Dravet syndrome is a rare, severe epilepsy caused by certain changes in the SCN1A gene. But people with Dravet have a wide range of clinical characteristics that cannot be fully explained by these changes. What else is going on?
As people age, the DNA in their cells begins to accumulate genetic mutations. Mosaic chromosomal alterations (mCAs), a category of mutations acquired in blood cells, are linked with a 10-fold increased risk of developing blood cancer. mCAs hold promise as a tool to identify people at high risk of developing certain cancers and diseases, but they have not yet been studied among a large, diverse cohort of people – a critical step required before such testing can be developed. University of Kentucky Markey Cancer Center researcher Yasminka A. Jakubek, Ph.D., has led the first large-scale effort to understand the co-occurrence of mCAs among individuals of diverse ancestries. The study was published in Nature Genetics Oct. 30.
In an invited commentary, Kathleen Mulvaney, assistant professor with the Fralin Biomedical Research Institute at VTC, talks about the potential of a new drug that has shown early promise in clinical trials for solid tumors by killing cancer cells that lack specific tumor suppressor genes.
Adults and parents of children living with sickle cell disease suggest their acceptance of gene therapy risks grows significantly with condition severity.
A study led by researchers at Stony Brook University shows that age acceleration, when one’s so-called biological clock runs quicker than one’s actual age, is linked to poorer memory and slower rates of processing information. The team measured biological “clocks” derived from the DNA of 142 adults aged 25-65 years old and had the participants complete daily cognitive tests on smartphones. Their findings, which imply that epigenetic age acceleration could be a better indicator of how well a person remembers information and how quickly they work with information, are detailed in the Journal of Gerontology: Biological Sciences.
An international research team, including Jonathan C. Schisler, PhD, in the UNC School of Medicine, has found how SARS-CoV-2 causes widespread “energy outages” throughout major organs, and how these effects contribute to debilitating long COVID symptoms.
A new drug developed by professors from the School of Pharmacy and Pharmaceutical Sciences at Binghamton University, State University of New York has received FDA approval for the treatment of patients with Duchenne muscular dystrophy, a common genetic disease that mostly affects young boys.
The Icahn School of Medicine at Mount Sinai will award its 2023 Maria I. New International Prize for Biomedical Research to Jean-Laurent Casanova, MD, PhD, for revolutionizing our understanding of human infectious diseases through the discovery of genetic and immunological determinants that underpin both rare and common infectious illnesses. The prize honors medical pioneers in the tradition of Maria I. New, MD, a world-renowned researcher in pediatric genetic disorders with a special focus on endocrinology over her six-decade career. Dr. Casanova will receive a prize of $20,000 and will present the Maria I. New Distinguished Lecture during a ceremony to be held in at Icahn Mount Sinai in New York City on November 21, 2023.
CRISPR-Cas9-based genome editing offers hope for treating severe immunodeficiency disorders like SCID, with a novel approach for precise gene replacement, reducing risks and potentially aiding various genetic diseases.
A novel replacement strategy termed GE x HDR 2.0: Find and Replace, developed by researchers from Bar-Ilan University and described in published today in Nature Communications, combines CRISPR-Cas9-mediated genome editing with recombinant adeno-associated serotype 6 (rAAV6) DNA donor vectors to precisely replace the RAG2 coding sequence while preserving regulatory elements.
Researchers at Indiana University Melvin and Bren Simon Comprehensive Cancer Center are unlocking the biology behind aggressive breast cancers in Black women.
Gene therapy currently represents the most promising approach for the treatment of hereditary diseases. Yet despite significant breakthroughs in recent years, there are still a number of hurdles that hinder the wider application of gene therapies.
Harnessing new advances in genomic surveillance technology could help detect the rise of deadly ‘superbugs’
Scientists discover genes that help kingfishers dive without hurting their brains
Risk-averse on/off-target assessment for CRISPR editing without reference genome
For tens of thousands of years, evolution shaped tomatoes through natural mutations. Then, humans came along. For centuries, we’ve bred and cherry-picked tomatoes with our preferred traits.
Researchers hope at least one will treat progressive blindness caused by Usher syndrome type 1F
Científicos de Mayo Clinic están creando una biblioteca extensa de prototipos de ADN de especies bacterianas patógenas. Esta colección única de secuencias genómicas sirve como base de datos de referencia para ayudar a los médicos a brindar diagnósticos certeros y rápidos, y a precisar tratamientos dirigidos para, posiblemente, mejorar los resultados que obtienen los pacientes.
Genetic evidence looked at how salmon were affected by two major culvert replacements near the city of Bellingham. One project, a major upgrade under Interstate-5, had a big impact, while the other old culvert may have been less of a barrier to fish. Researchers at the University of Washington and NOAA are studying the use of eDNA in future environmental impact reporting.
Women with a high genetic predisposition for blood clots are six times more likely to develop a blood clot during the first two years of using contraceptive pills according to a new study from Uppsala University. The results have been published in the American Journal of Obstetrics and Gynaecology
About 40,000 years ago, Neanderthals, who had lived for hundreds of thousands of years in the western part of the Eurasian continent, gave way to Homo sapiens, who had arrived from Africa.
New research examines the complex relationship between gene variants, cardiorespiratory fitness and the development of chronic disease. The study is published ahead of print in Physiological Genomics. It was chosen as an APSselect article for October.
Octopuses are fascinating animals – and serve as important model organisms in neuroscience, cognition research and developmental biology. To gain a deeper understanding of their biology and evolutionary history, validated data on the composition of their genome is needed, which has been lacking until now.
A new genomic study by UCLA biologists shows that whaling in the 20th century destroyed 99% of the Eastern North Pacific fin whale breeding, or “effective,” population — 29% more than previously thought.
Different strains of E.coli can outcompete one another to take over the gut, a new study reveals.
The DNA double helix is composed of two DNA molecules whose sequences are complementary to each other. The stability of the duplex can be fine-tuned in the lab by controlling the amount and location of imperfect complementary sequences.
Human sensory systems are very good at recognizing objects that we see or words that we hear, even if the object is upside down or the word is spoken by a voice we’ve never heard.
A new study suggests making a transition from “old school” genetics to “new school” genomics for species conservation purposes probably isn’t necessary in all cases.
Bats have acquired remarkable traits throughout their evolution. They’re the only mammals that can fly, and they live much longer than other animals their size. But perhaps most impressive is their robust immune system. It protects bats from viruses that wreak havoc in humans, like COVID-19 or Ebola. It also keeps bats relatively cancer-free. How? According to Cold Spring Harbor Laboratory (CSHL) scientists, it’s all in the genes.
A team of European researchers has developed a new test that can accurately measure biological aging in a clinical setting. The discovery was made while studying patients for the aging effects of chronic kidney disease.
An international collaboration is aiming to improve global health by uncovering the effects of genomic and environmental diversity on differences in disease risk observed across the global population, thanks to a new partnership of 20 research groups from around the world.
A new study has unravelled a crucial link between how cancer cells cope with replication stress and the role of Taurine Upregulated Gene 1 (TUG1). By targeting TUG1 with a drug, the researchers were able to control brain tumor growth in mice, suggesting a potential strategy to combat aggressive brain tumors such as glioblastomas.
Basic Research Findings by Johns Hopkins Scientists Focus on Gene Sequencing, Hearing Loss and a Brain Disorder
Evolutionary biologists have for the first time decoded the genetic lineage of a famous killer whale and a pod that once worked alongside whale hunters off the coast of New South Wales.
Multiomics3 analysis that integrates different layers of profiles altogether is challenging, since the number of variables in profile substantially differ from each other. For instance, gene expression profile and genomic DNA methylation profile are often analyzed together, however, there are only tens of thousands of genes, whereas the number of DNA methylation sites are as many as tens of millions.
An international team of scientists has identified nearly a dozen genes that contribute to calcium buildup in our coronary arteries that can lead to life-threatening coronary artery disease, a condition responsible for up to one in four deaths in the United States. Doctors may be able to target these genes with existing medications – or possibly even nutritional supplements – to slow or halt the disease’s progression.
A new study led by Yale scientists shows that the activity of a portion of a human papillomavirus (HPV) protein does not depend on its amino acid sequence or composition.
Through a novel approach detailed in Nature, a massive computational analysis of microbiome datasets more than doubled the number of known protein families. This is the first time protein structures have been used to help characterize the vast array of microbial “dark matter.”
Generating specific cell lineages from induced pluripotent stem cells and embryonic stem cells is the holy grail of regenerative medicine.
Early predictors of cancer evolution under therapy have been identified using an artificial intelligence program to analyze data from tumor samples of patients with glioma, an aggressive and often fatal type of brain cancer. This use of machine learning in precision medicine shows signs of significantly better performance than current grading and diagnostic models.
The Faculty of Medicine, Chulalongkorn University, cordially invites all to attend the “Thailand Hub of Talent for Cancer Immunotherapy International Conference: Portal to Global Collaboration for Next Generation Cell and Gene Therapy Development” on November 16-17, 2023 at Bhumisiri Mangklanusorn Building, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
The “Margaritaville” in Jimmy Buffett’s famous song isn’t a real place, but it’s long been associated with the Florida Keys. This string of tropical islands is home to the only living coral barrier reef in the continental US, along with many animals found nowhere else in the world.
Johns Hopkins Medicine experts lead the longest-running clinic for people with dwarfism and other skeletal conditions. Started in the late 1950s, the clinic, now called the Kathryn and Alan C.
The software's creators have used it to study cancer’s microbiome and made it freely available to the research community.
Research sheds light on how genetics influences the growth of the placenta and reveals a link to increased risk of disease in the mother.
A team of New York University computer scientists has created a neural network that can explain how it reaches its predictions. The work reveals what accounts for the functionality of neural networks—the engines that drive artificial intelligence and machine learning—thereby illuminating a process that has largely been concealed from users.
Scientists testing a new method of sequencing single cells have unexpectedly changed our understanding of the rules of genetics.
In 2019, St. Jude lentiviral gene therapy restored the immune system in multiple infants of X-linked severe combined immunodeficiency disorder (SCID-X1) or “bubble boy disease” at the DNA level. These children can now produce functional immune systems.
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