Medical Genetics
Articles tagged with Medical Genetics
Study reveals common mutation linked to autoimmune diseases may protect people from viral infections
A recent study from the University of Kansas found that a common mutation in the PTPN22 gene may provide a survival advantage against viral infections, including coronavirus. The mutation was previously associated with an increased risk of developing autoimmune diseases such as diabetes and lupus.
Global experts discover new genetic cause of juvenile glaucoma
Exeter leads rare disease global genetic testing project, improving access and saving young lives
A global partnership has provided life-saving genetic testing for over 1,100 families worldwide, improving treatment options for children with congenital hyperinsulinism. The Open Hyperinsulinism Genes Project combines cutting-edge genetics expertise with funding from a charity organization to expand access to rapid genomic testing.
Cold hands, warm heart — Body temperature a key factor in where TRPM4 mutations cause disease
Researchers discovered that body temperature plays a key role in which tissues are affected by TRPM4 ion channel mutations. The findings explain why disease-causing TRPM4 mutations lead to mutually exclusive conditions, such as severe skin diseases like PSEK and heart disorders like progressive familial heart block.
New study finds task switching raises risk in transplant surgeries
A new study from Virginia Tech found that task switching in transplant surgeries increases one-year mortality rates by 14.8 percent, highlighting the need for efficient scheduling and workflow changes to minimize risks. The research also suggests that recovery time and surgeon experience level can mitigate these effects.
Identifying genetic causes of blindness in people and macaques
A team of scientists at the University of California, Davis, has discovered an inherited form of blindness directly comparable to autosomal dominant optic atrophy (ADOA) in rhesus macaques. The study could lead to a better understanding of ADOA and potentially new treatments.
Alliance for Clinical Trials in Oncology supports April Head and Neck Awareness Month
The Alliance for Clinical Trials in Oncology has several active trials specifically designed to help people with head and neck cancers. Trials include testing high-dose prophylactic gabapentin to prevent opioid use during treatment, as well as immunotherapy with nivolumab and cabozantinib for mucosal melanoma and nasopharyngeal carcino...
University of Calgary-led study shows link between migraine genetics and post-concussion headaches in kids
A University of Calgary-led study found that children with genes predisposing to migraine are at higher risk of developing more severe headaches after a concussion. The research identified specific genetic mutations and family history of migraine as associated risks.
Researchers identify new genetic disease that interferes with brain development
Scientists have discovered a new rare genetic disease caused by a mutation in the RPN1 gene, which affects glycosylation and leads to protein instability. The disease, now termed RPN1-CDG, is characterized by neurodevelopmental issues and has expanded the number of genes associated with OST complex diseases.
Antidepressant unable to prevent chemotherapy-associated nerve damage
A randomized trial found that duloxetine does not prevent painful neuropathy caused by oxaliplatin-based chemotherapy in patients with stage II or III colorectal cancer. The study suggests that duloxetine should only be used for managing existing neuropathy, not prevention.
Alliance marks Adolescent and Young Adult Cancer Awareness Week
The Alliance for Clinical Trials in Oncology is enrolling adolescent and young adult cancer patients in various trials, including genetic services and treatment studies. These trials aim to address longstanding gaps in care and improve outcomes for AYAs with cancer.
Researchers identify blood-based biomarker for cancer risk in people with Lynch Syndrome
A new blood-based biomarker has been discovered to help identify individuals at higher risk of developing cancer in people with Lynch Syndrome. The biomarker uses immune signatures detected in blood samples to provide unique characteristics that can detect cancer risk, allowing for early detection and personalized surveillance.
Survey: Americans strongly support autism research — but most don’t know brain donation is needed to advance it
A new survey by Autism BrainNet reveals a significant disconnect between Americans' strong support for autism research and their limited understanding of postmortem brain donation. The survey found that 70% of respondents had never heard of brain donation, despite 92% agreeing its importance in advancing research.
New genetic ‘roadmap’ advances precision therapy for intrahepatic cholangiocarcinoma
A new genetic 'roadmap' provides a navigational framework for more precise diagnosis and treatment of intrahepatic cholangiocarcinoma. The framework identifies five molecular subtypes, each associated with distinct therapeutic vulnerabilities, enabling targeted treatment strategies.
Strong patient diversity in biobanks reveals new genetic links to disease risk, treatment response
Researchers analyzed genetic data from nearly 94,000 participants in UCLA's ATLAS Biobank, highlighting new connections between genes, disease risk and medicine response. The study found that genetics can predict how well patients respond to GLP-1 drugs for weight loss purposes, with varying response rates across ancestry groups.
NUTM1 rearrangements cause a highly treatable form of infant leukemia
Researchers found that NUTM1 rearranged leukemia is distinct from other forms, with decreased DNA methylation and increased lifespan of blood cells. Leukemias with BRD9-NUTM1 fusion are extremely sensitive to chemotherapy, leading to improved clinical outcomes.
How you walk could help doctors tell two similar brain diseases apart
Researchers found that people with early dementia with Lewy bodies walk more slowly and have a lower walking rhythm than those with early Parkinson's disease. This study highlights the promise of measuring movement in a more detailed manner to improve diagnosis accuracy.
Medical centers highlight responsible ways to share genetic disease risk information
A study by Cincinnati Children's Hospital Medical Center and the eMERGE network found that sharing genetic disease risk information with patients can be done responsibly, with a 70% success rate. The team shared results with over 24,000 people using various methods, including one-to-one conversations for those with higher-risk findings.
New alliance clinical trial aims to improve outcomes in brain tumors
A new clinical trial will investigate whether adding the oral medication vorasidenib to standard chemotherapy improves progression-free survival for people with newly-diagnosed, grade 3 IDH-mutant astrocytoma. The study aims to recruit 400 individuals with this type of brain cancer and evaluate the safety and side-effect profile of the...
Study finds shared genetic roots of MS across diverse ancestries
A new study reveals that people of South Asian, African, and European ancestry share common genetic risk factors for multiple sclerosis, despite historic lack of representation in research. The study highlights the importance of diverse representation in research to improve understanding of the disease and develop effective treatments.
New trial seeks to improve sharing of genetic colorectal cancer risks
A new clinical study aims to improve communication between patients and families about genetic risks of colorectal cancer. The trial will compare two methods of sharing genetic test results with close relatives, with the goal of learning which approach helps more family members get necessary genetic testing.
Preventing breast cancer resistance to CDK4/6 inhibitors using genomic findings
A new study from Memorial Sloan Kettering Cancer Center reveals that analyzing a patient's genomic profile can predict breast cancer resistance to CDK4/6 inhibitors. The researchers found that inheriting a BRCA2 mutation and other genetic alterations increase the likelihood of resistance. This discovery provides a new strategy for pred...
Researchers identify “fingerprint” of gene that commonly causes congenital heart defects
A team of researchers from the University of Oldenburg has discovered a unique genetic pattern, or 'fingerprint', associated with NOTCH1 gene variants that commonly cause congenital heart defects. This breakthrough enables more reliable diagnoses and targeted therapies for patients and their families.
THRIVE: Transforming health: Reclaiming intrinsic vitality for everyone
The THRIVE team is developing a PROSPR Intrinsic Capacity score to predict 20-year health outcomes, using wearable data, blood-based biomarkers, and health surveys. The score aims to enable accessible, scalable monitoring of aging and improve interventions.
Study reveals the gene networks driving sex differences in respiratory health
A new study has confirmed that male and female lungs are wired differently at the molecular level, revealing key gene networks driving sex differences in respiratory health. The research found that male lungs are more reactive to environmental triggers, leading to different disease experiences between sexes.
HKUMed–Dentistry study discovers brain microenvironment redefines metastatic tumour subtypes, facilitating precision oncology treatment
Researchers identified four distinct brain metastasis subtypes, each with unique immune landscapes and metabolic programmes. The 'Immune-infiltrated subtype' showed high sensitivity to immunotherapy, while the 'Metabolic subtype' responded well to targeted therapies. The study paves the way for personalized treatment strategies.
Study maps how varied genetic forms of autism lead to common features
Researchers created a comprehensive map showing how eight different genetic mutations associated with autism spectrum disorder affect early brain development. They found that despite initial differences, these mutations increasingly impact overlapping molecular pathways as development progresses.
Treatment initiation is possible with a positive liquid biopsy in primary central nervous lymphoma patients with difficult-to-access lesions
Researchers successfully diagnosed and treated ten PCNSL patients using liquid biopsy, detecting hotspot MYD88 L265P mutations in circulating tumor DNA. This method offers a reliable alternative to surgical biopsies for patients with difficult-to-access lesions or frailty, enabling timely treatment initiation.
How do nature and nurture shape our immune cells?
Researchers at Salk Institute debut an epigenetic catalog that shows genetic inheritance and life experiences have distinct effects on various types of immune cells, shedding light on individual differences in immune responses and potential new personalized therapeutics.
Pediatric investigation review highlights the future of newborn screening with next-generation sequencing
The use of next-generation sequencing in newborn screening can detect a wide range of genetic disorders, some of which are not currently testable through traditional means. This approach enables earlier disease detection and long-term health planning.
A study by CNIO identifies new genes that predispose an individual to pancreatic cancer
A new study by CNIO has identified two genes in the complement system that increase the risk of pancreatic ductal adenocarcinoma. These genes, FCN1 and PLAT, may serve as biomarkers for screening high-risk populations.
Most Alzheimer’s cases linked to variants in a single gene
Researchers found that close to half of all dementia cases would not arise without the APOE gene's influence, and potentially more than 90% of Alzheimer's disease cases are linked to variants in this single gene. The study highlights the APOE gene as a powerful target for drug development.
Understanding sex-based differences and the role of bone morphogenetic protein signaling in Alzheimer’s disease
A study found that increased bone morphogenetic protein signaling is linked to impaired neurogenesis in Alzheimer's disease, particularly in female mice. The research suggests that activation of BMP signaling may be a key factor contributing to the sex-based differences observed in AD.
New evidence reveals streptococcus anginosus drives gastric cancer development
A recent study published in Gut journal revealed that Streptococcus anginosus produces methionine metabolites, which significantly contribute to the development of gastric cancer. The research opens new paths for microbiota-targeted prevention strategies.
Individual genetic differences render some therapies ineffective
Research from the University of Basel found that individual genetic differences can make antibody-based therapies ineffective in some people. The study analyzed thousands of genetic sequences and discovered a large number of naturally occurring variations in amino acid sequences, which can render treatments ineffective.
Blood test may help identify which colon cancer patients benefit from NSAIDs
A blood test may help doctors identify which patients with colon cancer can benefit from anti-inflammatory medication and chemotherapy after surgery. The test measures circulating tumor DNA levels, and high-risk patients who test positive see improved survival rates when taking celecoxib with chemotherapy.
FDA drug trials exclude a widening slice of Americans
A study found that only 6% of FDA-approved drugs reflect the US racial and ethnic makeup, with a decline in Black and Hispanic enrollment between 2021 and 2023. The researchers recommend setting diversity goals at preclinical stages and collecting biological samples to understand how people's bodies react to medications.
New UK guideline for clopidogrel recommends pharmacogenetic testing for all patients before prescription
The UK has published a new clinical guideline recommending pharmacogenetic testing for all patients prescribed clopidogrel to determine their individual genetic response to the medication. This is due to variations in the CYP2C19 enzyme, which affects how clopidogrel works in different people.
Pusan National University researchers identify the brain enzyme that drives nicotine addiction and smoking dependence
Astrocytic glutamine synthetase plays a key role in regulating glutamate signaling, contributing to nicotine-induced brain changes and locomotor sensitization. A custom-designed peptide inhibits this process, demonstrating the importance of astrocyte communication in nicotine addiction.
New research discovers dementia-linked protein’s role in DNA mistakes
A recent study found that the protein TDP43 regulates genes responsible for fixing DNA mistakes, which can lead to cancer when overactive. The discovery could lead to new treatments by controlling overactive DNA repair, offering a therapeutic strategy for diseases such as ALS and dementia.
Research challenges idea that gene PTPN22 boosts production of interferons
A new paper from the University of Kansas overturns the idea that gene PTPN22 boosts production of Type 1 interferon, a key antiviral response. Researchers found no difference in interferon production when PTPN22 was knocked out, but discovered its influence on other immune signaling pathways.
ASHG expands year-round virtual education with genetic diagnosis and rare disease symposium
The American Society of Human Genetics (ASHG) is hosting the Genetic Diagnosis & Rare Disease Virtual Symposium, providing state-of-the-art methodologies in genetics and genomics research. Attendees can earn CME credits and engage with leading experts in rare disease diagnosis and genomic technologies.
Launch of provincial hereditary cancer registry to drive new discoveries and link Ontarians to resources
The Ontario Hereditary Cancer Research Network has created a comprehensive provincial database to support research on cancers passed down through genetics. Ontarians at risk of hereditary cancers can now register for access to clinical trials, advocacy groups, and other resources.
AMP 2025 press materials available
Researchers are presenting groundbreaking findings at the Association for Molecular Pathology's annual meeting, including a novel technique to study ancient DNA and rapid detection of serious fungal pathogens. The Association for Molecular Pathology is providing press materials and resources for media coverage.
Hippo signaling pathway as a therapeutic target for nephronophthisis
Researchers used human-induced pluripotent stem cell-derived kidney organoids to model nephronophthisis, revealing the Hippo signaling pathway's role in fibrosis. Inhibiting this pathway with drugs like verteporfin shows promise as a treatment option.
What we learned from a decade-long genome cohort study of 100,000 Japanese individuals
Researchers at Tohoku University shared key findings from their 10-year genome cohort study, highlighting effective techniques for analyzing and managing genomic data. The study's unique approaches to whole-genome sequencing, including qMiSeq and iDeal protocols, have been widely adopted by institutions worldwide.
Chinese Medical Journal study highlights transposable elements' role in health and disease
A review highlights transposable elements' influence on gene expression, genome stability, and disease development. TEs are recognized as regulators of gene regulation and disease, offering new avenues for diagnosis and therapy.
Unlocking key insights into gene expression using a novel mouse model
Researchers developed a novel mouse model to visualize RNA Polymerase II during elongation, shedding light on gene expression dynamics. The study revealed dynamic patterns of gene transcription activity in various tissues and developmental states, with implications for understanding development, differentiation, and disease mechanisms.
Genetic testing trifecta predicts risk of sudden cardiac death and arrhythmia
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 unveil a powerful new gene-switch tool
Researchers at Weill Cornell Medicine have developed a powerful new gene-switch tool called Cyclone, which allows scientists to turn on or off target genes with precision. The tool uses a non-toxic molecule acyclovir to suppress gene activity, and has the potential to be adopted throughout biomedical research and gene therapies.
Novel gene therapy for hereditary hearing loss developed at Tel Aviv University
The study successfully applied a new gene therapy approach to treat impairments in hearing and balance caused by inner ear dysfunction. The treatment method used an advanced AAV vector, achieving faster and more efficient transduction of hair cells and preventing degeneration.
New Alliance trial studies targeted therapies for rare adrenal cancers
A new Alliance trial is exploring the effectiveness of a combination of targeted therapy and immunotherapy for patients with advanced adrenocortical carcinoma, a rare and aggressive cancer. The study aims to improve disease control and quality of life for patients with limited treatment options.
Hunting for the chromosomal genes that break the heart
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.
Women better protected against early neurodegeneration in Parkinson's disease
A large international study reveals that women with a precursor condition to Parkinson's disease exhibit significantly less brain atrophy compared to men. The research suggests that estrogens may play a crucial role in protecting the brain from neurodegeneration.
Personalized breast cancer therapy: A new treatment approach for patients with limited tamoxifen efficacy
Researchers developed TAMENDOX to supplement (Z)-endoxifen in patients with CYP2D6 enzyme deficiency, improving drug concentration and effectiveness. The new therapy was well-tolerated, showing promise as an alternative to aromatase inhibitors for premenopausal women.
Association for Molecular Pathology develops standardized biomarker report template for providers
The Association for Molecular Pathology has created a standardized biomarker report template to simplify complex molecular profiling data presentation to oncologists and healthcare providers. The template includes guidelines for clear formatting, therapeutic guidance, and references to clinical practice guidelines.
AI and omics unlock personalized drugs and RNA therapies for heart disease
A new review in Frontiers in Science calls for a fundamental shift in how heart drugs are discovered and tested using AI, omics, and big data. This approach could drive the development of personalized treatments for cardiovascular disease, which currently relies on broad-brush treatments that don't account for individual variability.
Landmark genetic study sheds new light on how the eye develops its sharpest vision
Researchers have identified over 120 genetic signals shaping foveal development, including pathways involved in vitamin A metabolism and retinal cell fate. The study provides the first comprehensive genetic dissection of human foveal pit architecture, revealing new insights into childhood visual disorders.
Considering sex hormones led to better identification of genes linked to type 2 diabetes
Researchers found 22 previously unknown genetic variants associated with type 2 diabetes by considering participants' hormone levels. The analysis suggests that sex hormone levels interact with genes to increase the risk of developing the disease.