Proof-of-concept study advances potential new way to deliver gene therapy
Johns Hopkins Medicine researchers have developed a novel genetic engineering approach to deliver gene therapy by utilizing a cell's natural process to
Genetic Medicine
Articles tagged with Genetic Medicine
Head and neck cancer: Markers to facilitate better treatment in the future
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...
SourceMedical University of Vienna·JournalEuropean Journal of Nuclear Medicine and Molecular Imaging·DateOct 25, 2022
Analyzing diverse data types can accelerate drug discovery, study says
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.
Study identifies new gene that drives colon cancer
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.
SourceThe Mount Sinai Hospital / Mount Sinai School of Medicine·JournalNature Communications·DateOct 17, 2022
New mitochondrial disease identified in identical twins
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.
Cleveland Clinic researchers identify diabetes drug metformin as potential atrial fibrillation treatment in collaborative research
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.
COVID-19 virus-human protein network provides new tools and strategies for screening host-targeting therapies
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.
Genetic defects lead to enamel malformations
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 identify drug resistance factors for advanced prostate cancer
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.
Integrating genetic testing in electronic health records saves time, study finds
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.
SourceUniversity of Pennsylvania School of Medicine·JournalGenetics in Medicine·TypeObservational study·DateSep 21, 2022
Genetic variants linked to congenital urinary tract obstruction in males
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
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.
UCLA Health researchers analyze LA’s ‘stunningly diverse’ genetic ancestry to bring ethnic equity to precision medicine
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.
SourceUniversity of California - Los Angeles Health Sciences·JournalGenome Medicine·TypeObservational study·DateSep 9, 2022
Boosting physical activity/curbing sitting time highly likely to lower breast cancer risk
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.
Novel newborn screening system uses rapid whole genome sequencing and acute management guidance to screen and diagnosis genetic diseases
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.
SourceRady Children's Institute for Genomic Medicine·JournalThe American Journal of Human Genetics·TypeExperimental study·DateAug 24, 2022
Researchers gain insights into the genetic and molecular machinery that predisposes individuals to Alzheimer's disease
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.
SourceThe Mount Sinai Hospital / Mount Sinai School of Medicine·JournalNature Genetics·DateAug 5, 2022
Singapore clinician-scientist part of team winning £30M to end early death from killer heart diseases in global British Heart Foundation challenge
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.
Spanish scientists combine genetic and imaging data to improve the treatment of dilated cardiomyopathy
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.
SourceCentro Nacional de Investigaciones Cardiovasculares Carlos III (F.S.P.)·JournalEuropean Journal of Heart Failure·TypeRandomized controlled/clinical trial·DateJul 26, 2022
ACP offers guidance on the ethical use of genetic testing and precision medicine
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...
SourceAmerican College of Physicians·JournalAnnals of Internal Medicine·TypeLiterature review·DateJul 25, 2022
A healthy lifestyle can offset a high genetic risk for stroke, according to new research by UTHealth Houston
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.
SourceUniversity of Texas Health Science Center at Houston·JournalJournal of the American Heart Association·DateJul 20, 2022
Sperm screening might detect harmful mutations before embryo implantation
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.
Scientists unravel genetic mystery of rare neurodevelopmental disorder, provide definitive diagnoses to 21 families worldwide
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.
ACMG releases update to secondary findings gene list; SF v3.1 adds five genes, including one with variant linked to heart failure in underrepresented populations
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...
SourceAmerican College of Medical Genetics and Genomics·JournalGenetics in Medicine·TypeContent analysis·DateJun 17, 2022
Risk for miscarriage and failure of in vitro fertilization can be predicted
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.
Discovery offers starting point for better gene-editing tools
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.
Genetic risk scores help predict type 2 diabetes in people of south Asian origin, study finds
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.
Discovery reveals blocking inflammation may lead to chronic pain
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.
SourceMcGill University·JournalScience Translational Medicine·TypeExperimental study·DateMay 11, 2022
Gut microbiome composition predictive of patient response to statins
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.
SourceInstitute for Systems Biology·JournalMed·TypeComputational simulation/modeling·DateMay 11, 2022
Rutgers scientists develop test that easily detects variants causing COVID-19
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.
SourceRutgers University·JournalJournal of Molecular Diagnostics·TypeExperimental study·DateMay 4, 2022
Poor diet associated with increased diabetes risk across all gradients of genetic risk
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.
For neurons, where they begin isn’t necessarily where they end
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.
Newly developed genetic risk scores could help patients, physicians make health decisions
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.
SourceBrigham and Women's Hospital·JournalNature Medicine·TypeRandomized controlled/clinical trial·DateApr 18, 2022
Greater diversity in genetic studies helps researchers uncover new insights
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...
SourcePenn State·JournalHuman Genetics and Genomics Advances·TypeObservational study·DateApr 12, 2022
Personalized testing for safety and effectiveness of common medicines must be offered throughout the health service
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.
SourceBritish Pharmacological Society·JournalBritish Journal of Clinical Pharmacology·TypeCommentary/editorial·DateMar 28, 2022
The ACMG Foundation for Genetic and Genomic Medicine announces Carly Peterson as the recipient of the 2022 ACMG Foundation Carolyn Mills Lovell Genetic Counselor Award
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.
The ACMG Foundation for Genetic and Genomic Medicine Presents Four Next Generation Fellowship Awards at the 2022 ACMG Annual Clinical Genetics Meeting
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.
Kushani Jayasinghe, MBBS receives the 2022 Richard King Award for Best Publication by a Trainee in Genetics in Medicine
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.
Study involving investigators from Mayo Clinic, Baylor College of Medicine applies drug-gene testing to improve patient care and reports outcomes
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.
Could a community-based approach to genetic testing help African Americans reduce risks of chronic kidney disease?
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.
SourceThe Mount Sinai Hospital / Mount Sinai School of Medicine·JournalJAMA Network Open·TypeRandomized controlled/clinical trial·DateMar 4, 2022
SynGAP research fund deploys #CouldItBeSYNGAP1 screening tool in partnership with probably genetic
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 wins CAREER Award
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.
New study identifies the genes most likely to lead to heart attacks
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.
SourceVictor Chang Cardiac Research Institute·JournalCirculation·TypeExperimental study·DateFeb 15, 2022
Gene variants increase risk of kidney failure in Black veterans with COVID-19: study
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.
SourceVanderbilt University Medical Center·JournalJAMA Internal Medicine·TypeData/statistical analysis·DateFeb 10, 2022
First U.S. peer-reviewed study on omicron patient outcomes reveals rapid spread and significant differences in infection behavior
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.
SourceHouston Methodist·JournalAmerican Journal Of Pathology·TypeData/statistical analysis·DateFeb 3, 2022
Most “pathogenic” genetic variants have a low risk of causing disease
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.
SourceThe Mount Sinai Hospital / Mount Sinai School of Medicine·JournalJAMA·TypeData/statistical analysis·DateJan 25, 2022
Contrary to the common view, cerebral palsy can be genetic
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.
SourceBoston Children's Hospital·JournalAnnals of Clinical and Translational Neurology·DateJan 25, 2022
Nuclei-free cells prove utility in delivering therapeutics to diseased tissues
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.
Sanford Children's Genomic Medicine Consortium sequences genomes in immune-compromised children
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.
New gene therapy approach offers a potential long-term treatment for limb-girdle muscular dystrophy 2B
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.
French bulldogs have higher risk of 20 common health disorders
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.
Adults with rare genetic causes of mental health disorders more likely to have chronic illness
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 missing genetic switch at the origin of malformations
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.
Study shows how bias can creep into medical databanks that drive precision health and clinical AI
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.
SourceMichigan Medicine - University of Michigan·JournalHealth Affairs·TypeData/statistical analysis·DateDec 7, 2021
Johns Hopkins Medicine researchers map the cell types of the iris in mice
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.
PKU School of Stomatology reports new phenotype of LRP6 mutation
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.
Functional precision medicine using drug sensitivity testing enables tailoring of therapy for leukemia patients
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.
New gene identified that contributes to progression to type 1 diabetes
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.
SourceMedical College of Georgia at Augusta University·JournalJournal of Translational Autoimmunity·DateNov 16, 2021
Genetic testing identifies overlap of heart failure and arrhythmia conditions
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.
Returning genomic research findings reveals unrecognized disease risks
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...
National Organization for Rare Disorders designates The Mount Sinai Hospital as a Center of Excellence
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.