Researchers discovered that body temperature plays a key role in which tissues are affected by TRPM4 ion channel mutations. The findings explain why disease-causing TRPM4 mutations lead to mutually exclusive conditions, such as severe skin diseases like PSEK and heart disorders like progressive familial heart block.
A team of scientists at the University of California, Davis, has discovered an inherited form of blindness directly comparable to autosomal dominant optic atrophy (ADOA) in rhesus macaques. The study could lead to a better understanding of ADOA and potentially new treatments.
A study coordinated by the University of Trento has identified a gene therapy for individuals with cystic fibrosis caused by a specific mutation, offering new hope for those currently dependent on drugs. The therapy uses advanced gene editing technology to correct the DNA mutation responsible for the disease.
Researchers from the Salk Institute found that astrocytes play a crucial role in fragile X syndrome symptoms. Correcting dysregulations in star-shaped brain cells improved some symptoms, including reduced seizures and restored molecular balances in a mouse model of FXS. The study validates the importance of studying astrocytes in FXS r...
The consortium aims to forge actionable drug development solutions for patients living with AATD by collaborating on endpoints, biomarkers, and clinical trial design. AIRNA brings RNA editing expertise to the consortium's efforts to accelerate drug development for alpha-1 antitrypsin deficiency.
A new international study shows that gene therapy targeting the OTOF gene successfully restored hearing in most participants, with significant improvements in speech perception and language skills. The treatment remained safe and effective for up to 2.5 years, offering new hope for individuals with inherited deafness.
A new international survey reveals that adults with hypophosphataemic osteomalacia face a substantial disease burden, often under-recognised. The study calls for improved awareness, education, and coordinated care to ensure timely diagnosis and optimal treatment.
The program achieved a definitive genetic diagnosis in nearly half of enrolled children, identifying pathogenic variants across 330 genes. Families received timely diagnoses, allowing accurate genetic counseling and informed reproductive choices, while guiding clinical management and opening access to targeted therapies.
The Alliance for Clinical Trials in Oncology has several active trials specifically designed to help people with head and neck cancers. Trials include testing high-dose prophylactic gabapentin to prevent opioid use during treatment, as well as immunotherapy with nivolumab and cabozantinib for mucosal melanoma and nasopharyngeal carcino...
The organization welcomes Craig Bower, Allison Hirsch Hadar, Susan Johnson, Andrew Schillaci, and Ed Warshauer to its Board of Trustees, succeeding outgoing members. These new leaders join a mission primed for global impact, signaling a reinforced commitment to accelerating safe, effective, and targeted therapies.
Scientists have identified a gene variant in dogs associated with Addison's disease and multiple autoimmune syndrome. The RESF1 gene, also found in humans, could hold key insights for understanding the human form of the condition.
Scientists have discovered a new rare genetic disease caused by a mutation in the RPN1 gene, which affects glycosylation and leads to protein instability. The disease, now termed RPN1-CDG, is characterized by neurodevelopmental issues and has expanded the number of genes associated with OST complex diseases.
Researchers used base editing to correct the SCN8A gene mutation responsible for severe inherited epilepsy. The approach successfully eliminated or reduced seizures and improved brain function in lab mice, offering new hope for treating genetic epilepsies.
A new blood-based biomarker has been discovered to help identify individuals at higher risk of developing cancer in people with Lynch Syndrome. The biomarker uses immune signatures detected in blood samples to provide unique characteristics that can detect cancer risk, allowing for early detection and personalized surveillance.
The Alliance for Clinical Trials in Oncology is enrolling adolescent and young adult cancer patients in various trials, including genetic services and treatment studies. These trials aim to address longstanding gaps in care and improve outcomes for AYAs with cancer.
Researchers developed a new sensor called CAMEO to monitor electrical activity in human cerebral organoids, facilitating research into neurodevelopment and genetic disorders. The device is made of carbon nanotube strands, enabling low-cost and scalable monitoring.
A new survey by Autism BrainNet reveals a significant disconnect between Americans' strong support for autism research and their limited understanding of postmortem brain donation. The survey found that 70% of respondents had never heard of brain donation, despite 92% agreeing its importance in advancing research.
A gene-edited treatment has shown remarkable success against severe sickle cell disease, with 27 out of 28 patients achieving a functional cure and no painful crises. The therapy uses CRISPR/Cas12a technology to modify stem cells and increase levels of fetal hemoglobin.
Researchers at Aarhus University have developed an artificial virus-like DNA needle that can deliver molecules directly into cells. The technique uses DNA origami to assemble the needle and deliver its payload, potentially solving a major issue with many therapies being trapped inside cells.
A collaboration between Karolinska Institutet and Karolinska University Hospital has integrated whole genome sequencing into routine diagnostic investigations for rare diseases. This approach has enabled the diagnosis of a genetic cause in 23% of patients, with diagnoses involving variants in over 1,500 different genes.
The Linda and Mike Mussallem Foundation has donated to USC's Keck School of Medicine to enhance clinical trials for individuals with Down syndrome at risk for Alzheimer's. This will increase domestic and international sites, accelerating the development of treatments specifically for this population.
Researchers define a new genetic disease marked by premature aging and brain function deficits, tracing the cause to a mutated IVNS1ABP gene. The study uses genome sequencing and cellular reprogramming to identify potential treatment targets.
A study by Cincinnati Children's Hospital Medical Center and the eMERGE network found that sharing genetic disease risk information with patients can be done responsibly, with a 70% success rate. The team shared results with over 24,000 people using various methods, including one-to-one conversations for those with higher-risk findings.
CURE SYNGAP1 accelerates treatment development for SYNGAP1-Related Disorders through rigorous research and family-led leadership. The organization has funded over $8 million in grants and identified over 1,707 patients to date.
A study led by Dr. Marco Milán identified mitochondria as a key player in a rare disease causing microcephaly, a condition where the brain develops to a smaller size. The researchers found that mitochondria dysfunction leads to proteotoxic stress, causing cells to accumulate errors in chromosome distribution, resulting in microcephaly.
Sildenafil, an active ingredient in Viagra, shows promising effects in treating Leigh syndrome, a rare genetic disorder causing severe neurological and muscular symptoms. The drug improved muscular strength and neurological symptoms in patients, and also reduced metabolic crises.
A large population study found that female relatives' suicidal intentions may influence women's suicide risk, with shared familial environment and social factors having a key role. The study also found that genetic factors only partly explain the observed sex difference in suicidal behaviors.
The Alliance for Clinical Trials in Oncology is spotlighting new trials for colorectal cancer in March, focusing on early detection methods and treatments for treatment delays and loss of appetite. The trials aim to improve patient outcomes, with several enrolling patients with newly diagnosed colon or rectal cancer.
A new clinical study aims to improve communication between patients and families about genetic risks of colorectal cancer. The trial will compare two methods of sharing genetic test results with close relatives, with the goal of learning which approach helps more family members get necessary genetic testing.
Potassium KCNQ2/3 channels need full functionality to work properly in the brain and reach their correct location. This is linked to their regulation by protein ankG. Altering channel functionality affects neuronal excitability and may contribute to developing new therapeutic strategies for epilepsy.
A team at The University of Osaka has identified a signaling molecule called FGFR3 and a pathway called CREB as key in regulating bone growth. Cells carrying the genetic mutation associated with achondroplasia accumulate in the resting zone and show abnormal behaviors, which included abnormal patterns of division and migration.
Researchers identified three master regulator genes on chromosome 21 that disrupt normal brain activity in individuals with Down syndrome. Overactivating these genes was linked to disruptions in hundreds of other genes involved in learning and memory, providing new insights into the condition.
Researchers developed a systematic framework for matching nutrients to genetic diseases, identifying vitamins B2 and B3 as key players in treating various conditions. The study's findings also revealed a new vitamin-disease interaction involving the NAXD gene and vitamin B3.
Engineers have refined a technology to edit individual genetic base pairs, reducing unintended edits and increasing safety for potential treatments. The new base editors could lead to better outcomes for some cystic fibrosis patients and more accurate models for drug testing.
Dr. Paul Donlin-Asp will investigate the molecular functions and regulation of local SYNGAP1 protein synthesis, aiming to advance therapies for SYNGAP1-related Disorders. The project seeks to map mechanisms controlling SYNGAP1 protein production in neurons.
Dr. Àlex Bayés Puig advances SYNGAP1 research with a new SynGAP biomarker study funded by CURE SYNGAP1, enabling the detection of SYNGAP1 protein levels in blood cells. This breakthrough approach has the potential to transform diagnostics and clinical research for SYNGAP1 patients.
A Goethe University-led study reveals how mutations in the SPRTN enzyme cause chronic inflammation and premature ageing. The research team found that damaged DNA in the cell nucleus leaks into the cytoplasm, activating defense mechanisms and leading to chronic inflammation.
Researchers identify bone-forming cells as driver of scoliosis caused by NF1. Blocking RAS-MAPK signaling pathway with medications halts progression of spinal deformity in genetically engineered mouse model.
The CRISPR-Cas3 system has been shown to induce reliable and extensive deletions of the TTR gene in mouse models of ATTR, reducing serum TTR levels by up to 80%. This technology holds promise for treating not onlyATTR but also other incurable inherited diseases.
Researchers from The University of Osaka discovered that loss of heterochromatin can trigger genetic changes leading to chromosomal rearrangements and diseases like cancer. Accumulation of R-loops at pericentromeric repeats was found to be a key mechanism in this process.
A study published in PNAS found that over 60% of pairs of damaging genetic variants can restore enzyme activity when combined, challenging long-held assumptions about genetics. This phenomenon, known as intragenic complementation, has implications for rare disease diagnosis and treatment.
Researchers identified changes in RNA molecules involved in cell's splicing machinery, causing retinitis pigmentosa in ~30-40% of patients with genetic disorder. Variants in five non-coding RNA genes were found to be responsible for the disease, offering a new diagnostic pathway for families worldwide.
Researchers identified over 200 distinct mutations associated with congenital deafness, including new and family-specific variants. The study provides guidance on communication methods and supports regular ophthalmological follow-up.
A new study by Mass General Brigham researchers found that genetic variants thought to always cause inherited blindness occur in only 28% of people who carry them. The findings challenge traditional models of rare disease genetics, suggesting a need for updated understanding and potentially impacting the development of new treatments.
A recent study from Medical University of South Carolina research team challenges the notion that hypermobile Ehlers-Danlos Syndrome is an isolated connective tissue disorder. The studies reveal a genetic variant associated with the disease and disruption of the immune system, which may be the underlying cause. This new understanding a...
Researchers model Baraitser-Winter syndrome using human brain organoids, finding altered actin genes lead to reduced brain growth and smaller size. The study reveals a single mutation in the cytoskeleton causes disruption in early brain development.
A multi-site study led by CU Anschutz researchers found that people with cystic fibrosis who start triple-drug therapy elexacaftor/tezacaftor/ivacaftor (ETI) can safely reduce many daily lung treatments while maintaining good health for years. The study showed a steady decline in the use of chronic respiratory therapies, including hype...
Dr. Anna Gloyn has been awarded the fifth Transatlantic Alliance Award for her pioneering research on genetic mechanisms of diabetes and precision medicine. Her collaborative work with colleagues across Europe and the United States has significantly advanced our understanding of the genetic basis of diabetes.
Researchers discovered that one microorganism can live with a bit of ambiguity in its genetic code, synthesizing two different proteins seemingly at random. This finding contradicts a long-held dogma and has implications for future disease therapies, including treating diseases caused by premature stop codons.
Researchers have identified regions of the human genome particularly prone to mutations, which can be inherited by future generations. The mutated stretches of DNA are located at the start point of genes and are more susceptible to errors during cell division.
Researchers have discovered that a mitochondrial mutation can remodel immune cell function and inflammatory signalling, leading to whole-body issues in animal models. This finding offers a plausible hypothesis for why individuals with these disorders often experience problems with multiple organs and repeated infections.
A new AI model called popEVE can identify genetic variants most likely to cause severe disease and death in patients. The model produced a score for each variant indicating its likelihood of causing disease and placed variants on a continuous spectrum.
A research team led by the University of Minnesota Medical School will investigate alternative genetic decoding in single-celled organisms and identify readthrough-inducing drugs to treat genetic disorders caused by premature termination codons. The goal is to restore normal function of genes and proteins in cells, potentially helping ...
Researchers are conducting a 5-year study to understand how children with Down syndrome develop expressive communication skills, including gestures, sounds, and spoken words. The team aims to create a personalized guide for families and professionals to provide tailored support.
A new urine test can detect SORD deficiency, a common cause of inherited nerve disease, earlier and more cheaply than genetic tests. The test has brought understanding and access to care for affected families, particularly in the Old Order Amish community.
Scientists have developed a targeted genetic test to improve diagnosis for X-linked dystonia-parkinsonism, a rare and disabling movement disorder that affects primarily men of Filipino ancestry. The test correctly identified cases that routine sequencing methods have missed, leading to proper diagnoses and end diagnostic odysseys.
Fondazione Telethon's gene therapy Waskyra, treating Wiskott-Aldrich Syndrome, has received CHMP positive opinion and marketing authorisation in the European Union. The therapy offers new hope for patients affected by this rare genetic disorder.
A new genetic risk score combines rare and common gene variants with non-coding genome information to predict arrhythmia risk. This comprehensive framework can be applied to other genetically influenced diseases like cancer and Parkinson's Disease.
Researchers used a tool to measure pre-speech communication skills in infants with neurogenetic syndromes, including Down, Angelman, and Fragile X. The study found developmental differences among the groups, which may offer clues to better understanding and treatment of these conditions.
A research team, including Dr. Yong Xu, will use the grant to investigate genetic changes affecting hypothalamic pathways and their impact on metabolism and behavior in humans and animals. The study aims to unravel the precise way brain wiring controls instinctive behavior across species.