serve as Impact of Genomic Variation on Function (IGVF) investigators, with the goal of better understanding how genetic differences impact how human genes function, and how these variations influence human health and disease.
Prehistoric humans rarely mated with their cousins
The researchers re-analyzed previously published DNA data from ancient humans that lived during the last 45,000 years to find out how closely related their parents were.
Social support reduces genetic risk factors that can lead to alcohol use problems
A new study from the Arizona State University Department of Psychology shows that the combination of genetic predisposition to alcohol use disorders and personality type can lead to problematic drinking behaviors. Having strong social support from friends was identified as protective against excessive drinking. The work was published in the Journal of Abnormal Psychology.
MD Anderson Research Highlights for September 8, 2021
The University of Texas MD Anderson Cancer Center’s Research Highlights provides a glimpse into recently published studies in basic, translational and clinical cancer research from MD Anderson experts.
Schizophrenia Study Suggests Advanced Genetic Scorecard Cannot Predict a Patient’s Fate
Researchers at the Icahn School of Medicine at Mount Sinai found that a tool commonly used in research for evaluating a person’s genetic risk for a disease, called a polygenic risk score, was no better at predicting the outcome of a schizophrenia patient’s disease over time than written reports. The results raise important questions about the use of polygenic risk scores in real-world, clinical situations, and also suggest that a doctor’s written report may be an untapped source of predictive information.
Study reveals possibility that many Japanese have undiagnosed Gitelman Syndrome
Clinical Fellow KONDO Atsushi and Professor NOZU Kandai et al. of Kobe University’s Graduate School of Medicine have estimated the prevalence of Gitelman syndrome across different ethnicities using a genome database.
Exercise May Not Offset Genetic Predisposition for Low Exercise Capacity, Impaired Insulin Sensitivity
Article title: Genetically determined exercise capacity affects systemic glucose response to insulin in rats Authors: Michael Schwarzer, Annika Molis, Christina Schenkl, Andrea Schrepper, Steven L. Britton, Lauren Gerard Koch, Torsten Doenst From the authors: “In our model of [high capacity…
Children’s Hospital of Philadelphia Researchers Develop Tools to Measure Skeletal Muscle Function in Patients with Mitochondrial Disease
Researchers successfully developed and validated a new outcome measure to monitor disease severity and progression in patients with impaired skeletal muscle function caused by mitochondrial disease. This measure, named ‘Mitochondrial Myopathy-Composite Assessment Tool’ (‘MM-COAST’), is important to identify specific skeletal muscle and neurological problems in both children and adults with mitochondrial disease and may be used to measure response to treatment interventions in future clinical trials.
Gene Messengers, Rather Than Genes, May Provide Best Disease Clues
Genes can be expressed in different ways depending on how cells process their messengers, aka splicing isoforms. Genetic mutations can damage some splicing isoforms but not others. UC San Diego School of Medicine researchers found that splicing isoforms hit by…
Genetics Determine Hypertension More in Women Than Men
Researchers from the Smidt Heart Institute suggest that, contrary to common belief, the risk of developing high blood pressure has more to do with genetics in women than in men.
Exposure to sunlight enhances romantic passion in humans
Researchers at Tel Aviv University have found that exposure to ultraviolet radiation from sunlight enhances romantic passion in humans.
The Human Genome at Super Resolution
Five-year NIH grant funds new Center for Genome Imaging @ HarvardMed, three other institutions.
Investigators expand Alzheimer’s disease genetics research with a focus on people in the U.S. with African ancestry
Researchers at the Case Western Reserve University School of Medicine, with colleagues from multiple research centers, will study the genomics of Alzheimer’s disease (AD) in people with African heritage throughout the United States.
Researchers Track How Microbiome Bacteria Adapt to Humans via Transmission
Beneficial bacteria in the gut microbiome use different means to transmit from one person to another which impacts their abundance in the gut and the functions they provide, new research has found.
New DNA study provides critical information on conserving rainforest lizards
A study published June 16 in Biotropica by a team of researchers at the University of Washington, the UW Burke Museum of Natural History and Culture, WWF Hong Kong and the University of Colombo has provided an important road map to conserving rough-nosed horned lizards in Sri Lanka.
Exercise Improves Health Through Changes on DNA
While it is widely known that regular physical exercise decreases the risk of virtually all chronic illnesses, the mechanisms at play are not fully known.
New research on the brain’s relay processes could guide treatment for certain brain disorders
New research shows cells gather more data than once believed inside the thal-amus, a relay station of sensory and motor abilities in the brain. That could change how medicine treats schizophrenia, epilepsy and other brain disorders.
Hemp goes ‘hot’ due to genetics, not environmental stress
A new Cornell University study debunks misinformation on websites and in news articles that claim that environmental or biological stresses – such as flooding or disease – cause an increase in THC production in hemp plants.
Rare Inherited Variants in Previously Unsuspected Genes May Confer Significant Risk for Autism
Researchers have identified a rare class of genetic differences transmitted from parents without autism to their affected children with autism and determined that they are most prominent in “multiplex” families with more than one family member on the spectrum.
Elsevier partners with American College of Medical Genetics and Genomics to publish GIM
Collaboration signifies strong commitment by all stakeholders to maintain the journal’s high standards and expand its global prominence
Juicy past of favorite Okinawan fruit revealed
Citrus fruits from the mandarin family have important commercial value but how their diversity arose has been something of a mystery Researchers analyzed the genomes of the East Asian varieties and found a second center of diversity in the Ryukyu…
International collaboration of scientists rewrite the rulebook of flowering plant genetics
How do you study a group of organisms with over 300,000 species, dispersed across all seven continents, and with up to 50 times as much DNA content as the human genome? This is the question posed to biologists studying the…
Harmful body fat not only increases your waistline, but also your risk of dementia
It’s the global epidemic that affects two in every five adults, but as obesity continues to expand waistlines worldwide, researchers at the University of South Australia are warning that harmful body fat can also increase the risk of dementia and stroke.
Research Identifies Potential Role of ‘Junk DNA’ Sequence in Aging, Cancer
The human body is essentially made up of trillions of living cells.
Advanced microscopy shines light on new CRISPR-Cas system
A new study describes how an interdisciplinary team of Cornell researchers used a state-of-the-art microscopy technique to reveal protein structures and key steps of a CRISPR-Cas system that holds promise for developing an improved gene editing tool.
Mount Sinai researchers develop novel therapy that could be effective in many cancers
New York, NY (July 23, 2021) — Mount Sinai researchers have developed a therapeutic agent that shows high effectiveness in vitro at disrupting a biological pathway that helps cancer survive, according to a paper published in Cancer Discovery , a…
Why do some people get severe COVID-19? The nose may know
People who develop severe COVID-19 have markedly blunted antiviral responses in the nasopharynx
Untwisting DNA Reveals New Force That Shapes Genomes
Advances in microscopy have enabled researchers to picture loops of DNA strands for the first time.
Unlocking genetic clues behind aortic aneurysm
After examining nearly the entire human genome for genetic changes that increase risk of aneurysm, researchers discovered a new change in the genetic code of a transcription factor.
Untwisting DNA reveals new force that shapes genomes
Transcription generates a force that moves across DNA strands like ripples through water
New insight on the reproductive evolution of land plants
International consortium offers novel insight into the reproductive evolution of land plants, in new study published in Nature Plants
Study on chromosomal rearrangements in yeast reveals potential avenue for cancer therapy
Researchers from Osaka University uncover a mechanism by which chromosomal rearrangements occur, with implications for novel cancer therapies
Stanford researchers develop tool to drastically speed up the study of enzymes
For much of human history, animals and plants were perceived to follow a different set of rules than the rest of the universe. In the 18th and 19th centuries, this culminated in a belief that living organisms were infused by…
Geneticists reveal how mutation causes childhood cancer; use drug to reverse its effects
Geneticists from Trinity College Dublin have discovered how a specific genetic mutation called H3K27M causes a devastating, incurable childhood cancer, known as diffuse midline glioma (DMG), and – in lab studies working with model cell types – successfully reverse its…