Articles tagged with Genetic Disorders
Researchers have found a potential new treatment for DHDDS-related disease by creating mini-brains from patients' cells and testing vitamin B3. The study showed significant improvements in patients' symptoms, including reduced tremors and increased energy levels.
A new DNA test offers a much more complete picture of DNA than current standard diagnostics, leading to a diagnosis more often. The test can replace fifteen other tests, making it faster and more efficient for rare genetic disorders.
Researchers describe a novel disorder caused by biallelic loss-of-function variants in the TMEM63B gene, resulting in severe lung disease. The disorder presents with early onset respiratory distress, lung abnormalities, and developmental delay but no epilepsy.
A pediatric ophthalmologist is leading a $1 million NIH grant to study the genetics of cataracts in children. The goal is to develop a comprehensive AI-assisted database of genes associated with potential diseases.
A team of researchers has made a significant contribution to understanding human genetics by mapping the Japanese genome, revealing new insights into genetic disease shaping in the Japanese population. The study nearly doubled the complete reconstruction rate to 91.2%, enabling better personalized medicine and treatment options.
The JTMF Foundation has expanded its footprint with a $3.3 million gift to fund three main initiatives: identifying early signs of Alzheimer's in adults with Down syndrome, expanding access to cutting-edge clinical research, and developing best-practice guidelines.
A new EPI-SLEEP study will investigate the impact of personalized in-ear sleep technology on sleep disturbances and circadian health in adults with epilepsy. The study aims to generate robust evidence for a low-risk approach to improving sleep without adding medication burden.
The HUG-CELL project aims to identify couples at risk of transmitting recessive genetic disorders and Fragile X syndrome. The initiative will create a large genetic database for Brazil to determine the prevalence of hereditary genetic diseases and develop 'risk calculators' based on the diversity of the Brazilian population.
A pilot study of the Participant Engagement Portal (PEP) tool shows that 84% of participants had a positive experience, with high usability and satisfaction rates. PEP facilitates two-way communication between patients and clinicians, allowing for self-reporting of social risk factors and future research opportunities.
Researchers will investigate the link between SYNGAP1 protein deficiency, cilia dysfunction, and clinical symptoms of SYNGAP1-Related Disorders. The study aims to inform rational drug design and provide new insights for targeted therapies.
CURE SYNGAP1 invests in remote assessment tools to broaden access to clinical care and trials for patients with SYNGAP1-Related Disorders. The study aims to evaluate the validity of a standardized remote developmental assessment to reduce travel burden.
The CURE SYNGAP1 COLLECTIVE is a collaborative framework uniting independent SYNGAP1 charities worldwide to accelerate treatments for individuals with SYNGAP1-Related Disorders. The Collective focuses on three primary pillars: research, industry engagement, and patient advocacy.
Children's Hospital Colorado has pioneered a groundbreaking approach to treating cystic fibrosis before birth, resulting in reduced NICU stays and improved pancreatic function. The pioneering care model uses ETI therapy to improve lung health and offers seamless continuation of treatment after birth through breast milk.
Researchers reconstructed the most detailed map of molecular machines that carried out life's functions in an ancient ancestor, revealing hundreds of new genes associated with human diseases. The study confirmed links between three rare disorders and identified potential targets for treating other diseases.
Researchers developed a technique that uses RNA origami to analyze sections of RNA, allowing for accurate sizing of repeat expansions in genetic disorders. The method shows promise for fast and affordable testing in clinical settings.
The 2025 Impact Report showcases tangible progress made by CURE SYNGAP1, including almost $1.8M in grants and the most successful SYNGAP1 Science Conference ever. The report highlights the organization's focus on Collaboration, Transparency, and Urgency, driving momentum for clinical trials and treatments.
CURE SYNGAP1 partners with RARE-X to accelerate ProMMiS study's Patient-Reported Outcome measure data collection. This investment enables the centralized collection of high-quality PROs, essential for regulatory approval and therapy development.
A major new study has found that severe asthma patients are often battling other health conditions, with nearly all suffering from at least one major issue. The study identified three distinct profiles linked to how well asthma is controlled and the treatments needed, offering potential breakthroughs for improving care.
Researchers develop an AI framework to accurately predict RNA splicing and isoform usage, addressing the need for better management strategies in patients with Hutchinson-Gilford Progeria Syndrome. The study highlights the importance of multidisciplinary coordination and prompt decision-making in this high-risk population.
Researchers developed a novel mouse model that mirrors the human disease, revealing molecular mechanisms underlying geleophysic dysplasia. The model replicates severe symptoms, including short stature, heart valve alterations, and early lethality, facilitating the identification of potential therapeutic targets.
Scientists have identified a new drug target for treating Fragile X syndrome by blocking the EPAC2 brain protein, which improves abnormal brain activity and behavioral symptoms. The study uses genetically engineered mice to simulate the condition and finds that EPAC2 levels rise gradually as the brain matures.
Researchers developed RegVelo, an AI framework that models cellular dynamics and gene regulation to predict cellular fate decisions. The model traces developmental trajectories and simulates regulatory interactions, providing insights into hidden drivers of development and potential therapeutic targets.
Researchers have mapped the structure and mechanics of a critical cellular machine that malfunctions in people with rare genetic disorders. The discovery could lead to new treatments and faster diagnoses for children with conditions like infantile encephalopathy, corpus callosum hypoplasia, and Kenny-Caffey syndrome.
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.
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...
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.
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 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 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 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.