Over the past decade, the advent of new medications has been a game changer for many children and adults with cystic fibrosis (CF). But while these therapies can significantly enhance lung function, they are not a cure—and not all patients are eligible for them. At Children’s Hospital Los Angeles, the Cystic Fibrosis Center is dedicated to improving the lives of all children with CF.
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.
Recent NCCN Guidelines updates—along with the supporting evidence—will be presented during the NCCN 2024 Annual Conference held in Orlando, Florida April 5-7, and simultaneously online. Visit NCCN.org/conference to learn more and register.
Researchers describe a newly-observed role for the protein Cyclin Dependent Kinase 9 (CDK9) in regulating DNA repair during cellular division, where errors can become the origin of cancerous tumor growth.
In a paper in the prestigious journal Science to appear on Feb. 29, 2024, a multi-institutional team led by scientists at Carnegie Mellon University and University of California at Berkeley found parts of the genome, both within genes and outside of them, that evolved and are associated with vocal learning across mammals. These elements have been linked to autism in humans.
For more than a decade, invasive Asian honeybees have defied evolutionary expectations and established a thriving population in North Queensland, much to the annoyance of the honey industry and biosecurity officials.
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
Harvard Medical School scientists develop new CRISPR-based tool to study the immune function of genes.
New gene-editing approach could optimize how scientists study the immune system’s role in cancer and other immune-mediated diseases.
Researchers from the UCLA Health Jonsson Comprehensive Cancer Center show for the first time that a gene usually linked to giant axonal neuropathy, a rare and severe neurological condition, also plays a role in inhibiting aggressive tumor cell growth in head and neck cancers.
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.
Cancers begin with abnormal changes in individual cells, and the ability to track the accumulation of mutations at the single-cell level can shed new light on the early stages of the disease
Supported by a $2 million R01 grant from the National Institutes of Health, the Auerbach Lab at the Beckman Institute for Advanced Science and Technology will examine how different genes associated with autism spectrum disorders may similarly impact our brain’s neurons, resulting in heightened sensitivity to sounds.
Individuals with Williams syndrome have a gregarious “cocktail party” personality, while those with the opposite genetic alteration, in contrast, tend to have autistic traits and are prone to struggle socially. Research from UC San Diego sheds new light on the gene responsible.
A research project led by Lobelia Samavati, M.D., professor of internal medicine and molecular medicine and genetics at the Wayne State University School of Medicine, and supported by the National Institutes of Health (NIH), has developed a tool to rapidly and inexpensively diagnose sarcoidosis, a chronic inflammatory disease marked by the growth of tiny lumps called granulomas in the lungs and other organs. The tool, which uses a simple blood test, could allow for selective use of more invasive diagnostic tests often used to identify the disease.
The leap year day, Feb. 29, occurs only once every four years, and each year around this time comes a global effort to recognize rare diseases. Some 30 million people in the U.S. — 10% of the population — have a rare disease, and Johns Hopkins Medicine experts are working alongside others around the globe to highlight rare disease impacts on research and treatments and ways to seek expert care.
UC Santa Barbara researchers and collaborators in Colombia, Brazil and Germany are progressing toward an understanding of mechanisms that underlie Alzheimer’s disease, in particular an early-onset, genetic form that has afflicted generations of an extended family in Colombia.
In the GENERATE study, 90% of those who viewed an online genetic education program chose to be tested for inherited predisposition to pancreatic cancer.
BACKGROUNDKnee osteoarthritis (KOA) is a common orthopedic condition with an uncertain etiology, possibly involving genetics and biomechanics. Factors like changes in chondrocyte microenvironment, oxidative stress, inflammation, and immune
Treating complex bacterial infections with customized therapies tailored to the infection and the patient is closer to reality, thanks to researchers at UT Southwestern Medical Center.
A research study named Early Check has screened 1,000 newborns after birth in an effort to help identify rare conditions early, provide treatment, give parents educational information, and connect families with specialists throughout the state of North Carolina.
A new University of Kentucky Markey Cancer Center study published in JCO Precision Oncology demonstrates a feasible way to expand germline genetic testing for patients with cancer.
Certain genes associated with hypertension affect blood pressure from early in life, and they increase the risk of cardiovascular disease as you get older. However, you can do something about it.
The University of Texas MD Anderson Cancer Center’s Research Highlights showcases the latest breakthroughs in cancer care, research and prevention. These advances are made possible through seamless collaboration between MD Anderson’s world-leading clinicians and scientists, bringing discoveries from the lab to the clinic and back. Recent developments at MD Anderson offer insights into drug-drug interactions for patients with acute myeloid leukemia (AML) and myelodysplastic syndromes; patient-derived xenograft models as a viable translational research tool in early-phase clinical trials; a novel gene expression signature to stratify patients with bladder cancer; a potential therapeutic target to overcome treatment resistance in multiple myeloma; a role for mutant p53 in protecting against ferroptosis in triple-negative breast cancer; and diet modifications to improve treatment outcomes in FLT3-mutated AML.
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.
In a world where human activities have left an indelible mark on ecosystems, the preservation of species and natural landscapes has become an urgent global concern.
The recent approval of a CRISPR-Cas9 therapy for sickle cell disease demonstrates that gene editing tools can do a superb job knocking out genes to cure hereditary disease.
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As part of a nationwide collaboration, Broad Clinical Labs researchers have optimized 10 polygenic scores for use in clinical research as part of a study on how to implement genetic risk prediction for patients.
Neuroscientists at Macquarie University in Australia have developed a single-dose genetic medicine that has been proven to halt the progression of both ALS and frontotemporal dementia (FTD) in mice – and may even offer the potential to reverse some of the effects of the fatal diseases.
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.
The discovery of a pair of genes that work in perfect harmony to protect male fertility, could provide new insights into some unexplained cases of the most severe form of infertility, research suggests.
Researchers from the Icahn School of Medicine at Mount Sinai, in collaboration with the Clinical Proteomic Tumor Analysis Consortium of the National Institutes of Health, The University of Texas MD Anderson Cancer Center, Sylvester Comprehensive Cancer Center at the University of Miami Miller School of Medicine, and others, have unveiled a detailed understanding of immune responses in cancer, marking a significant development in the field. The findings were published in the February 14 online issue of Cell. Utilizing data from more than 1,000 tumors across 10 different cancers, the study is the first to integrate DNA, RNA, and proteomics (the study of proteins), revealing the complex interplay of immune cells in tumors. The data came from the Clinical Proteomic Tumor Analysis Consortium (CPTAC), a program under the National Cancer Institute.
Xiao Tian, Ph.D., who recently joined Sanford Burnham Prebys as an assistant professor in the Degenerative Diseases Program, focuses on epigenomic changes and deterioration that influence age-related diseases.
Cedars-Sinai Guerin Children's inauguró hoy una clínica para ofrecer atención multidisciplinar especializada a niños con síndrome de Angelman, una enfermedad del neurodesarrollo rara y grave.
Cedars-Sinai Guerin Children’s opened a clinic today to provide specialized multidisciplinary care for children with Angelman syndrome, a rare and severe neurodevelopmental condition.
UT Southwestern Medical Center is partnering with Pfizer Inc. to develop RNA-enhanced delivery technologies for genetic medicine therapies through the Dallas-based medical center's Program in Genetic Drug Engineering.
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.
Biologists at the U.S. Department of Energy’s (DOE) Brookhaven National Laboratory have demonstrated a new way to boost the oil content of plant leaves and seeds.
In a changing climate, corn growers need to be ready for anything, including new and shifting disease dynamics. Because it’s impossible to predict which damaging disease will pop up in a given year, corn with resistance to multiple diseases would be a huge win for growers.
A new research paper was published in Aging (listed by MEDLINE/PubMed as "Aging (Albany NY)" and "Aging-US" by Web of Science) Volume 16, Issue 2, entitled, “Epigenetic drift underlies epigenetic clock signals, but displays distinct responses to lifespan interventions, development, and cellular dedifferentiation.”
A pair of Iowa State University geneticists are among the first research teams in the world to construct DNA nanoparticles that can express their own built-in genetic instructions.
Scientists can now predict which single-letter changes to the DNA within our genomes will alter genetic instructions and disrupt development, leading to changes such as the growth of extra digits and hearts.
Russell DeBose-Boyd, Ph.D., Professor of Molecular Genetics at UT Southwestern Medical Center, has been awarded the Hill Prize in Biological Sciences from the Texas Academy of Medicine, Engineering, Science and Technology (TAMEST) in recognition of his long-standing research into a key mechanism necessary for cholesterol control.