A new population study led by researcher Tomas Paus , professor of psychiatry and neuroscience at the University of Montreal and researcher at CHU Sainte-Justine, highlights the respective roles of maternal and fetal genes in the growth of the baby’s cerebral cortex .
Tag: Genetics
Lab-grown liver organoid to speed up turtle research, making useful traits easier to harness
A team of Iowa State University researchers developed protocols for growing organoids that mimic a turtle liver, the first organoids developed for a turtle and only the second for any reptile. The discovery will aid deeper study of turtle genetics, including the cause of traits with potential medical applications for humans such as the ability to survive weeks without oxygen.
Families living with Noonan Syndrome call for more social support and medical awareness
A survey of more than 60 families living with Noonan Syndrome has highlighted the need for more social support and medical awareness.
Noonan Syndrome, though classed as a ‘rare’ genetic condition, is estimated to affect between 1 in 2000 to 1 in 2500 births in the UK, causing diverse health issues.
The findings of the collaborative study between Loughborough University and the Noonan Association Syndrome are being shared as part of a month-long awareness campaign.
One of the key survey findings is that there is a lack of awareness of the rare genetic condition – even among medical professionals, which can lead to difficulties in accessing care.
Another theme that emerged is that the social and emotional impacts of living with Noonan Syndrome are overlooked for individuals and carers.
The researchers and charity are now calling for greater awareness, research, and support systems.
Individuals and families – including Ian Legg, the Fay family, and Andrea Reid-Kelly – are sharing t
Rare but not forgotten
Finding treatments for children with rare diseases has been a significant hurdle in the medical world. An unexpected source, the common fruit fly, is turning up answers.
Weedy rice gets competitive boost from its wild neighbors
Weedy rice is an agricultural pest with a global economic impact. It is an aggressive weed that outcompetes cultivated rice and causes billions of dollars in yield losses worldwide. A study from Washington University in St. Louis offers new insights into genetic changes that give weedy rice its edge over cultivated rice in tropical regions of the world.
Tawny owl’s pale grey color linked to vital functions ensuring survival in extreme conditions
A recent genetic discovery has revealed that the pale grey plumage of the tawny owl is linked to crucial functions that aid the bird’s survival in cold environments.
Key genes linked to DNA damage and human disease uncovered
Scientists unveil 145 genes vital for genome health, and possible strategies to curb progression of human genomic disorders.
Harnessing Human Evolution to Advance Precision Medicine
Scientists hope to advance precision medicine through the discovery of a gene variant that leads to the same phenotype in separate high-dwelling populations while taking a different evolutionary path.
University Hospitals Selected as Study Site for the Black and African American Connections to Parkinson’s Disease (BLAAC PD) Study
University Hospitals has been selected by the Global Parkinson’s Genetics Program as one of four new study sites for the Black and African American Connections to Parkinson’s Disease (BLAAC PD) study.
Researchers Show SARS-Cov-2 Infection Affects Energy Stores in the Body, Causing Organ Failure
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.
Jean-Laurent Casanova is Recipient of 2023 Maria I. New International Prize for Biomedical Research
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.
Finding the genes that help kingfishers dive without hurting their brains
Scientists discover genes that help kingfishers dive without hurting their brains
Genetics influence the risk of blood clots in oral contraceptive users
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
Holy immunity! Bat genes key against COVID, cancer
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.
Association for Molecular Pathology Publishes Best Practice Recommendations for Liquid Biopsy Assay Validations
The Association for Molecular Pathology has published best practice recommendations for validating and reporting clinical circulating tumor DNA (ctDNA) or liquid biopsy assays and their related scientific publications.
Johns Hopkins Medicine Experts Promote Awareness of Health Care Needs for Dwarfism Community
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.
MSU finds genetic rescue is underused for endangered species recovery
During a recent review of the U.S. Fish and Wildlife Service’s recovery plans for more than 200 endangered and threatened vertebrate species in the United States, Michigan State University researchers made an interesting discovery.
Protein p53 regulates learning, memory, sociability in mice
Researchers at the Beckman Institute for Advanced Science and Technology have established the protein p53 as critical for regulating sociability, repetitive behavior, and hippocampus-related learning and memory in mice, illuminating the relationship between the protein-coding gene TP53 and neurodevelopmental and psychiatric disorders.
New Method Can Improve Assessing Genetic Risks For Non-White Populations
A team led by researchers at Johns Hopkins Bloomberg School of Public Health and the National Cancer Institute has developed a new algorithm for genetic risk-scoring for major diseases across diverse ancestry populations that holds promise for reducing health care disparities.
Ohio State researchers publish national guidelines for ALS genetic testing, counseling
Researchers at The Ohio State University Wexner Medical Center and led the creation of evidence-based consensus guidelines for genetic testing and counseling for patients with amyotrophic lateral sclerosis (ALS), a neurodegenerative disease that affects the cells in the brain and spine.
Largest genetic study of epilepsy to date provides new insights on why epilepsy develops and potential treatments
The largest genetic study of its kind, coordinated by the International League Against Epilepsy (ILAE), has discovered specific changes in our DNA that increase the risk of developing epilepsy.
Understanding Epigenetic Changes in Glial Cells May be Key to Combatting Brain Tumors
Gliomas are incurable brain tumors. Researchers are trying to unlock the mysteries of how they originate from normal cells, which may lead to better treatments.
Green Genetic Engineering: Making Mendel’s Dream Come True with Molecular Scissors
Molecular biologist Professor Holger Puchta from Karlsruhe Institute of Technology (KIT) is granted funding within a Reinhart Koselleck Project by the German Research Foundation (DFG) for work on specific restructuring of plant genomes. Puchta, a pioneer of green genetic engineering,…
Historical DNA Study Connects Living People to Enslaved and Free African Americans at Early Ironworks
A first-of-its-kind analysis of historical DNA ties tens of thousands of living people to enslaved and free African Americans who labored at an iron forge in Maryland known as Catoctin Furnace soon after the founding of the United States.
The study, spurred by groups seeking to restore ancestry knowledge to African American communities, provides a new way to complement genealogical, historical, bioarchaeological, and biochemical efforts to reconstruct the life histories of people omitted from written records and identify their present-day relatives.
NIH funds study of ultrasound with genetics to treat brain disorders
Researchers have developed methods to study and manipulate areas of the brain, though many of those methods are restricted by the limited depth that light can reach within the brain. A multidisciplinary team at Washington University in St. Louis plans to overcome that limitation by integrating ultrasound with genetics to precisely modify neurons in the brain.
Family trees from the European Neolithic
The Neolithic lifestyle, based on farming instead of hunting and gathering, emerged in the Near East around 12,000 years ago and contributed profoundly to the modern way of life.
New genes implicated in deadly heart defect
By identifying genes in patients and testing their effects in fruit flies, researchers from Sanford Burnham Prebys have found new genes that contribute to hypoplastic left heart syndrome.
NUTRITION 2023 Press Materials Available Now
Press materials are now available for NUTRITION 2023, the annual flagship meeting of the American Society for Nutrition (ASN).
Faster progression of multiple sclerosis associated with newly identified genetic variant
In a new study of more than 22,000 people with multiple sclerosis (MS), an international team identified for the first time a genetic variant associated with faster progression of the disease and accumulation of disability. Despite the development of effective…
Novel genetic scoring system helps determine ALS disease risk
A newly created polygenic scoring system — one that weighs the combined effects of common genetic variants — can improve the ability to predict an individual’s risk of developing ALS, a study shows.
Novel Gene Therapy Proving Safe and Successful in Sickle Cell Patients Treated at Cleveland Clinic Children’s
Researchers presenting preliminary data from a clinical trial aimed at discovering a cure for sickle cell disease reveal positive results among its first patients. Sickle cell disease, a genetic blood disorder, is a painful and debilitating condition for which there are few approved therapies.
When Water Temperatures Change, the Molecular Motors of Cephalopods Do Too
Working with live squid hatchlings at Scripps Institution of Oceanography, UC San Diego scientists find the animals can tune their proteome on the fly in response to changes in ocean temperature via the unique process of RNA recoding. The findings inspire new questions about basic protein function.
Penn Medicine at the American Society of Gene and Cell Therapy 26th Annual Meeting
Researchers from the Gene Therapy Program (GTP) at the Perelman School of Medicine at the University of Pennsylvania will present nine abstracts highlighting their translational science and discovery research on gene therapy, gene editing, and adeno-associated virus (AAV) vector technology at the American Society of Cell and Gene Therapy (ASGCT) 26th Annual Meeting on May 16–20, 2023 in Los Angeles, California.
Study finds genetic screening of adults would be cost-effective
An exhaustive cost-benefit analysis of population genetic testing published in Annals of Internal Medicine concludes with a recommendation to U.S. health policymakers to adopt routine testing of adults ages 40 and under for three genetic conditions posing high risk of life-threatening illness.
Cleveland Clinic Rare Disease Center Recognized as a National Center of Excellence by National Organization for Rare Disorders
Cleveland Clinic has been designated a Rare Disease Center of Excellence by the National Organization for Rare Disorders (NORD). The new Cleveland Clinic Center for Rare Diseases is one of 40 U.S. academic medical centers selected to join the first-of-it-kind national network dedicated to diagnosing, treating and researching all rare diseases.
Children’s Hospital of Philadelphia, Princeton Researchers Identify Novel Genetic Disorder
Researchers have discovered a novel genetic disorder associated with neurodevelopmental differences. The discovery identified the disorder in 21 families from all over the world.
Stay CALM when the heart skips a beat
A new CALM mutation causes lethal arrhythmia in humans. Using cardiomyocytes — or heart muscle cells — from human iPS cell and recombinant calmodulin proteins, the group studied catecholaminergic polymorphic ventricular tachycardia — or CPVT, a rare and life-threatening genetic condition. The team was able to reproduce severe arrhythmia in patient-derived iPS cell models of exercise-induced CPVT with calmodulin mutations.
Combination therapy overcomes BET inhibitor resistance
St. Jude Children’s Research Hospital scientists developed a combination therapy for a leukemia subtype harboring rearrangements in the KMT2A gene. The approach overcomes the cancer’s drug resistance, without adding toxicity. The study appears in Proceedings of the National Academy of Science.
Designing More Useful Bacteria
In a step forward for genetic engineering and synthetic biology, researchers have modified a strain of Escherichia coli bacteria to be immune to natural viral infections while also minimizing the potential for the bacteria or their modified genes to escape into the wild.
Genetic variation that protected against Black Death still helps against respiratory diseases today, but increases autoimmune disease risks
The same genetics that helped some of our ancestors fight the plague is still likely to be at work in our bodies today, potentially providing some of the population with extra protection against respiratory diseases such as COVID-19. However, there is a trade-off, where this same variation is also linked to increased autoimmune diseases such as rheumatoid arthritis and inflammatory bowel disease.
Deer protected from deadly disease by newly discovered genetic differences
University of Illinois scientists have found gene variants in deer associated with the animals’ susceptibility to Epizootic Hemorrhagic Disease.
ISU scientists exploit genetic mutation to accelerate plant breeding process
Iowa State University researchers may have solved a long-standing challenge associated with accelerated development of pure genetic lines.
Genes that may predict complications from obesity differ between the sexes
In a new study published February 16, 2023, in Nature Genetics, researchers from the University of Chicago characterized the impact of a genetic variant associated with higher cholesterol and triglyceride blood levels in women, suggesting that similar genes might lead to different patterns of fat distribution and obesity-related disease risk for women.
Argonne researchers share in Chicago Innovation Award for COVID wastewater testing
Argonne’s expertise in biosafety, genetic sequencing and epidemiology help public health officials track which COVID variants are present in Illinois and monitor variants of concern.
Researchers Create New System for Safer Gene-Drive Testing and Development
Researchers have developed a new system for developing gene drives for areas ranging from human health to global food supplies. The new “hacking” system converts split gene drives into full drives, offering new flexibility for safely conducting gene drive experiments in a range of applications.
Study Identifies Cause for Excessive Folding of Gyri in Human Cerebral Cortex
UC San Diego researchers identify mutation that causes excessive folding in human brain’s wrinkly cerebral cortex, resulting in diminished cognitive function.
Study Identifies Cause for Mysterious Cases of Epilepsy in Children
An international consortium led by UC San Diego has identified at least some of the genetic drivers of a mysterious form of pediatric epilepsy.
Zebrafish model helps explain eye development
Scientists at the National Eye Institute (NEI) have developed a zebrafish model of NEDBEH—a rare genetic disorder that can cause coloboma, where parts of the eye are missing due to developmental defects. The model provides a new tool for understanding the eye’s embryonic development. The NEI is part of the National Institutes of Health.
Penn Medicine Awarded $9.7 Million from The Warren Alpert Foundation for Genetic Counselor Continuing Education Efforts
Penn Medicine has received a $9.7 million grant from The Warren Alpert Foundation (WAF) that will fund continuing education efforts for genetic counselors, to ensure opportunities for continued training that will keep them on the leading edge of their profession interpreting genomic data and explaining its implications to patients.
New Computer Program ‘Learns’ to Identify Mosaic Mutations That Cause Disease
UC San Diego researchers describe a method for teaching a computer how to spot complex “mosaic mutations” using an artificial intelligence approach termed “deep learning.”