Genetic Disorders
Articles tagged with Genetic Disorders
Toloo Taghian awarded $3.2M to develop gene therapy for a rare genetic disease
Gut problems in people with a genetic disorder are not cause by structural problems with the gullet, as previously assumed
Molecular basis of multicentric carpotarsal osteolysis (MCTO) nephropathy: Pathogenic MAFB accumulation and PI3K/AKT signaling
New AI tool developed by Stowers Institute and Helmholtz Munich scientists predicts how cells choose their future — helping uncover hidden drivers of development
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.
Children with rare, debilitating brain diseases suffer from mutations in a little-known protein complex
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.
Cold hands, warm heart — Body temperature a key factor in where TRPM4 mutations cause disease
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.
Identifying genetic causes of blindness in people and macaques
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.
Cystic fibrosis: research advances
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.
How do astrocytes contribute to fragile X syndrome?
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...
Hearing restoration from gene therapy for inherited deafness lasts years, new trial results show
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.
AIRNA joins C-Path’s Alpha-1 Antitrypsin Deficiency Consortium to advance innovative AATD treatments
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.
Global survey reveals significant burden and inconsistent management of hypophosphataemic osteomalacia in adults
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.
Fondazione Telethon’S Genomic Program end the diagnostic odissey for hundreds of children
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.
Alliance for Clinical Trials in Oncology supports April Head and Neck Awareness Month
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...
CURE SYNGAP1 announces 2026 board of trustees transition
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.
Discovery of Addison's disease gene in dogs could help humans, too
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.
Researchers identify new genetic disease that interferes with brain development
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.
Scientists reverse severe epilepsy in lab mice in promising step toward a cure
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.
Researchers identify blood-based biomarker for cancer risk in people with Lynch Syndrome
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.
Alliance marks Adolescent and Young Adult Cancer Awareness Week
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.
New sensors lower the cost of studying genetic disorders
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.
Survey: Americans strongly support autism research — but most don’t know brain donation is needed to advance it
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.
Gene editing therapy shows success against severe sickle cell disease
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.
Virus-inspired DNA needle could pave the way for better medicines
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.
Precision medicine helps more patients receive a genetic diagnosis
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.
Answering an urgent need
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.
Scientists discover new genetic disease that causes premature aging and cognitive deficits
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.
Medical centers highlight responsible ways to share genetic disease risk information
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.
SynGAP Research Fund (SRF) announces formal transition to CURE SYNGAP1, reinforcing commitment to treatment development
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.
Mitochondria identified as key player in a rare disease causing microcephaly
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.
Active ingredient of Viagra helps treat rare genetic disease
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.
First degree female relatives’ suicidal intentions may influence women’s suicide risk
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.
Alliance for Clinical Trials in Oncology highlights new and open colorectal cancer trials in March
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.
New trial seeks to improve sharing of genetic colorectal cancer risks
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.
Location, location, location: For potassium channels, it depends on functionality
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.
Here we grow: chondrocytes’ behavior reveals novel targets for bone growth disorders
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.
21st century vitamin hunters: A systematic framework for matching nutrients to genetic diseases
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.
Scientists create the most detailed molecular map to date of the developing Down syndrome brain
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.
Engineers sharpen gene-editing tools to target cystic fibrosis
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 of the University of Edinburgh to dissect the molecular functions and regulation of local SYNGAP1 protein synthesis with support from CURE SYNGAP1 (fka SynGAP Research Fund)
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 new SynGAP biomarker study funded by CURE SYNGAP1
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 broken DNA repair tool accelerates aging
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.
Blocking a cancer-related pathway helps reduce spine deformities due to genetic disorder, finds new study
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.
New study explores therapeutic potential of CRISPRCas3 genome-editing system
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.
Changes in genetic structure of yeast lead to disease-causing genomic instabilities
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.
Two wrongs make a right: how two damaging variants can restore health
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.
Finding the genome's blind spot
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.
Childhood deafness: New insights to improve genetic counseling for families
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.
Genes aren’t destiny for inherited blindness, study shows
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.
Changing the paradigm on hypermobile Ehlers-Danlos Syndrome: Connective tissues don’t tell the whole story
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...
How errors in the “cell skeleton” lead to a smaller brain
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.
New study finds cystic fibrosis drug allows patients to safely scale back lung therapies
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...
Anna Gloyn wins 2026 Transatlantic Alliance Award in Endocrinology
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.
All life copies DNA unambiguously into proteins. Archaea may be the exception.
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.
New mutation hotspot discovered in human genome
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.
Scientists uncover how a mitochondrial mutation rewires immune function
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.
New artificial intelligence model could speed rare disease diagnosis
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.
Medical School research laboratory team awarded $11.3M to study innovative tools to treat genetic disorders
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 ...
UC Davis launches major study on language development in children with Down syndrome
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.