Research on inherited diseases and their causes. Covers RNA therapies, hidden diabetes subtypes, pulmonary disease, and prenatal genetic testing.
Researchers from Sechenov University found that the absence of cadherin 13 protein affects mice's response to early stress differently than its activation. This discovery sheds light on the genetic basis of neuropsychiatric disorders.
A study published in Nature Neuroscience found that mice with a SETD5 mutation have brains less flexible, leading to difficulties in forming new memories and adapting to situations. The researchers also discovered that the gene cooperates with other proteins to regulate gene expression during learning and memory formation.
A new computer tool has been developed to identify patients with chronic pulmonary embolism (PE) who can be safely treated at home. The tool uses a sensitive cardiac injury marker, troponin, to measure the severity of PE and predict patient outcomes.
A study has discovered that only a small fraction of rare, undiagnosed developmental disorders in the British Isles are caused by recessive genes. The researchers found that five percent of patients had inherited disease-causing gene mutations from both parents, far fewer than previously thought.
Researchers developed a new marker that can accurately detect cardiac injury, reducing the need for costly and invasive stress tests. The test uses high-sensitivity cardiac troponin I (hs-cTnI) assays to measure troponin concentrations lower than conventional assays.
Children's hospitals will use electronic health records and DNA samples to identify genetic markers for severe pediatric growth disorders, enabling early diagnosis and targeted treatments.
A new study found that athletes with a specific gene variant associated with dyslexia were less likely to suffer concussion injuries. The study suggests that the more diffuse wiring of the dyslexic brain may provide neuroprotection against impact injuries.
Researchers have found associations between addiction-related phenotypes and variants in the PTPRD gene, a neuronal cell adhesion molecule. A chemical compound, 7-BIA, has been shown to selectively inhibit phosphatase activity of PTPRD in mice, reducing cocaine self-administration rates.
Researchers have found that a rare gene mutation alters brain development in mice, impairing memory and disrupting communication between nerve cells. Transplanting specific types of nerve cells into the brain improved memory problems in affected mice.
Researchers have identified 102 genes associated with autism spectrum disorder (ASD) through the largest genetic sequencing study to date. This study distinguishes between ASD and intellectual disability, providing valuable insights into the genetics of ASD.
Researchers at Boston Children's Hospital have developed a new method to create customized mouse models for studying the brain. This technique involves using a natural toxin to kill off developing brain cells, allowing scientists to reconstitute the forebrain from genetically engineered stem cells. The resulting mice have tightly contr...
A ground-breaking UK Biobank paper describes the release of whole genome genetic data from 500,000 participants. This will enable researchers to understand the underlying genetics of disease and interactions between genetic and lifestyle factors.
Researchers at ETH Zurich successfully heal genetic disease phenylketonuria in mice using a modified CRISPR/Cas9 system. The technique achieved a high correction rate of up to 60% and restored normal levels of phenylalanine, eliminating the disorder's symptoms.
A new study has found evidence that links dynamin-binding protein (DNMBP) to congenital bilateral cataracts and severe vision loss in infants and children. The researchers discovered mutations in the DNMBP gene on chromosome 10, indicating a recessive disorder common in inbred populations.
A new model is proposed to generate ongoing automated updates for genetic test results, allowing clinicians to better communicate relevant information to patients. This could enable personalized medicine by providing continuous interaction between clinics and labs, reanalysis of changing data, and more accurate diagnoses.
A study published in PNAS has reversed symptoms of Smith-Magenis syndrome in mice by reactivating the RAI1 gene. This breakthrough may lead to new treatments for this neurodevelopmental disorder. Researchers used optogenetic stimulation to restore social interaction deficits, providing hope for improved patient outcomes.
Researchers have discovered new genetic mutations associated with Tourette Disorder, which may disrupt cell polarity and lead to chronic vocal and motor tics. The study's findings provide a deeper understanding of the condition and offer potential insights for developing improved treatments.
Researchers identified a rare genetic disorder in a human patient caused by mutations in the ornithine decarboxylase 1 (ODC1) gene. The disorder is characterized by large birth weight, hair loss, and developmental delays, and may be treatable with the FDA-approved drug DFMO.
Researchers have identified a genetic predisposition to early-onset atrial fibrillation in black and Latino populations. A large registry of patients found that there is a significant family history of AFib in these groups, particularly among younger patients.
A new study finds that individuals with a disease-associated mutation can have vastly different symptoms due to the total amount of rare mutations in their genome. The researchers discovered a correlation between the number of mutations and cognitive development, IQ scores, and head size.
Researchers have successfully tested a medicine that can treat hereditary angioedema by inhibiting the kallikrein enzyme, preventing severe swelling. The daily administration of the drug has been shown to prevent symptoms from developing, offering a new hope for patients suffering from this rare genetic disease.
The study will recruit 400 newborns with a wide variety of possible genetic disorders, comparing whole genome sequencing to targeted genomic sequencing for accuracy and effectiveness. The researchers aim to determine if the targeted panel can be safely integrated into newborn care, eliminating ethical dilemmas and saving healthcare costs.
Researchers discover that autistic disorders are caused by poor maturation of synapses in the reward system, leading to impaired social communication. This finding has significant implications for understanding and treating autism spectrum disorders.
A new study published in Molecular Genetics and Metabolism identified the drug nitisinone as a treatment for alkaptonuria, also known as black bone disease. The treatment significantly reduces the accumulation of homogentisic acid, stopping disease progression and partially reversing ochronosis.
Chinese researchers have improved the adenine base editing (ABE) system to generate mouse or rat models for human genetic disorders, such as DMD and Pompe disease. The ABE system allows for efficient alteration of genetic codes with minimal undesired outcomes, making it a promising technology for therapeutic applications.
A study by St. Jude Children's Research Hospital and UCSF identified germline mutations in the genes SAMD9 or SAMD9L as responsible for a rare bone marrow disorder, myelodysplasia and leukemia syndrome with monosomy 7. The research found that some children with these mutations can spontaneously recover normal bone marrow function witho...
A new genetic link has been found between the gene IRF2BPL and a previously undiagnosed neurological disorder characterized by progressive neurodevelopmental regression. Mutations in IRF2BPL were identified in seven individuals, including five with severe symptoms and two with milder characteristics.
Researchers have made significant breakthroughs in treating hereditary angioedema with the new drug BCX7353. The medication has been shown to significantly reduce attack frequency and improve quality of life by up to 75% compared to placebo, offering a convenient oral administration without severe side effects.
Researchers have discovered a second-generation drug that can silence the gene responsible for inherited ALS by injecting it into rodents. The new version of the drug is more effective at reducing SOD1 protein production and delaying disease progression. It may be ready for early-stage clinical trials.
Researchers at George Washington University are investigating the CC2D1A gene's role in making males more susceptible to autism than females. The study aims to identify molecular mechanisms underlying this disparity and potentially develop sex-specific therapies.
Professor Stephen Robertson's research team identified the cause of Recessive Spondylocarpotarsal Synostosis Syndrome, a condition resulting in bone fusion. Genome sequencing revealed multiple genes implicated in the disorder, offering diagnostic and therapeutic options.
A study on Rett syndrome found that small molecule inhibitors reactivated the inactive X-linked MECP2 gene, rectifying morphological defects in human induced pluripotent stem cell-derived neurons. The treatment has potential therapeutic applications for the neurodevelopmental disorder.
A new gene-editing technology has been discovered by City of Hope scientist Saswati Chatterjee, which can efficiently correct genetic defects in human blood cells. The platform uses adeno-associated viruses to deliver corrective DNA sequences, offering a promising approach for treating diseases such as sickle cell disease and hemophilia.
Researchers successfully used CRISPR-Cas9 genome editing to restore normal levels of the AAT enzyme in mouse models of alpha-1 antitrypsin deficiency. The approach showed promise for treating patients with this genetic disorder.
Researchers identified four TRAF7 mutations in seven patients with a similar multisystem disorder, associated with developmental delay, congenital heart defects and limb anomalies. The mutations reduced ERK1/2 pathway activity, suggesting a possible genetic link to the condition.
A new study found that psychiatric disorders such as schizophrenia and bipolar disorder have similar genetic patterns, which may not be reflected in current diagnostic categories. The research suggests that a single mechanism regulating concentration could drive both ADHD and schizophrenia.
The study analyzed over 900,000 genomes to identify genetic overlap among psychiatric diseases and personality traits. Schizophrenia was found to correlate with most psychiatric disorders, while anorexia nervosa, obsessive-compulsive disorder, and autism spectrum disorder demonstrated significant overlap.
Researchers found substantial overlaps in genetic risk for psychiatric disorders, including ADHD, bipolar disorder, major depressive disorder, and schizophrenia. In contrast, neurological disorders showed limited evidence of common genetic risk factors, suggesting greater diagnostic specificity.
A study on a Quebec family with an unusual gene has provided novel insight into how the human brain is built. The research found altered connectivity between dopamine-producing cells and their target sites in the brain, which may link to lower impulsivity traits and reduced likelihood of smoking.
The CRISPR Journal announces its third issue with novel techniques for long DNA delivery, correction of recessive genetic defects using endogenous repair, base editing quantification software, leveling the CRISPR playing field through accessible plasmid repositories, and insights into CRISPR's future by Editor-in-Chief Rodolphe Barrangou
Whole genome sequencing (WGS) has the potential to provide early diagnoses for neonates with genetic disorders, leading to changes in medical care and reduced healthcare costs. In a study of over 340 patients, rWGS yielded a diagnosis in 34% of cases, with significant changes in management observed in 67% of those diagnosed.
Researchers at the Francis Crick Institute discovered that a small region of non-coding DNA, enhancer 13, boosts SOX9 protein production to trigger testes development in male mice. This finding could help explain why some humans with XY chromosomes develop female sex organs due to missing genetic material.
A new study identified genetic missense mutations that contribute to disease risk in individuals with autism spectrum disorder (ASD). The framework successfully prioritized these mutations, which are more likely to occur in autistic children than their siblings.
Researchers found that genes associated with schizophrenia alter early brain development indirectly by influencing placenta health, leading to a fivefold increased risk of developing the disorder. The study also discovered a sex bias in schizophrenia incidence, with males more likely to be affected due to the placenta's role.
Researchers have identified a new inherited neurodevelopmental disease caused by a recessive mutation in the CAMK2A gene, leading to slow growth, seizures, and learning difficulties. The disorder is also linked to other neurological conditions such as epilepsy and autism.
A recent study published in Nature Communications has found that ebselen can correct many of the toxic characteristics of a protein causing some cases of hereditary motor neurone disease (MND). The drug-molecule can restore important steps in the SOD1 assembly process, potentially preventing neuronal cell death.
Researchers have developed a CRISPR-based treatment that can restore retinal function in mice afflicted with retinitis pigmentosa, a degenerative eye disease. The 'ablate-and-replace' strategy allows for the precise removal and replacement of the faulty gene, enabling faster and less expensive treatment options for dominant disorders.
A recent clinical study found that most parents-to-be want access to information from preconception carrier screening, including genetic variants associated with common disorders. However, the interpretation of these variants remains a significant challenge due to limited knowledge about their effects on health.
Researchers generated an atlas of the human genome using human embryonic stem cells, identifying essential genes for growth and survival. The study also analyzed the role of cancer-causing genes in early development and growth.
A recent study identified rare inherited variants in non-coding DNA as a contributor to autism spectrum disorder (ASD). These variants disrupt neighboring DNA control elements that regulate gene expression. The findings suggest that the inherited genetic contribution from mothers and fathers may be qualitatively different.
Researchers engineered a donor cornea with genes that inhibit vascularization, reducing the risk of tissue rejection in high-risk patients. The study shows promising results for gene therapy in preventing corneal graft rejection.
Researchers at OIST Graduate University found rapamycin can 'cure' cells with genetic defects, restoring normal cell function. The study identified 12 genes responsible for temperature-triggered defects in fission yeast cells.
Dr. Judith G. Hall, a pioneering geneticist, has been awarded the David L. Rimoin Lifetime Achievement Award for her groundbreaking research and teaching on human growth and connective tissue disorders. She is recognized for helping establish medical genetics as an accredited clinical specialty.
Researchers have identified the genetic basis of melorheostosis, a rare bone disorder characterized by excess bone formation resembling dripping candle wax. The study found that mutations in the MAP2K1 gene were responsible for the condition, offering potential treatment targets and insights into bone development.
Researchers have identified genetic links between ALS and frontotemporal dementia, suggesting that treatments for one may also work for the other. The study found common genetic variations associated with both disorders, including those near the MAPT gene and BNIP1.
A recent study developed a model to predict the effect of genetic variants on cognitive traits, opening the way for better interpretation of genetic analyzes and early care for children at risk. The discovery paves the way for clinicians to estimate cognitive impact of rare genetic variants.
Researchers discover bassoon gene mutations associated with a rare brain disorder, PSP-like symptoms, and cognitive decline. The study highlights the importance of analyzing BSN gene mutations in patients with neurological disorders.
Researchers found that genetic changes outside of genes, specifically regulatory elements, can cause rare developmental disorders. This discovery is a positive step towards providing an explanation for children with undiagnosed neurodevelopmental disorders, and could lead to diagnoses and treatment options for thousands of families.
A study by McMaster University researchers has pinpointed a gene responsible for neurodevelopmental disorders, including autism. The study found that alterations of the thousand and one amino-acid kinase 2 (TAOK2) gene play a direct role in these disorders.
Researchers have discovered 50 new gene regions increasing schizophrenia risk, including genes previously associated with intellectual disability and autism. These findings shed light on the disorder's complex genetics, suggesting subtle genetic variants can contribute to its development.