Articles tagged with Genetic Disorders
Dr. Michael J. Welsh has advanced understanding and treatment of cystic fibrosis through his pioneering research on chloride channels and CFTR function. He has developed new therapies, including a porcine model of CF, leading to improved treatments for 90% of people with the disease.
Researchers from Weizmann Institute of Science and Sheba Medical Center identified two drugs with the potential to treat KLA, a rare genetic disorder affecting the lymphatic system. The study used transparent zebrafish embryos to decipher the disease mechanism and find effective treatments.
Researchers at Northwestern University have developed a new CRISPR delivery system that triples efficiency using DNA-wrapped nanoparticles, improving safety and effectiveness. The new system, called LNP-SNAs, targets specific cells and tissues, reducing toxicity and boosting gene-editing efficiency by threefold.
Scientists at the University of Alabama at Birmingham created novel mouse models with mutations in the DHDDS gene to study retinitis pigmentosa (RP) 59, a genetic cause of blindness. The studies revealed that both T206A/K42E and K42E/K42E mouse models exhibited changes in retinal structure and function similar to human RP59 disease.
Researchers mapped the surface envelope glycoprotein of human endogenous retroviruses, opening doors to new diagnostic and therapeutic opportunities. The study revealed specific antibodies that target the viral proteins, potentially leading to new cancer immunotherapies and treatments for autoimmune diseases.
CURE GABA-A and Grann Pharmaceuticals partner to advance mRNA lipid nanoparticle therapies for Rett Syndrome and other rare neurodevelopmental disorders caused by GABAAR variants. The partnership aims to accelerate clinical trials and deliver transformative therapies to families affected by these conditions.
Researchers identified three distinct molecular subtypes of follicular lymphoma, offering insights into personalized treatment plans. The subtypes C1, C2, and C3 differ in their genetic profiles and tumor microenvironments, guiding the use of specific therapies.
A UMass Amherst kinesiologist has received a $2 million NIH grant to study how myosin molecules work together to drive different processes within cells. His research aims to develop drugs for heart failure, neurological conditions and genetic forms of deafness.
Researchers at the University of Waterloo have developed a novel method using modified M13 bacteria to deliver targeted gene therapies for genetic disorders. This approach shows promise as a cost-effective alternative to current methods, which can be expensive and trigger toxic side effects.
Researchers from the University of Pennsylvania School of Veterinary Medicine and Children's Hospital of Philadelphia discovered a link between mitochondrial dysfunction in the blood-brain barrier and neuropsychiatric disease in patients with 22qDS. Treatment with bezafibrate, a cholesterol drug, may enhance BBB function and correct so...
A three-year-old girl has been successfully treated with the first-ever FDA-approved gene therapy treatment for AADC deficiency, a rare inherited neurological disorder. The treatment, Kebilidi, is expected to take 2-6 months to show measurable impact and has already shown signs of increased energy and happiness.
A Phase I/II clinical trial found that gene therapy reduced seizures, improved oral feeding, and increased production of the HexA enzyme. Participants experienced fewer and more controllable seizures, and some remained on full oral feeds for up to 27 months.
A study found that expectant mothers are often left to navigate decisions on prenatal screening for Down syndrome without sufficient information or emotional support. The research highlights the need for a national pathway to support families and provide clear information about screenings.
A research team developed a new method to precisely edit DNA by combining genetic engineering with artificial intelligence. The technique enables accurate modeling of human diseases and lays the groundwork for next-generation gene therapies.
Researchers from CHOP and Clinic for Special Children discovered a genetic disorder affecting the immune system is prevalent in the Old Order Amish community. The study found that complement factor I deficiency, an ultra-rare genetic disorder causing debilitating neuroinflammation, is more common in individuals of Old Order Amish ances...
Researchers have developed a groundbreaking method to observe lysosomes in live suspended cells—quantitatively, in 3D, and without the use of chemical labels. The technology uses holographic tomography in flow cytometry configuration (HTFC) to identify morphological and spatial lysosomal changes in models of lysosomal storage diseases.
Researchers at Salk Institute launched a machine learning framework called ShortStop to explore overlooked DNA regions and discover microproteins with potential roles in disease. The tool identified 210 new microprotein candidates in lung cancer data, including one validated target for therapeutic treatment.
A $5.5 million federal grant will support clinical trials to treat fragile X-associated tremor/ataxia syndrome (FXTAS). The project aims to develop accurate outcome measures for future trials, ensuring patients and caregivers have a say in what matters most.
The American Society of Human Genetics recognizes Dr. Harry Dietz for his work on Marfan Syndrome, Dr. Eric Green for his leadership in advancing human genetics and genomics, Dr. Mike Talkowski for his pioneering contributions to cytogenetics and genomic medicine, and Dr. Elizabeth Bhoj for her extensive work in translational genetics.
A new genetic study has identified genes involved in neuronal signalling and sensory pathways as key drivers of chronic cough. The findings advance our understanding of cough reflex hypersensitivity as a nervous system-mediated process, opening up opportunities for targeted treatments.
Researchers at UC Davis Health developed a promising gene therapy that could treat Rett syndrome by reactivating healthy but silent genes responsible for this rare disorder. The therapy showed impressive results in female mouse models of Rett syndrome, with treated mice living longer and showing better movement and cognition.
The 2025 Critical Path Institute Global Impact Conference will bring together industry, regulatory agencies, academia, and patient advocacy groups to discuss pressing challenges in drug development. The event aims to foster cross-sector collaboration to advance medical innovation and improve treatment outcomes for patients.
Researchers at UC Davis MIND Institute recommend testing for specific groups, citing inadequate recognition by healthcare providers. The group of genetic conditions affects learning, development, and behavior, with millions of people unaware they carry the premutation.
Researchers developed a potential strategy to treat neurobehavioral challenges in NF1, a genetic disease affecting the skin and nervous system. The findings may also apply to hundreds of other rare genetic diseases, including autism spectrum disorder and ADHD.
A study of 365 adults found nearly one in four had a genetic condition causing their ICU admission, which was unknown to nearly half of those patients and their doctors. The researchers recommend offering genetic testing to all adults admitted to the ICU to improve care and reduce health disparities.
A pilot clinical trial has been initiated to test the efficacy of alpelisib in treating Dent disease 2, a rare genetic disorder affecting kidney function. The trial aims to improve abnormal kidney function and potentially provide a breakthrough treatment for patients with life-threatening complications.
The Center will develop personalized CRISPR on-demand treatments for children with severe inborn errors of immunity and metabolic disease. The initiative aims to make CRISPR cures more affordable and accessible, building on recent clinical success in treating ultra-rare genetic diseases.
Biomolecular condensates play a critical role in organizing and regulating proteins within the postsynaptic density of neurons. Prof. Strømgaard's research aims to develop condensate-modifying compounds that restore normal function in SYNGAP1-related disorders, offering new avenues for therapeutic interventions.
Researchers have identified a key protein associated with Meckel-Gruber syndrome that is cut in half to perform two separate functions, both fundamental to healthy cilia development. The findings shed new light on how cilia formation and cell signaling are finetuned by external forces.
A new gene therapy delivery device called NANOSPRESSO could revolutionize how hospitals treat rare diseases by allowing them to create personalized nanomedicines in-house. This democratized approach to precision medicine could boost access to low-cost bespoke gene and RNA therapies, especially in low-resource settings.
A comprehensive analysis of 2,762 Indian genomes reveals a complex history of genetic mixing, endogamy, and population bottlenecks that shaped the country's genetic variation, health, and disease. The study found that most genetic variation in India can be explained by a single migration out of Africa about 50,000 years ago.
A new approach enables hospital pharmacists to rapidly create bespoke medicine cartridges for rare disease patients, boosting access to personalized treatment. The NANOSPRESSO platform could open up treatments for underfunded and underserved rare conditions worldwide.
A new study involving 121 former elite rowers from Australia found that one in five develops atrial fibrillation, a condition that can lead to stroke and heart failure. The researchers identified genetic and clinical tools that enable early preventive strategies, highlighting the paradox that AFib is more common among fit athletes.
A phase 3 trial demonstrated the efficacy of selumetinib in reducing tumor size and alleviating pain in adults with neurofibromatosis type 1. The treatment was found to be effective in patients who received it from day one, as well as those who started it later, with significant reductions in tumor size and pain reported.
Researchers have identified a previously unknown organelle called the hemifusome that plays a crucial role in cellular sorting and recycling. This discovery could lead to targeted treatments for complex genetic disorders like Hermansky-Pudlak syndrome, which affects multiple systems in the body.
The 2025 NF Conference brings together researchers, patients, and advocates to discuss progress and future prospects in NF treatment and discovery. The event features keynotes on gene therapy, regulatory reform, and next-generation pain treatments.
DEBRA Research invites academic researchers to submit proposals for Basic Science and Research Grants to improve quality of life for those with inherited Epidermolysis bullosa. The organization focuses on translational research and clinical development to address the unmet needs of people living with EB.
The National Urea Cycle Disorders Foundation is establishing a multistakeholder Partner Network to guide health care decisions and build a sustainable infrastructure for UCD research. The project aims to empower the broad UCD community to work together effectively, identify research needs, and create a roadmap for future studies.
Researchers developed a new computational tool using generative AI to identify key gene combinations underlying complex illnesses. The method amplifies limited gene expression data, enabling researchers to resolve patterns of gene activity that cause complex traits.
Researchers created a zebrafish model of XMEA, an ultra-rare genetic disease that progressively weakens muscles. The study found that two compounds improved symptoms in the zebrafish, and autophagy antagonists showed promise for treating the disease.
Researchers have discovered that nicotinamide riboside supplementation significantly improves NAD+ levels, reducing arterial stiffness, skin ulcer area, and kidney dysfunction. This breakthrough offers new hope for patients with Werner syndrome who lack effective treatment options.
A new study published by Martin-Luther-Universität Halle-Wittenberg found that theophylline significantly improved symptoms and quality of life for patients with ADCY5-related dyskinesia. The treatment yielded impressive results, including reduced muscle twitches, improved gait, and better psychosocial well-being.
Researchers have discovered a crucial molecular basis for aortic dissection by linking endothelial dysfunction with immune infiltration. The study reveals that abnormalities in vascular endothelial cells facilitate the accumulation of inflammatory cells, leading to fatal rupture.
A new AI tool developed by University of Missouri researchers can predict the 3D shape of chromosomes inside individual cells, providing a new view of how genes work. The tool helps identify unique differences in chromosome folding between cells, which controls gene activity and can lead to diseases like cancer.
Salk Institute and UC San Diego researchers captured the first-of-its-kind video of dynein-Lis1 protein interaction, revealing 16 detailed shapes that support designing therapeutics to restore dynein and Lis1 function. The insights gained from this movie will help identify precise locations where drugs can interact with the proteins.
A recent epigenetic study identified RABGGTB as a promising biomarker for autism spectrum disorder, revealing extensive DNA methylation abnormalities in key brain regions. The findings suggest that studying this gene could unlock new doors to understanding ASD and lead to future diagnostic breakthroughs.
Researchers have synthesized cutting-edge findings on Prader-Willi syndrome, revealing its unique link to autism spectrum disorder and psychotic spectrum disorders. The condition's distinct genetic subtypes correlate with specific psychiatric outcomes, offering critical insights into the interplay between genetics and psychiatric vulne...
A novel study analyzing the cost-effectiveness of different Down syndrome screening strategies confirms that non-invasive prenatal testing (NIPT) significantly outperforms second-trimester serum screening (STSS). NIPT identifies twice as many DS cases as STSS, offering a more reliable option with lower incremental costs.
A team of researchers has successfully treated an infant with a life-threatening, incurable genetic disease using personalized gene editing therapy. The infant, who was diagnosed shortly after birth, showed positive responses to the treatment and improved symptoms over time.
A UC San Francisco-led study found that delivering medicine for spinal muscular atrophy (SMA) via the amniotic fluid was safe and helped prevent damage to nerve cells. The therapy used molecules called antisense oligonucleotides (ASOs), which can alter gene expression, and was tested in mice and sheep with promising results.
Researchers have identified a new gene, FANCX, associated with an aggressive form of Fanconi anemia. Mutations in this gene lead to severe forms of the disease, including miscarriages and early death. The discovery could help identify carriers who can prevent Fanconi anemia in future pregnancies through IVF screening.
Researchers identified unique biological mechanisms that cause premature aging in the brains of individuals with alcohol, opioid, and stimulant use disorders. Different substances appear to hijack the brain's natural aging rhythm through distinct molecular mechanisms, though some pathways are shared across different substance types.
A new study reports on five patients with Canavan disease who have a novel variant identified through targeted long-read sequencing, revealing an SVA_E retrotransposable element that disrupts gene function. The findings enhance genetic diagnostics and enable improved guidance for families.
Researchers analyzed DNA from four generations of a large family to understand genetic mutations and their transmission. They found that the rate of de novo mutations varied by over twenty-fold depending on genome location.
A pioneering Israeli study identifies TRIM63 as a significant genetic contributor to hypertrophic cardiomyopathy (HCM), which could transform genetic screening and treatment protocols. The findings provide compelling evidence for the gene’s role in both causing and increasing susceptibility to HCM.
A team of researchers has developed a comprehensive atlas of genetic change through generations, revealing that parts of the human genome change much faster than previously known. This discovery has significant implications for understanding human disease and evolution, including the roots of genetic diseases.
Researchers at the University of Groningen discovered that mefloquine can enhance the effect of aminoglycosides to override faulty stop signals in proteins. This could lead to the development of new drugs tackling genetic diseases.
Common prescription medications can disrupt sterol biosynthesis, potentially causing developmental disorders. The editorial highlights the need for mandatory sterol biosynthesis screening in clinical practice.
A recent study by the University of Zurich examined the connection between retinal nerve connections and schizophrenia. The researchers found that individuals with a higher genetic risk for schizophrenia tend to have thinner retinas, which can be detected using non-invasive retinal measurements.
The SynGAP Research Fund has announced the appointment of four new members to its Board of Trustees, bringing diverse expertise to the organization's mission. Jaime Aranda, Steve Gore, Heather Mestemaker, and Brian Smith will succeed outgoing Trustees, driving the development of therapies and enhancing SYNGAP1 quality of life.