Articles tagged with Genetic Medicine
The American College of Medical Genetics and Genomics has released an updated minimum variant set of 100 CFTR gene variants for carrier screening, replacing the previous 23-variant list. The new recommendations apply to genetic testing to determine carrier status, not diagnosis or newborn screening.
A powerful new stem cell technique has enabled large-scale studies of the relationship between human genetics and biology, accelerating research and potential personalized treatments.
Gene therapy is being tested for rare skeletal dysplasia, affecting 1 in 200,000. Patients will receive a one-time infusion of viral vector containing correct gene sequence.
The Human Pangenome Reference Consortium expands and updates the human genome project with nearly full genomic data from 47 people of diverse ancestry. Researchers at UW Medicine made significant contributions to drafting the pangenome reference and studying variation within repetitive DNA, which could improve equity in human genome re...
Scientists have developed a new method to deliver genetic information to stem cells using nanoparticles coated with a specific polymer, enabling more efficient control over cellular differentiation. This innovation has the potential to improve the efficiency and effectiveness of regenerative medicine treatments.
A new study led by Mass General Brigham researchers found that 88% of rare disease experts agree on the benefits of genomic sequencing in newborn screening. The experts recommended screening for over 600 genetic conditions, including those associated with hemophilia and retinoblastoma.
A team of researchers from UNIGE and Beihang University has identified the FOXI3 gene as responsible for one form of Goldenhar syndrome, a rare congenital disorder. Pathogenic variants in both copies of the FOXI3 gene are necessary for the disease to develop, following an autosomal recessive inheritance pattern.
The study reveals that mammals diversified before the K-Pg extinction, driven by continental drifting and stability following the mass extinction. This led to the rich diversity of mammal lineages, including carnivores, primates, and hoofed animals.
The American College of Medical Genetics and Genomics (ACMG) has published a statement addressing factors that contribute to bias in clinical genetic testing. The statement highlights three main areas: environmental, clinical, and technical biases, which affect health equity for individuals from historically marginalized populations.
Researchers assembled the largest atlas of post-zygotic genome mutations in healthy human tissue, providing insight into genetic underpinnings of disease. The study found that most detectable mutations occurred later in life, but some arose systematically and predictably as people age.
A new clinical RNA sequencing platform at SickKids is helping researchers understand complex genetic conditions and improve diagnosis for patients with rare diseases. The platform has been validated to be used in the clinical space, providing valuable diagnostic information that complements genome sequencing.
A nationwide UK research study has diagnosed around 5,500 children with severe developmental disorders, identifying the genetic cause of their condition. The Deciphering Developmental Disorders study used genomic sequencing technology to provide diagnoses for families from across the UK and Ireland.
A large case-control study identified nine genes associated with stomach cancer risk and found that pathogenic genetic variations exacerbate the damage caused by H. pylori infection, significantly increasing the risk of gastric cancer. The study suggests that screening for pathogenic variants can help prioritize interventions.
The funding will support preclinical research using genetically modified pigs, aiming to improve compatibility and reduce immune rejection in xenotransplantation. The goal is to enable human clinical trials and address the organ shortage crisis.
A new American Heart Association scientific statement provides guidance on interpreting incidental genetic variants associated with cardiovascular disease risk. The statement aims to determine whether a variant truly carries a health risk and suggests next steps for individuals and healthcare professionals.
Richard McIndoe is leading a national research initiative to advance understanding of diabetes and obesity through the National Centers for Metabolic Phenotyping in Live Models of Obesity and Diabetes (MPMOD). The MPMOD initiative provides access to advanced testing services, including bariatric surgery on mice, to enable new insights ...
Researchers at the Icahn School of Medicine at Mount Sinai identified previously unknown genetic causes of three rare diseases: primary lymphedema, thoracic aortic aneurysm disease, and congenital deafness. The study used a computational approach to analyze large genetic datasets from rare disease cohorts.
The ACMG Foundation presented four Next Generation Fellowship Awards to Amélie Pinard, Mina Tabrizi, Herodes Guzman, and others. These awards recognize the support of Bionano Genomics and Sanofi and aim to advance medical genetics and genomics specialties.
Dr. Alexander M. Holtz received the award for his published article on heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies. The study highlights primary cilia-dependent defects in Hedgehog signaling, shedding light on a previously unknown autosomal dominant condition.
Sarah Jurgensmeyer, MS, CGC, received the 2023 ACMG Foundation Carolyn Mills Lovell Genetic Counselor Award for her platform presentation on increasing access to pediatric genetic services. The award recognizes the increasingly important role of genetic counselors in clinical genetics and genomic medicine.
Isabelle B. Cooperstein, a PhD candidate, receives the 2023 David L. Rimoin Inspiring Excellence Award for her work on rare disease diagnosis tools. Her research aims to create accessible diagnostic solutions using Human Phenotype Ontology and sequencing data.
Dr. Nara Sobreira has developed innovative tools like GeneMatcher and VariantMatcher to aid in rare disease diagnosis, earning her the 2023 Watson Genetic Medicine Innovation Award. She continues to work on expanding genome analysis accessibility through education and research initiatives.
A recent study found that the side effects of treating brain diseases with antisense oligonucleotides are related to altered calcium balance. By modulating calcium levels, researchers hope to reduce neurotoxicity and improve treatment outcomes for various neurological diseases.
Researchers used UK Biobank image and genomic data to uncover insights into rare retinal dystrophies, a leading cause of blindness in working-age adults. The study identified new genetic associations with the thickness of photoreceptor cell layers, offering new avenues for research and diagnosis.
Researchers studied genetic differences between two Chornobyl dog populations living near the nuclear power plant and 16.5 km away. They found significant genetic distinctions, with 391 outlier regions indicating potential genetic repair mechanisms. The study may provide insights into human adaptability to environmental disasters.
A genomic study of 180 indigenous Africans provides new insights into human history, biology, and population diversity. The research sheds light on the origin of modern humans, African population history, and local adaptation, including traits such as skin color, heart development, and immunity.
A new study links genetic changes in kidney cancer to patient outcomes, identifying four groups of patients based on mutation presence. This research may lead to more effective prediction of recurrence risk and personalized treatment for thousands of patients annually.
New studies reveal how NANOG gene reprograms senescent adult stem cells and skeletal muscle cells, reversing hallmarks of aging. Researchers discovered that inhibiting methionine metabolism restores age-associated impairments, leading to enhanced muscle strength and regeneration.
The study validated the clinical utility of Strata Oncology's proprietary pan-solid tumor predictive biomarker, Immunotherapy Response Score (IRS), which predicts response to checkpoint inhibitor therapy. IRS captures tumor biology and microenvironment by combining tumor mutation burden with quantitative expression of PD-L1, PD-1, ADAM...
Researchers evaluate an integrated NGS system, delivering accurate diagnoses in under 24 hours and expanding targeted treatments available to patients with myeloid neoplasms. The assay identified 80-92% of genetic variants, demonstrating promising results for accelerating precision therapies.
Researchers have identified the genetic secrets behind skullcap's anti-cancer activity, enabling the production of synthetic compounds. The discovery is expected to lead to more sustainable and rapid synthesis of cancer-fighting molecules.
Researchers have created a genetic map to identify important genes causing sarcoma, a common childhood cancer. The study found that one in 14 individuals with sarcoma carries a clinically significant gene, offering hope for earlier diagnosis and treatment.
The FinnGen study has identified over 2,500 genomic regions linked to at least one disease, including previously unknown risk factors for common and rare diseases. The research highlights the power of Finland's unique genetic landscape and population history in driving novel discoveries.
Researchers at HKUMed have established a baseline for gene expression profiles of amniotic fluid cells using RNA-sequencing, providing potential clinical utility for prenatal diagnosis. The study identified outliers in genes associated with structural congenital anomalies, offering new evidence for diagnosis.
A massive international data analysis uncovered hundreds of signals for new treatment and prevention targets in colorectal cancer. The study identified 250 independent risk associations, including 50 newly discovered ones, through analyzing genomic, transcriptomic, and methylomic data.
Researchers investigate how lung cancers evade the immune system to develop more effective immunotherapy treatments. The study aims to uncover a new way lung cancers disguise themselves from the immune system, potentially leading to improved treatment outcomes.
Researchers developed a new computer model, quantitative fate mapping, to trace the origin of cells in fully grown organisms. The model helps spot which cells acquire alterations during development that change an organism's fate from healthy to disease states.
A study found that antibodies to common antibiotic gentamicin are associated with an increased risk of progression to type 1 diabetes in children already genetically at risk. The researchers also identified an association between the FUT2 gene and the production of these antibodies, which may be compounding risks for type 1 diabetes.
A recent study published in Molecular Psychiatry reveals a genetic link between attention-deficit/hyperactivity disorder (ADHD) and Alzheimer's disease in older adults. Researchers used a polygenic risk score to analyze the relationship between ADHD genetic predisposition and cognitive decline, finding a higher risk of developing Alzhe...
A study published in Nature reveals that cells' inability to repair DNA damage caused by aldehydes increases the risk of developing head and neck tumors, particularly in patients with Fanconi anemia. The findings also suggest a link between smoking and drinking, which can lead to similar genetic mutations.
A new study pinpoints the first-ever domestication of cats to nearly 10,000 years ago in the Fertile Crescent region. Genetic analysis reveals that humans' transition from hunter-gatherers to farmers sparked the bond between humans and rodents-eating cats, leading to their migration with humans worldwide.
Researchers discover a shared genetic basis between fibromuscular dysplasia (FMD) and abdominal aortic aneurysms (AAA), with males more likely to develop AAA when a family member has FMD. The study suggests that screening for AAA in male relatives of patients with FMD may be beneficial, along with established guidelines.
Researchers found a strong association between rare tandem repeats in genes crucial for brain function and the development of schizophrenia. The study used whole-genome sequencing and machine learning techniques to analyze the genomes of 2,100 individuals, including those with and without schizophrenia.
Gene variants associated with leukaemia produce 'rogue' killer T cells that drive autoimmune diseases, according to a new study. These rogue cells can cause autoimmune disease even at low levels, highlighting the connection between leukaemia and autoimmunity.
Researchers found that genetic correlation estimates are confounded by cross-trait assortative mating, a phenomenon where individuals with similar traits mate more frequently. This suggests that some genetic correlations may be inflated and should be re-evaluated for disease risk prediction and therapy development.
Researchers at the University of Pittsburgh School of Medicine have discovered a genetic link between melanoma tumors and telomere maintenance, which could lead to new treatments for the disease. The study found that mutations in the TPP1 gene stimulate telomerase activity, promoting long telomeres that enable cancer cells to divide in...
Researchers investigated Aicardi-Goutières syndrome and found that viral RNA recognition drives uncontrolled interferon production. The immune system mistakenly attacks healthy cells due to the failure of safety mechanisms to distinguish between viral and host genetic material.
A new study by UCL researchers found that tailoring whole genome sequencing analysis to individual patients can double the diagnostic rates of rare diseases. The personalised approach increased the diagnostic rate from 16.7% to 31.4%, detecting potential disease-causing variants in a further 3.9% of patients.
A new study published in Alzheimer's & Dementia found that telmisartan, a blood pressure medication, is associated with lower risk of Alzheimer's specifically in Black patients over 60. The study analyzed data from over 5 million patients and suggests that future clinical trials should prioritize minority populations to find or reinfor...
Johns Hopkins Medicine researchers have developed a novel genetic engineering approach to deliver gene therapy by utilizing a cell's natural process to
A study published in European Journal of Nuclear Medicine and Molecular Imaging identified specific genetic markers associated with high risk of head and neck cancer. The research used DNA sequencing, artificial intelligence, and positron emission tomography to analyze cellular characteristics of tumors. These markers can facilitate mo...
A new study in Cell Systems explores the benefits of using multiple data types in drug discovery. Gene expression and cell morphology provide complementary information for drug prioritization, advancing drug discovery, functional genomics, and precision medicine.
Researchers at Mount Sinai's Tisch Cancer Institute have discovered a new gene, PDZK1IP1, essential to colon cancer growth. The study found that surrounding inflammation activates the super enhancer, promoting tumor cell survival and growth.
Researchers at Massachusetts General Hospital and Children's Hospital Philadelphia have identified a rare genetic disorder affecting mitochondrial energy production. The study found that identical twins exhibited hypermetabolism due to hyperactive mitochondria, resulting in low body weight despite consuming more calories than needed.
Researchers found that metformin targeted 30 genes associated with atrial fibrillation, showing direct effects on gene expression for eight. The study suggests metformin may be a promising candidate for treating atrial fibrillation due to its potential to reduce the risk of complications such as stroke and heart failure.
A Cleveland Clinic-led research team created a discovery tool outlining interactions between COVID-19 and host proteins, identifying potential host-targeting therapies. The study confirmed over 200 interactions and discovered new ones, highlighting promising approaches for treating COVID-19.
A study conducted at the University of Zurich has identified a key gene network responsible for severe tooth enamel defects. The researchers found that mutations in the Adam10 molecule lead to disorganization of ameloblasts and severe defects in both structure and mineral composition of enamel.
Mayo Clinic researchers identified critical genomic changes associated with abiraterone acetate/prednisone resistance in advanced prostate cancer. An 11-gene drug panel predicted a worse prognosis for a subset of patients, and whole-exome sequencing data revealed mechanisms of acquired resistance.
A new study found that integrating genetic testing into electronic health records (EHRs) significantly reduces clinician workload, with average savings of 45 minutes per day. Clinicians can now order and manage tests directly through the EHR, resulting in reduced time spent on clerical work.
A genome-wide study has identified two genetic variants and structural changes in chromosomes associated with posterior urethral valves, a condition that affects 1 in 4,000 males. The study highlights the importance of including diverse populations in genetic studies to identify genetic contributors to rare conditions.