Research on inherited diseases and their causes. Covers RNA therapies, hidden diabetes subtypes, pulmonary disease, and prenatal genetic testing.
According to a study published in JAMA, children with trisomy 13 and 18 showed significant improvement in survival rates after undergoing surgical interventions. The study found that one-year survival for these children was around 20-30%, with some even surviving up to 10 years.
Researchers describe expanding scope of gene therapy targeting CNS diseases, including Alzheimer's and ALS. The article highlights rapid progress in viral vector development and delivery strategies for treating these conditions.
Scientists at Stowers Institute for Medical Research discovered a unifying cellular mechanism underlying Treacher Collins syndrome, a rare congenital disorder. Loss-of-function mutations in genes TCOF1, POLR1C, and POLR1D cause the condition, which affects craniofacial development and survival of progenitor neural crest cells.
Scientists discover gene BCL11A responsible for a new intellectual disability syndrome, which affects brain development and function. The study reveals that two healthy copies of the gene are necessary for normal brain cell development.
Researchers suggest combining genetics and cognitive bias studies to better understand mental health, finding that shared genes can make individuals prone to both positivity and negativity.
Researchers identified STN1 gene mutations as the cause of Coats plus syndrome, a telomeropathy that affects multiple tissues. The study found that cells with dysfunctional telomeres and decreased capacity to divide were characteristic of patients with Coats plus syndrome.
Researchers from Scripps Florida have discovered a link between bipolar disorder and the striatum, a brain region involved in motor planning and reward perception. The study identified 14 genes differentially expressed in bipolar patients compared to non-bipolar controls, suggesting a causal role in the disorder.
Researchers at Newcastle University have developed a genetic test to diagnose mitochondrial disorders, identifying six patients from four families affected by the disease. The test, which takes 2-3 days to produce results, has the potential to revolutionize diagnosis and treatment of this debilitating condition.
A study led by Queen Mary University of London suggests that genetic variation in ribosomal DNA could be driving how a mother's diet during pregnancy affects her offspring's weight and attributes. This discovery may shed light on the conundrum of disease inheritance, particularly for conditions like type 2 diabetes.
Labradors with elbow dysplasia showed improved mobility and stride characteristics after hydrotherapy, suggesting its potential as a therapeutic tool. The study also found benefits in healthy control groups, indicating swimming can be beneficial for dogs.
James F. Gusella, a renowned geneticist, will receive the William Allan Award for his substantial and far-reaching scientific contributions to human genetics and neurogenetics research. Dr. Gusella's work has mapped genes associated with neurological conditions such as Huntington disease, ALS, and Alzheimer disease.
Researchers have identified 84 potential inherited gene mutations that may contribute to severe forms of bipolar disorder. The study used advanced genome sequencing techniques to analyze DNA from 36 family members with the disease, finding rare genetic variations that were overrepresented in those with bipolar disorder.
Dr. David Valle will receive the Arno Motulsky-Barton Childs Award for Excellence in Human Genetics Education at ASHG's 66th Annual Meeting. He has made significant contributions to genetics education through various programs and publications, including the Predoctoral Training Program in Human Genetics.
A team of researchers has developed a method to identify different subtypes of neurons in the human brain, revealing unique characteristics that can lead to differences in cellular function. The study provides a unified framework to analyze individual neurons and could help diagnose and treat brain disorders.
Researchers found that about 1 in 400 people have 36 or more repeats of the gene, which could lead to a higher incidence of the disease. People with reduced penetrance may be at relatively low risk but play a larger role in transmitting the full penetrance gene to their children.
Researchers identified a genetic mutation in the ADRA2A gene that causes atypical lipodystrophy, characterized by excessive fat accumulation in the face and neck, but not in limbs. The mutation reduces adrenaline receptor function, leading to loss of lipid breakdown in adipocytes.
Seven pioneers in HIV/AIDS and epigenetics research receive NIDA's Avenir awards to support groundbreaking projects using genome editing, smartphones, and smart health technologies. These early-stage investigators will receive up to $300,000 per year for five years to advance addiction science.
Researchers developed a more effective, comprehensive and cheaper panel of genetic tests to detect bleeding or clotting disorders in patients. The new tests use genome sequencing technology to provide faster diagnoses and improve patient outcomes.
A study by the University of Helsinki reveals three novel canine genes associated with human rare disorders, including Caffey disease and van den Ende-Gupta syndrome. The discovery highlights the potential of comparative research for developing diagnostics and treatments.
Scientists at McGill University have identified novel gene mutations that cause hereditary spastic paraplegia (HSP), a debilitating disease characterized by weakness or spasticity in the lower limbs. The discovery will aid in the development of treatments for HSP, with researchers predicting improved diagnosis and treatment options.
A new mouse model of a genetically-linked type of autism has been developed to study the role of genes in the disorder and its underlying brain changes. The researchers found that targeting a specific brain receptor could ease repetitive behaviors and improve learning in some animals.
Researchers have identified Charcot-Marie-Tooth Disease as Christina Olson's condition, which led to her loss of mobility and hand use. The diagnosis was made by Marc Patterson after reviewing her medical history and Andrew Wyeth's artwork depicting her.
Promising results from clinical trials of globin gene transfer have eliminated the need for blood transfusions in some individuals with beta-thalassemias. Gene editing technologies hold promise to correct beta-globin deficiencies and reactivate fetal hemoglobin production, potentially leading to a cure for severe globin disorders.
Researchers at UT Southwestern Medical Center discovered that Fanconi anemia genes play a crucial role in selective autophagy, particularly in removing damaged mitochondria. This finding has implications for treating Fanconi anemia and certain cancers, including familial breast and ovarian cancer.
Researchers at the Universities of York and Leiden have created fluorescent chemical probes to measure acid alpha-glucosidase enzyme levels in human cells. This technology enables rapid detection of enzyme deficiencies, informing more effective treatments for Pompe disease and potentially other inherited conditions.
A new study shows that current carrier screening methods are insufficient and can give prospective mothers a false sense of security. Whole genome studies are needed to ensure both mates don't carry recessive mutations in the same gene(s). DNA-based screening can detect many more disease-causing genetic variations
Researchers at UMass Medical School identified a molecular pathway critical for maintaining smooth muscle tone, which may lead to new treatments for digestive disorders. The study found that genetic deletion of a specific enzyme led to loss of basal tone and fecal incontinence in mice.
A study published in the American Journal of Human Genetics reveals that PIGG gene mutations are the cause of intellectual disability with seizures and hypotonia. The discovery offers new insights into the development of cerebral nervous systems and provides a potential diagnostic tool for families affected by these disorders.
A new study by Binghamton University provides a unifying model for genetic disorders, revealing how subtle mutations of the LMNA gene disrupt cell commitment processes. This leads to confusion among cells, causing different organs to malfunction, resulting in various conditions like heart problems and premature aging.
A team of researchers from Massachusetts General Hospital has identified key biological processes involved in autism spectrum disorders (ASDs), including the overlap of two major signaling pathways. The study highlights the importance of understanding how these pathways interact to develop more effective treatments.
A state-of-the-art molecular genetic test, exome sequencing, has been found to greatly improve the diagnosis of neurogenetic disorders in children and adults. The test can identify disorders that may have gone undiagnosed for years with greater speed and accuracy.
Researchers have developed a new technology to examine gene expression in single cells, shedding light on the molecular causes of rare diseases. The study found highly variable and different gene expression patterns in single cells, even in the same organ.
Researchers discovered a new genetic cause of CMT1, a type of inherited neuropathy, linked to mutations in the peripheral myelin protein 2 gene (PMP2). The study found that 49 mutations in PMP2 could be responsible for the disease, leading to weakness and numbness in hands and feet.
Researchers at the University of Geneva identified a new recessive disease caused by the failure of a single gene, PIGG, which affects protein production and leads to intellectual disability, epilepsy and hypotonia. The discovery provides hope for early detection and prevention through personalized genetic diagnosis.
Researchers discovered a new class of common variable immunodeficiency disorder (CVID) caused by IKAROS gene mutations, enabling definitive genetic diagnosis and potential personalized treatment. The study found six unrelated families sharing similar symptoms and changes in the same gene, highlighting the need for early intervention.
Researchers develop mouse model of Jacobsen syndrome, a rare inherited disease that affects social behavior and brain function. The study finds that the anti-anxiety drug clonazepam reduces autistic features in mice, suggesting potential for new therapies.
A new Scripps Research Institute study has identified specific genetic variations associated with increased susceptibility to bipolar disorder and other conditions. The research focuses on a gene called PDE10A, which produces proteins that regulate intracellular levels of cAMP, influencing biological processes like learning and memory.
Researchers found that deleting the huntingtin gene in adult mice does not lead to lethal consequences, offering hope for treatment strategies involving gene silencing. The study suggests that gene suppression or editing strategies may be safe for adults, but further research is needed to understand the long-term effects.
Patients with rare disorders are sharing health information through the MyGene2 web tool, which helps researchers and clinicians identify genetic causes. The tool improves diagnosis and treatment options by connecting patients with similar profiles and providing a platform for data analysis.
Gene therapy has made significant progress in treating X-linked severe combined immunodeficiency (SCID-X1), with hematopoietic stem cells showing promise for a cure. However, ongoing challenges include improving safety and achieving long-term immune reconstitution, highlighting the need for continued research and development.
Researchers discovered that Kurly protein is required for proper cilia movement and orientation, crucial for fluid flow and organ development. The study highlights the importance of Kurly in understanding human diseases such as polycystic kidney disease and left-right patterning disorders.
Researchers identified 27 genes in brain stem cells prone to DNA damage, which could promote disease but also benefit brain diversity. The fragility of these genes may lead to mutations or deletions in cancers and neuropsychiatric disorders.
Researchers from Kumamoto University have identified the protein p53, which plays a crucial role in slowing down the progression of Alport syndrome. The study suggests that recovering the function of the p53 gene could help inhibit symptom progression and develop new treatment strategies for genetic diseases.
Researchers have discovered a molecular link between psychiatric disorders and type 2 diabetes, with the DISC1 gene playing a critical role in pancreatic beta cell function. The study found that disrupting the DISC1 gene led to increased beta cell death, impaired glucose regulation, and reduced insulin secretion.
The LouLou Foundation and Penn Medicine's Orphan Disease Center have established a Program of Excellence to tackle the severe neurodevelopmental impairment and seizures caused by CDKL5. The program aims to develop effective treatments through collaboration with academic labs, companies, and biopharma industry.
Researchers discovered that gene versions of C4 trigger runaway synaptic pruning during adolescence, leading to fewer brain connections and higher risk of developing schizophrenia. This finding offers a new potential target for interventions and treatments.
The University of Exeter Medical School has received a £1 million donation from the Dennis and Mireille Gillings Foundation to expand its research on genetic disorders. The gift will support new staff and fund innovative diagnostic testing, improving patient care in the NHS.
A gene linked to mental disorders helps lay the foundation for a crucial brain structure during prenatal development. Mutations in this gene can lead to severe depletion of neurons in the cortex, compromising its ability to communicate with other brain areas.
A study found that most patients with genetic variations linked to cardiac disorders did not show symptoms or signs of the conditions. The researchers suggest that some variants may have low penetrance or cause subclinical disease, raising questions about the validity of returning incidental genetic findings to patients.
Researchers have developed a CRISPR-Cas9 gene editing system to treat Duchenne muscular dystrophy (DMD), a debilitating genetic disease. By deleting exon 23 and restoring dystrophin protein levels, the therapy improved muscle function in mice with DMD, including cardiac and pulmonary health.
Researchers discovered brief opportunities for recovery from chronic stress by altering gene expression, enabling neural circuitry changes. The brain retains the ability to change and adapt, even under repeated stress.
A recent study has identified the Shank3 gene as a key contributor to both autism and schizophrenia. The researchers found that two different mutations of the gene produce distinct molecular and behavioral effects in mice, shedding light on how a single gene can play a role in multiple diseases.
Researchers at Boston University School of Medicine have identified a gene, Hnrnph1, that is casually associated with the behavioral response to methamphetamine. This finding may have implications for understanding the genetic basis of methamphetamine addiction and developing novel therapeutics.
A recent study found that delay discounting, the tendency to choose smaller rewards now rather than larger ones later, is strongly influenced by genetics. As individuals age, their ability to wait for larger delayed rewards improves. The study suggests that genes related to serotonin synthesis and binding may play a role in impulsivity.
Researchers at University of California, San Diego School of Medicine have discovered that the existing compound KD3010 offers hope for slowing Huntington's disease and its symptoms. The study found that KD3010 improved motor function, reduced neurodegeneration, and increased survival in a mouse model of HD.
A new study has identified numerous genetic mutations associated with both congenital heart disease and neurodevelopmental disorders. The analysis revealed a high burden of damaging de novo mutations in genes highly expressed during heart development, suggesting a link between heart and brain development.
Researchers identified genetic risk factors for a deadly hyperinflammatory disorder triggered by viral infections in susceptible individuals. The study found that people with certain gene mutations may be prone to the disorder, known as reactive HLH or hemophagocytic lymphohistiocytosis.
A new study by Berkeley Lab researchers has identified genetic factors that influence motor performance and body weight in a genetically diverse group of mice. The findings show significant overlaps with genes related to neurological disorders and obesity in humans, providing a new framework for studying these connections.
A new study has identified four previously uncharacterized genetic disorders in children, using a computational approach to analyze DNA samples from over 4,000 families across the UK and Republic of Ireland. The researchers compared these samples with data from millions of people who have agreed to share their genetic information.
A University of Chicago team aims to establish a new system of diagnosis for psychotic diseases using biomarkers, which may guide the development of novel therapies. The Bipolar-Schizophrenia Network on Intermediate Phenotypes will recruit additional study participants over five years.