Articles tagged with Genetic Disorders
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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.
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 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.
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 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.
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 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.
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.
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.
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 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 ...
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.
Dr. Xin Jin has been recognized for her groundbreaking work on genetic mechanisms of neurodevelopmental disorders, developing new technologies to accelerate the understanding of gene mutations in the brain. Her research aims to uncover fundamental principles of genome function and its impact on neural systems.
Dr. Bruce D. Gelb, a pioneering pediatric cardiologist and geneticist, is honored with the 2026 APS John Howland Award for his groundbreaking research on congenital heart disease and developmental disorders. His work has profoundly shaped our understanding of these conditions and elevated the field of pediatric medicine.
Hereditary spastic paraplegias are a diverse group of over 80 neurodegenerative disorders with limited therapeutic options. Boston Children's Hospital is expanding its research efforts to promote clinical trial readiness for these disorders, thanks to an $8.1M NIH grant.
International experts have established guidelines for gene therapy in hereditary hearing loss, emphasizing patient-centered care and respect for diversity. The guidelines outline frameworks for clinical trials, including patient selection criteria, surgical procedures, and safety evaluations.
Researchers used CRISPR technology to identify HMGN1, a nuclear binding protein that contributes to trisomy 21-related CHDs. The study found that an overabundance of HMGN1 leads to abnormal heart development and gene expression.
The US needs a new strategy for insurance coverage and access to cell and gene therapies due to high up-front costs. In contrast, Europe has approved 19 CGTs with most being reimbursed within two years of approval based on demonstrated added therapeutic value.
Researchers identified key genes connected to cellular lipid metabolism that guide the precise release of cytotoxic granules in human NK and T cells. This discovery explains how immune cells work and sheds light on diseases caused by genetic defects.
Scientists found a promising candidate, pleiotrophin, which is essential for brain development and function; restoring it may improve brain circuits in individuals with Down syndrome and other neurological diseases. The study's findings suggest using modified viruses to deliver the protein directly into cells could lead to new treatments.
The European Society of Endocrinology has released the EndoCompass Research Roadmap, a major new initiative to align research efforts and improve funding strategies for hormone-related health challenges. The roadmap identifies specific research needs across eight endocrine specialties and five cross-cutting areas.
A research team has discovered a previously unknown genetic cause of hereditary optic atrophy, a degenerative disease of the optic nerve associated with gradual loss of vision. A genetic variant in the PPIB gene was found to impair mitochondrial function, detectable in most known forms of hereditary optic atrophy.
Researchers have identified a 'longevity gene' from supercentenarians that can slow down heart aging in a progeria model. The gene helps keep the heart and blood vessels healthy during aging, reducing signs of aging and fibrosis in Progeria patients.
A new method has created reliable growth charts for six rare genetic conditions using data from almost 600 children worldwide. The LMSz method provides condition-specific charts that can help healthcare professionals make informed decisions and give families a clearer picture of their child's growth, supporting better medical care.
A recent study found that a person's genetic background, rather than a single gene, plays a key role in the development of complex disorders. The research revealed patterns of secondary variants that can modify the impact of primary genetic variants on clinical outcomes.
Researchers found that over 30% of children referred for Alport syndrome testing at age 3 already required therapeutic intervention, highlighting the potential benefits of early detection. The study suggests introducing a urine testing system may enable intervention before kidney dysfunction onset.
The CityUHK team is developing two core therapeutic medicines using state-of-the-art DNA surgery technology to treat liver and cardiovascular genetic diseases. Their approach offers a durable and long-lasting solution, eliminating the need for repeated medications.
A new study found that around one in seven Black and one in 63 South Asian men in the UK carry a genetic variant known as G6PD deficiency, which can cause delays in type 2 diabetes diagnosis. Men with this deficiency are diagnosed four years later than those without it.
Researchers at Stowers Institute for Medical Research have identified the precise location where human chromosomes break and recombine to form Robertsonian chromosomes. The study reveals that repetitive DNA sequences play a central role in genome organization and evolution, explaining how these rearrangements form and remain stable.
A multidisciplinary panel published in the Journal of Pediatrics advocates for accelerated diagnosis of familial hypercholesterolemia, a life-threatening genetic condition. Universal lipid screening is recommended to identify affected children at high risk of heart disease decades earlier than those without the condition.
Adults with both conditions are just as likely to work, volunteer, and experience quality of life as those with Down Syndrome alone. They reported higher rates of employment and volunteer participation despite having more neurologic problems.
A $8.6 million NIH grant has renewed funding for the Rare Disease Clinical Research Network project, focusing on cognition, communication, and neuropsychiatric symptoms in individuals with rare diseases. The initiative aims to develop biomarkers, support pilot projects, and foster skilled investigators.
Researchers have introduced a novel gene therapy method to treat impairments in hearing and balance caused by inner ear dysfunction. The treatment, utilizing an advanced AAV vector, prevents hair cell degeneration and preserves normal hearing and balance.
Researchers Kevin Campbell, Louis Kunkel, and Eric Olson are honored for their discoveries revealing the biological causes of Duchenne muscular dystrophy, providing a foundation for new treatments. Their work has advanced scientific understanding and brings hope to families affected by this devastating disease.
Researchers have identified a new therapeutic target, ABHD18, which can restore mitochondrial health and improve heart function in preclinical models of Barth syndrome. By blocking this gene, the body can bypass the problem caused by the faulty TAFAZZIN gene, offering a potential path to targeted therapies.
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.
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 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 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...
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.
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.