Articles tagged with Genetic Medicine
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.
New research estimates the overall disease burden of genetic risk factors on healthy life years lost, prioritizing interventions using genetic information. The study found that common genetic variants for cardio-vascular diseases and Alzheimer’s disease have a substantial population-level impact.
Researchers analyzed genomic data from 30,000 patients and found a highly diverse patient population with ancestries from virtually all continents. This study aims to leverage genetic diversity for discovery in personalized healthcare, especially for underrepresented populations.
Research using genetic variants as proxies for physical activity levels found a link between higher activity and lower invasive breast cancer risk. A higher overall level of genetically predicted physical activity was associated with a 41% lower risk of invasive breast cancer.
A scalable prototype for newborn screening, including rapid Whole Genome Sequencing and virtual acute management guidance, has been developed to rapidly screen for several hundred genetic diseases. The system demonstrates feasibility in identifying genetic diseases with effective interventions.
A team of researchers from The Mount Sinai Hospital has made a groundbreaking discovery into the genetic and molecular mechanisms that predispose individuals to Alzheimer's disease. They identified 21 candidate risk genes, including SPI1, which regulates microglia and AD risk.
A global team of researchers, including Professor Stuart Cook, has won £30M to develop an injectable cure for genetic heart conditions. The team aims to pioneer gene therapy technologies to silence or edit faulty genes causing deadly conditions.
A Spanish study combines genetic and imaging data to predict patient prognosis, identifying those at risk of malignant arrhythmias or severe complications. The findings open the way for personalized medicine in treating dilated cardiomyopathy.
The American College of Physicians (ACP) has issued a position paper on the ethical use of genetic testing and precision medicine in internal medicine. The guidelines address key issues such as incidental findings, education for physicians and patients, and counseling needs. ACP emphasizes the need for ongoing surveillance and anticoag...
A new study published in the Journal of the American Heart Association found that people with high genetic risk for stroke can reduce their risk by 30-45% by adopting a healthy cardiovascular lifestyle. The study followed 11,568 adults over 28 years and showed that modifying lifestyle risk factors can offset genetic risk.
A preliminary study published in eLife suggests that sperm screening can identify potentially harmful new genetic mutations and help prevent them from being passed on to offspring. The study found that 55 mutations were detected in the men's sperm, including 15 passed on to an embryo.
A collaborative team of scientists has discovered 15 additional genetic mutations in the KCNK9 gene that cause a neurodevelopmental syndrome. The study provides definitive diagnoses to 21 families worldwide, offering new insights into the disorder's symptoms and treatment options.
The American College of Medical Genetics and Genomics has released an updated recommended minimum gene list for the reporting of secondary findings. The update adds five new genes, four associated with dilated cardiomyopathy predisposition and one with hereditary transthyretin amyloidosis, a cause of heart failure. The new list aims to...
A Rutgers study predicts a woman's risk of miscarriage based on her genome, providing valuable insights for reproductive choices and fertility treatment plans. The researchers developed an algorithm using machine learning methods to identify genetic variants associated with aneuploidy in human eggs.
Cornell researchers develop smaller gene-editing tool, IscB-ωRNA, to solve size problem of delivering CRISPR-Cas9 into every cell. The tool works similarly to CRISPR-Cas9 but with a smaller RNA component, offering new starting point for more powerful and accessible gene editing tools.
A new study found significant genetic differences in type 2 diabetes risk compared to European populations. Combining a genetic risk score with a clinical risk score improved the prediction of type 2 diabetes in British Pakistani and British Bangladeshi individuals, especially in young people.
Researchers from McGill University and Italy found that blocking neutrophils can prolong pain, even with anti-inflammatory drugs. The study suggests reconsidering acute pain treatment, and findings are supported by a large UK analysis.
A study published in Med found that the human microbiome's variation explains different patient responses to statins. The researchers discovered a Bacteroides enriched microbiome with lower diversity was associated with stronger LDL-lowering effects but greater disruption of blood glucose levels.
A new lab test has been developed by Rutgers scientists to identify COVID-19 variants. The test uses molecular beacon technology and can detect eight different mutations in the spike protein, increasing the transmissibility of the virus and evading immune defenses.
A recent study published in PLOS Medicine found that a poor diet is associated with a 30% increased risk of type 2 diabetes, regardless of genetic risk factors. The study analyzed data from over 35,000 US adults and found that both genetic and lifestyle factors contribute to individual susceptibility to the disease.
Scientists have developed novel methods to study human brain cell migration during fetal development by tracking genetic mutations in healthy adult individuals. This allows for the first time to reconstruct brain development and provide key findings on cell type origins and hemisphere separation.
Researchers have developed polygenic risk scores for six common diseases, enabling physicians and patients to make informed decisions about screening and prevention. The scores show high-risk individuals may benefit from more frequent screenings or preventive medications.
A new study has shown that increasing genetic diversity can improve researchers' ability to identify important genetic markers for health conditions. The study, which analyzed data from over 470,000 Hispanic/Latino individuals, identified 42 previously unidentified regions of the human genome related to BMI, height, and waist-to-hip ra...
A report by the British Pharmacological Society and Royal College of Physicians recommends integrating pharmacogenomic testing to ensure medicines work safely and effectively for individual patients. The UK is a world leader in genomic medicine, and expanded testing would further demonstrate this leadership.
The ACMG Foundation presented four Next Generation Fellowship Awards to outstanding individuals in medical genetics and genomics. Ibrahim Elsharkawi and Jessica Priestley received the awards for their dedication to biochemical genetics, with support from Bionano Genomics, Spark Therapeutics, Takeda, Sanofi-Genzyme, and Pfizer.
Dr. Kushani Jayasinghe, a nephrologist and trainee in clinical genetics, received the 2022 Richard King Award for her article on genomic testing in patients with suspected monogenic kidney disease. The award recognizes high-quality research published in Genetics in Medicine by trainees.
Carly Peterson, a genetic counseling graduate student, received the 2022 ACMG Foundation Carolyn Mills Lovell Genetic Counselor Award. Her platform presentation explored parenting stress in raising children with sex chromosome aneuploidies, using data from the eXtraordinarY Babies Study.
A new study from Mayo Clinic and Baylor College of Medicine found that targeted genomic information can significantly impact drug prescribing practices. By applying drug-gene testing, clinicians can identify nearly every patient as a potential candidate for preemptive testing, particularly for drugs with unknown genetic influences.
Researchers found that a community-based approach to reporting APOL1 genetic test results resulted in lower blood pressure readings among hypertensive patients. This trial suggests that involving communities in genetic testing could be beneficial for reducing the risks of chronic kidney disease.
The SynGAP Research Fund has developed a pre-screening tool to identify potential SYNGAP1 patients through a free online survey. The partnership with Probably Genetic aims to screen undiagnosed patients and provide them with genetic testing resources, ultimately advancing treatment development for SYNGAP1.
Xue Sherry Gao has won a prestigious CAREER Award to create versatile toolkits for controlling gene expression. Her research aims to develop broadly applicable platforms for gene regulation, with a focus on precision dosing and safety features.
A new study has identified the critical genes most likely to cause coronary heart disease and trigger heart attacks. The research provides a prioritized list of 162 genes, which will enable more accurate genetic testing and targeted therapies for patients at risk of coronary heart disease.
A new study published in JAMA Internal Medicine has found that gene variants increased the risk of acute kidney injury and death in African American veterans hospitalized with COVID-19. The study, which analyzed data from over 850,000 diverse veterans, identified APOL1 variants as a key contributor to this increased risk.
The first US peer-reviewed study on omicron patient outcomes found significant differences in infection behavior. Ominron patients are significantly younger, have increased vaccine breakthrough rates, and are less likely to be hospitalized compared to patients with alpha or delta variants.
Researchers analyzed DNA sequences and electronic health records of thousands of individuals to discover that the chance a pathogenic genetic variant may cause a disease is relatively low, about 7 percent. However, some variants are linked to wide range of risks for disease.
A DNA sequencing study of 50 patients with cerebral palsy found a genetic cause in 26% of cases. The study identified 13 different genes associated with the condition. Genetic findings led to changes in patient care plans and urged clinicians to consider genetic causes for CP without known risk factors.
Researchers successfully engineered mesenchymal stromal cells to carry and deliver therapeutics specifically to targeted tissues, offering a precise and reliable approach for treating diseases. This novel cargo-carrier, dubbed 'Cargocytes,' retains most of its cellular functionality while greatly enhancing therapeutic capacity.
The Sanford Children's Genomic Medicine Consortium has initiated a whole genome sequencing research project to investigate undiagnosed illnesses in children with suspected inborn errors of immunity. The study aims to sequence the genomes of up to 25 patient genomes and learn information that can benefit patients and others.
Researchers developed a non-muscle targeted gene therapy that enhances muscle fiber repair and improves muscle function in LGMD 2B patients. The treatment, administered via a single injection, reduces muscle degeneration and restores myofiber size and muscle strength.
A recent study published in Canine Medicine and Genetics found that French Bulldogs have a significantly higher risk of being diagnosed with 20 common health disorders compared to other breeds. The authors propose breeding towards more moderate characteristics to reduce these risks.
Researchers from UNIGE found that a single missing genetic switch can lead to clubfoot and other malformations by disrupting cellular activation. The study highlights the crucial role of genetic switches in developmental disorders, suggesting that flaws in these mechanisms may be responsible for numerous malformations.
A Geisinger study found that adults with rare genetic causes of mental health disorders are more likely to have chronic illnesses like diabetes and dementia. The research also discovered that these individuals had twice as many annual emergency room visits compared to a control group without the genetic conditions.
A new study reveals how design bias can affect medical data used in artificial intelligence tools and personalized healthcare. The research highlights the need for more inclusive recruitment strategies to ensure diverse patient populations are represented.
Researchers genetically mapped the cell types of the mouse iris, revealing four new cell types and mapping genetic changes that occur when the iris dilates. This research may help connect genetic similarities between mice and humans, offering clues for developing new diagnostic tests and treatments for eye diseases.
Researchers identified two novel mutations in the LRP6 gene associated with a rare form of hand polydactyly and tooth agenesis. The study expands the genetic spectrum of LRP6-related disorders, enabling clinicians to differentiate diagnosis and facilitate genetic research.
A functional precision medicine study demonstrates that treatment selection based on results from drug sensitivity testing can be clinically useful in patients with aggressive hematological cancer. The approach combines deep molecular profiling with comprehensive drug sensitivity testing to advance the therapy decision-making system.
A new study has identified the CCR2 gene as a key player in the progression of type 1 diabetes. The research found that lower blood levels of CCL-2, a ligand for CCR2, were associated with increased immune cell recruitment to the pancreas, leading to islet cell destruction.
A new study finds that genetic testing for cardiomyopathies and arrhythmias simultaneously can detect conditions more accurately than single-condition tests. This leads to better diagnosis and treatment options, such as targeted therapies and monitoring devices.
A new study published in The American Journal of Human Genetics found that 76.3% of participants who received actionable genomic results were unaware they carried increased risk variants, even though half met clinical criteria for genetic testing. Comprehensive sequencing revealed previously missed variants, emphasizing the need for mo...
Mount Sinai joins a nationwide network of medical centers specializing in rare disorders to foster knowledge-sharing, connect patients with specialists, and improve treatment and research. The designation aims to establish a standard of care for rare diseases.
The University of Pennsylvania School of Medicine has been awarded a $9.5 million grant to increase diversity in genetic counseling programs, which currently lack a diverse workforce. The program aims to expand all dimensions of diversity and provide full tuition support to underrepresented students.
A five-year study aims to identify hormone responses in a population of Mexican Americans with prediabetes, Type 2 diabetes, and obesity. The research uses genetic data and physiologic testing to guide optimal treatments for diabetes, prediabetes, and related diseases.