Gene therapy hope for children with kidney disease
University of BristolResearchers at the University of Bristol have made a remarkable step forward in finding a potential cure for a type of childhood kidney disease.
Researchers at the University of Bristol have made a remarkable step forward in finding a potential cure for a type of childhood kidney disease.
Hypertrophic cardiomyopathy can cause sudden death at any age – but particularly in young people. A Penn State Health heart surgeon discusses prevention.
A study shows new steps toward more patients getting gene therapy
The first gene mapping study on human scalp hair whorls not only shows that hair whorl direction has a genetic basis, but also that it is affected by multiple genes.
Artificial intelligence could hold the key to feeding 10 billion people by 2050 in the face of climate change and rapidly evolving pests and pathogens according to researchers at The University of Queensland.
Through next-generation sequencing, investigators have identified a mutation in the TMCO3 gene in two sisters with short stature.
A new DNA study has nuanced the picture of how different groups intermingled during the European Stone Age, but also how certain groups of people were actually isolated.
The latest headlines from the Food and Water Safety channel on Newswise.
In a landmark moment for the Abigail Wexner Research Institute at Nationwide Children’s, a 5-year-old from Bellefontaine, Ohio, received the first dose of a recently approved gene therapy for Duchenne muscular dystrophy at Nationwide Children’s Hospital, where the therapy was invented and initially tested.
Today, the U.S. Department of Energy (DOE) announced $4.7 million in funding for five new research projects in computational biology. These projects will develop new software and analytical tools to manage the growing quantities of genomics and other data stemming from the study of microbes and other biological systems.
Loss of a gene known as SYNCRIP in prostate cancer tumors unleashes cellular machinery that creates random mutations throughout the genome that drive resistance to targeted treatments, a team led by UT Southwestern Medical Center researchers discovered. The findings, published in Cancer Cell, could lead to new interventions that thwart this process in prostate and other cancer types, making them far easier to treat.
The University of Miami Miller School of Medicine Department of Otolaryngology has received a new $3.2 million, five-year grant from the National Institutes of Health (NIH) to support their multidisciplinary translational research program on human genetic hearing loss (HL), a common sensory disorder affecting more than 28 million Americans.
Researchers at Dana-Farber Cancer Institute have created an AI-based tool that uses tumor gene sequencing data to predict the primary source of a patient’s cancer. The study, published in in Nature Medicine, suggests that this predictive tool, called OncoNPC, could help guide treatment of cancer and improve outcomes in difficult to diagnose cases.
The key to understanding proteins — such as those that govern cancer, COVID-19, and other diseases — is quite simple. Identify their chemical structure and find which other proteins can bind to them. But there’s a catch.
IU researcher Daniella Chusyd and her team are studying elephants' unique evolutionary strategies to better understand human aging — research which will also help better understand the impact human activities can have on elephant health and aging, while informing strategies and policies that allow humans and elephants to coexist.
A Ludwig Cancer Research study has identified a pair of genes whose expression by a type of immune cell within tumors is predictive of outcomes for cancer patients and is linked to a vast network of gene expression programs, engaged by multiple cell types in the tumor microenvironment, that control human cancers.
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.
Using a novel proteogenomic strategy and a variety of machine learning tools, investigators from the Icahn School of Medicine at Mount Sinai and colleagues have identified a 64-protein signature that may predict a subset of ovarian cancer patients who are unlikely to respond to chemotherapy. The multicenter study, published online August 3 in Cell, reports on a pioneering analysis of chemo-refractoriness in high-grade serous ovarian cancer (HGSOC). The work also implicates possible therapeutic targets for these patients.
It’s a beautiful moniker, but for the world's butterfly children’ it belies a devastating reality filled with enormous pain and suffering caused by a rare skin condition – Epidermolysis Bullosa (EB).
Northern muriquis, which live in the Atlantic forest of Brazil, are one of the most endangered species of monkey in the world. Choosing good mates and rearing thriving offspring are key to the species’ long-term survival.To better understand what goes on in the mating lives of muriquis, researchers at the University of Texas at Austin and the University of Wisconsin–Madison turned to the monkeys’ poop to help gain insight into how the primates choose their mates.
The red swamp crayfish—found originally in tropical regions—has become a highly invasive species across the globe. Over the years, they have successfully colonized habitats much colder than their original habitats, but the factors determining their cold resistance have remained elusive. Recently, a group of researchers in Japan has discovered genes that may help the red swamp crayfish produce protective proteins and adapt to the cold.
An international team of researchers has found a genetic variant that may explain why some people of African ancestry have naturally lower viral loads of HIV, reducing their risk of transmitting the virus and slowing progress of their own illness.
Waters Corporation (NYSE:WAT) introduced the first in a new line of size exclusion chromatography (SEC) columns aimed at improving the analysis while lowering the cost of gene therapies, specifically adeno-associated viral (AAV) vectors.
The availability, speed and effectiveness of genomic sequencing increased dramatically during the pandemic, as scientists worldwide rushed to find ways to track and predict the virus’s movement and evolution. It also was critical in the development of effective vaccines. In an essay published today, two NAU biologists argue that building on this momentum is critical in society’s response to future pandemics, but it requires significant collaboration and investment now, before the next pathogen is threatening society.
Researchers have discovered a new way to attack fungal infections. The key is to block fungi from being able to make fatty acids, the major component of fats.
A Penn Medicine and Children’s Hospital of Philadelphia (CHOP) team will seek to develop treatments for three rare, incurable genetic diseases with the help of a $26 million grant from the National Institutes of Health (NIH).
On World Lung Cancer Day, Aug. 1, the Forum of International Respiratory Societies (FIRS) and its founding member, the American Thoracic Society, stress the importance of understanding lung cancer risk factors, as well as the importance of early detection through screening, and treatment.
Human papillomavirus (HPV) has been linked to a significant increase in cancers of the throat and tonsils over the past few decades; this is projected to become the most common form of head and neck cancer by 2030. But a major limitation to reducing treatment intensity is the inability to correctly identify the patients whose HPV-related cancers will be the most responsive to treatment.
Newborn screening for cystic fibrosis (CF) was fully implemented in all 50 states in the U.S. by 2010, but delays in timeliness of evaluation for infants with positive newborn screen tests persist. Through evaluation of national patient registry data, Dr. Martiniano and her team determined that later initiation of CF care is associated with poorer long-term nutritional outcomes.
A mammalian protein previously shown by UT Southwestern microbiologists to inhibit the virus that causes COVID-19 in cell culture also protected live mouse models, significantly limiting infection in the lung cells and diminishing the symptoms. The findings, published in Nature Microbiology, could lead to new strategies to treat COVID-19, which still infects thousands and kills hundreds in the U.S. every week.
Las anomalías cromosómicas son un rasgo característico de las células cancerosas. Los defectos en el genoma derivados de la separación incorrecta de cromosomas (y el ADN que contienen) en cada división celular conllevan crecimiento tumoral y resistencia al tratamiento.
تشوهات الكروموسومات هي السمة المميزة للخلايا السرطانية. تؤدي عيوب الجينوم الناتجة عن الفصل الخاطئ للكروموسومات (والحمض النووي الموجود فيها) أثناء عملية انقسام الخلايا إلى تطور الأورام ومقاومة العلاج.
Erros cromossômicos são uma marca registrada das células cancerígenas. Defeitos no genoma decorrentes da separação incorreta dos cromossomos (e do DNA contido neles) em cada divisão celular promovem crescimento do tumor e resistência a terapias.
UCLA Health researchers have published the largest-ever study of families with at least two children with autism, uncovering new risk genes and providing new insights into how genetics influence whether someone develops autism spectrum disorder.
The American Neuromuscular Foundation, is excited to announce Jerry R. Mendell, MD, as the recipient of the 2023 Best Abstract Award, for his abstract titled, “Long-Term Safety and Efficacy in Patients With Duchenne Muscular Dystrophy 4 Years Post-Treatment With Delandistrogene Moxeparvovec in a Phase 1/2a Study.”
A roundup of the latest medical discoveries and faculty news at Cedars-Sinai.
An international research study led by the University of Vienna (Austria) and the Institute of Evolutionary Biology (IBE) in Barcelona (Spain), recently published in the journal Nature Ecology and Evolution, provides a better insight into the evolutionary history of gorillas.
In a step forward in the development of genetic medicines, researchers at Children’s Hospital of Philadelphia (CHOP) and the Perelman School of Medicine at the University of Pennsylvania have developed a proof-of-concept model for delivering gene editing tools to treat blood disorders, allowing for the modification of diseased blood cells directly within the body. If translated into the clinic, this approach could expand access and reduce the cost of gene therapies for blood disorders, many of which currently require patients receive chemotherapy and a stem cell transplant. The findings were published today in the journal Science.
A soil nematode reanimated from Siberian permafrost had laid dormant for approximately 46,000 years, according to a study.
New research in colorectal cancers directed by investigators at the Johns Hopkins Kimmel Cancer Center suggests that expression of transcription factors — proteins that help turn specific genes on or off by binding to nearby DNA — may play a central role in the degree of DNA methylation across the genome, contributing to the development of different subtypes of these cancers. Methylation is a process in which certain chemical groups attach to areas of DNA that guide genes’ on/off switches.
Investigators at the Icahn School of Medicine at Mount Sinai have designed an innovative RNA-based strategy to activate dendritic cells—which play a key role in immune response—that eradicated tumors and prevented their recurrence in mouse models of melanoma.
Conventional wisdom holds that storing fat around your belly puts you at increased risk for type 2 diabetes. But surprising new findings from the University of Virginia School of Medicine suggest that naturally occurring variations in our genes can lead some people to store fat at the waist but also protect them from diabetes.
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.
A genetic analysis suggests that the servants and retainers who lived, worked, and died at Machu Picchu, the renowned 15th century Inca palace in southern Peru, were a diverse community representing many different ethnic groups from across the Inca empire.
People who carry the gene variant associated with the strongest risk for Alzheimer’s disease may lose their ability to detect odors earlier than people who do not carry the gene variant, which may be an early sign of future memory and thinking problems, according to a study published in the July 26, 2023, online issue of Neurology®, the medical journal of the American Academy of Neurology. The gene variant associated with this increased risk of Alzheimer’s is called APOE e4.
Hidradenitis suppurativa (HS) is a chronic inflammatory follicular disease which causes painful lumps to form under the skin. The lumps typically form in areas where skin rubs together – such as the armpits, groin, and under the breasts. HS can range in severity from occasional fluid-filled abscesses to widespread rope-like scarring, chronic pain, and increase of infection.
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.
Zymo Research Corp, a leading provider of life science technologies, has partnered with Opentrons Labworks, Inc., a leader in lab automation, to revolutionize cell-free DNA isolation and analysis.
Scientists have unraveled the step-by-step activation process of a protein with a deep evolutionary history in all domains of life, opening the door to harnessing its functions for use as a biotechnology tool.