Articles tagged with Genetic Disorders
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.
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...
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 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 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 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 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.
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.
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.
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.
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.
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 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.
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.
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.
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.
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 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.
Common prescription medications can disrupt sterol biosynthesis, potentially causing developmental disorders. The editorial highlights the need for mandatory sterol biosynthesis screening in clinical practice.
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.
Researchers at Mount Sinai School of Medicine have identified a new genetic cause of neurodevelopmental disorders (NDDs), including mutations in the previously overlooked non-coding gene RNU2-2. The discovery offers hope to potentially thousands of families worldwide, providing closure and support for those affected by these conditions.
A national study in Australia aims to understand the genetic cause of rare diseases, improving diagnoses and treatment options for those affected. The study is recruiting Australians with a known or suspected rare genetic disease to gather information and connect them with future research opportunities.
Researchers at Karolinska Institutet have developed a method to track the development of cells in the nervous system and inner ear. The technique, known as ectoderm barcoding, reveals that cells in the inner ear develop from two main types of stem cells.
A clinical study confirms that early treatment with fosdenopterin/rcPMP significantly reduces the risk of early death and promotes healthy brain development in infants with MoCD type A. The therapy restores the missing molybdenum cofactor, leading to improved developmental milestones.
A new gene therapy developed by researchers from Juntendo University uses AAV to deliver genome editing tools to inner ear cells, repairing a dominant-negative mutation that causes syndromic hearing loss. The approach has shown high efficiency and specificity in treating hereditary hearing loss.
Dr. Vikaas Sohal's research focuses on cognitive flexibility and prefrontal gamma oscillations to improve cognitive function in individuals with SYNGAP1-related disorders. The grant aims to confirm findings in Syngap1 mutant mice and explore new therapeutic strategies.
Scientists at deCODE genetics identified associations between rare loss-of-function variants in HECTD2 and AKAP11 genes and the risk of bipolar disorder. The study suggests that these gene products may be promising targets for new treatments, as they interact with key cellular pathways involved in the disorder.
Researchers have developed a way to activate adult stem cells from human bone marrow, enabling their expansion outside the body for use in bone marrow regeneration. The new method significantly improves transplant success rates for patients with genetic disorders or those who require a bone marrow transplant.
Scientists at Johns Hopkins Medicine discovered how bacteria protect themselves from certain phage invaders by seizing genetic material from weakened, dormant phages and forming a biological 'memory' that their offspring inherit. This process allows the bacteria to recognize and fight off similar viruses in the future.
Research reveals that placental DNA methylation influences expression of genes associated with psychiatric disorders, suggesting genetic risk manifests during prenatal stage. The study identifies schizophrenia, bipolar disorder, and major depression disorder as most strongly linked conditions.