Articles tagged with Genetic Medicine
Researchers have made breakthroughs in deleting yeast DNA using CRISPR, with potential to save lives from fatal candidiasis infections. The team is expanding the technology to diverse fungi and using AI models to predict its success.
Researchers developed a genetic risk score to analyze risk of type 1 diabetes in patients with MODY, identifying 16% with atypical type 1 diabetes. The score, now adopted as part of NHS testing, provides a diagnosis for patients with negative MODY tests.
A new review highlights how molecular biology advances are reframing PAH as a complex vascular remodeling disease driven by endothelial dysfunction, chronic inflammation, metabolic dysregulation, and genetic susceptibility. Emerging therapies target the BMP/TGF-β pathway, growth factor signaling, and inflammatory pathways.
Researchers have identified a widespread source of error in a popular genome study method and created a machine-learning tool to correct it. PATTY uses machine learning to reduce artifacts while preserving real signals in noisy data, giving researchers a clearer view of gene activity control.
Researchers identified why some patients with rare blastic plasmacytoid dendritic cell neoplasm (BPDCN) leukemia don't respond to tagraxofusp. Severe TET2 gene mutations and low TXNRD1 enzyme levels contribute to resistance, suggesting these biomarkers could predict treatment outcomes.
Researchers at Niigata University conducted the first comprehensive reappraisal of Alzheimer's disease risk in Japanese APOE-e4 homozygotes, finding a substantially lower risk than previously cited estimates. The study suggests that the risk is comparable to estimates reported in large studies of people with European ancestry.
A team studied 173 multiplex families from the Azores and Madeira islands, finding a single broken gene that travels through three generations and causes different illnesses. The CHD2 mutation is rare and affects schizophrenia, mood disorder, and autism in different family members.
Researchers at UT MD Anderson Cancer Center have made significant advances in understanding cancer biology, developing AI-powered atlas of tertiary lymphoid structures as prognostic biomarkers, and uncovering drivers of resistance to KRAS inhibitors. Additionally, they have discovered a molecular pathway that drives stressed cells to b...
Researchers analyzed tumor samples from over a thousand patients and found that TP53 gene mutations can worsen prognosis and reduce effectiveness of targeted therapies. The study suggests incorporating genetic testing into public health services to guide personalized treatment choices.
The study demonstrates that the T1GRS tool can identify children and adults at high risk for Type 1 diabetes earlier than current methods, enabling preventive measures before the disease develops. The researchers grouped individuals into four sub-types based on genetic features, each with unique clinical profiles and outcomes.
The University of Chicago and IDefine are partnering to develop a potential therapeutic strategy for Kleefstra syndrome, a rare disorder caused by EHMT1 gene haploinsufficiency. The project aims to restore essential protein levels in the brain using programmable RNA therapy.
The Alliance for Clinical Trials in Oncology is spotlighting new trials for colorectal cancer in March, focusing on early detection methods and treatments for treatment delays and loss of appetite. The trials aim to improve patient outcomes, with several enrolling patients with newly diagnosed colon or rectal cancer.
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.
Dr. Mirko Manchia's groundbreaking research identifies genetic markers predicting treatment response in bipolar patients, enabling precision medicine approaches to transform psychiatric care. He envisions a future where genetic testing becomes routine in psychiatric care.
A new gene therapy delivery device called NANOSPRESSO could revolutionize how hospitals treat rare diseases by allowing them to create personalized nanomedicines in-house. This democratized approach to precision medicine could boost access to low-cost bespoke gene and RNA therapies, especially in low-resource settings.
Scientists have uncovered a previously unknown mechanism explaining how neurons survive botulinum neurotoxin type A exposure. The research found that specific tRNA fragments interact with key proteins and RNA molecules involved in regulating ferroptosis, supporting neuronal survival by blocking cell death pathways.
Researchers identified unique biological mechanisms that cause premature aging in the brains of individuals with alcohol, opioid, and stimulant use disorders. Different substances appear to hijack the brain's natural aging rhythm through distinct molecular mechanisms, though some pathways are shared across different substance types.
A study found that genetic predisposition to higher muscle strength is associated with lower all-cause and cardiovascular mortality in aging men. The association remained significant even after adjusting for lifestyle factors such as smoking and body mass index.
A new study reports on five patients with Canavan disease who have a novel variant identified through targeted long-read sequencing, revealing an SVA_E retrotransposable element that disrupts gene function. The findings enhance genetic diagnostics and enable improved guidance for families.
Researchers used umbilical cord blood to analyze genetic changes linked to metabolic dysfunction in children. The study found multiple regions of altered DNA associated with metabolic issues later in childhood.
A recent study published in Current Neuropharmacology suggests a potential link between Glucagon-like Peptide-1 (GLP1) receptor agonists and depression, particularly in individuals with low dopamine function. The authors urge caution and recommend genetic testing to identify individuals at risk before prescribing these medications.
A new genomics tool, refget Sequence Collections, streamlines genomic research by standardizing reference sequences. This enables scientists to compare data more efficiently and accelerate medical breakthroughs.
Ferhaan Ahmad, a renowned cardiovascular researcher and clinician, has been selected as the new Editor-in-Chief of Circulation: Genomic and Precision Medicine. He brings extensive expertise in cardiovascular genomics and leadership skills to drive scientific advances in the field.
A recent study has made a breakthrough in understanding the genetic underpinnings of osteoarthritis by identifying 962 genetic markers associated with the condition. The researchers found 513 new genetic markers that were not previously reported, providing potential new drug targets and opportunities for repurposing existing medications.
Researchers used CRISPR interference to examine every gene in the human genome and discovered a new set of genes contributing to Parkinson's disease risk. The study identified the Commander complex, which regulates lysosomal function and is implicated in PD risk, offering opportunities for new treatments.
Researchers have identified nearly 300 genetic disorders that can be treated during pregnancy or in the first week of life, offering unprecedented opportunities for early intervention. The 'treatable fetal findings list' aims to improve diagnosis and enhance treatment options for fetuses with these conditions.
Novel biomarkers like miRNA-34a link anthracyclines to cardiotoxicity, while stem cell therapy and nanotechnology offer potential for prevention and treatment. Traditional strategies have limitations, but new approaches hold hope for improved patient outcomes.
A new study found that genetic predisposition to sedentary behavior is associated with a higher risk of developing the most common cardiovascular diseases. Individuals with the highest genetic predisposition accumulated more daily sedentary time and had a 20% higher risk of cardiovascular diseases.
A national study in Australia aims to understand the genetic cause of rare diseases, improving diagnoses and treatment options for those affected. The study is recruiting Australians with a known or suspected rare genetic disease to gather information and connect them with future research opportunities.
The Tinker Tots project enables participants to engage with ethical dilemmas in embryo selection, providing valuable insights into human values and decision-making. By navigating rounds of embryo selection dilemmas, users weigh and prioritize traits and conditions, revealing patterns in their thought processes.
A study found that agricultural antifungals, like TBZ, can cause genomic changes in the infectious yeast Candida tropicalis, increasing its resistance. This increase in resistance poses a growing concern for human infections, as many pathogens are becoming resistant to antifungal medicines.
A new study published in Nature reveals critical insights into how spina bifida develops, identifying specific steps in embryogenesis that contribute to the condition. The research also suggests a potential link between new DNA mutations and disease risk, opening the door for future treatments such as gene therapy and targeted drugs.
A multidisciplinary team has generated an atlas to optimize gene therapy delivery, providing researchers with insights into the most effective viral vectors for specific tissues. The study identifies AAV4 as a promising vector for vascular and pancreatic applications, offering new possibilities for treating conditions like diabetes.
A study found that genetic variants in three genes (CYP2C19, CYP2D6, SLCO1B1) can lead to adverse reactions in up to 75% of cases. This could allow for personalized prescribing and reduce ADRs by three quarters.
A new study emphasizes the importance of understanding genetic underpinnings of psychiatric disorders for mental health providers. Key findings highlight the application of genetic information in risk assessment, diagnosis, treatment selection, and patient education, while also considering ethical considerations.
A study published in JAMA Network Open found that more than 90% of participants with medically important genetic findings were unaware of their risk prior to participation in Geisinger's MyCode program. The initiative has disclosed genetic results to over 354,000 participants, who can now take proactive steps to prevent or detect disease.
Jessica Adsit, a board-certified genetic counselor, received the 2025 ACMG Foundation Genetic Counselor Best Abstract Award for her platform presentation on next-generation sequencing in blastocyst stage embryos. The award celebrates contributions to research and clinical care made by licensed genetic counselors.
A study found that adding blood metabolite data to genetic risk scores improves glaucoma prediction accuracy, particularly in individuals at high genetic risk. Higher levels of lactate, pyruvate, and citrate were associated with a reduced risk of glaucoma.
A genomics blood test has improved diagnosis and treatment plans for children with rare diseases, including epilepsy. The test provides genetic diagnoses for 43% of children in under three weeks, leading to significant impacts on treatment.
A comprehensive genetic representation for over 2.5 billion people has been created, capturing genetic diversity and variations found in diverse populations. This pangenome reference aims to enhance early diagnosis and personalized treatments for genetic diseases prevalent in the region.
A global genetic study has discovered new links between predicted height and diseases, including mental disorders and the endocrine system. The research used data from diverse ancestries and found significant associations that could improve early diagnosis and patient care.
A study uncovered new genetic clues explaining why some prostate cancers grow slowly while others become life-threatening, identifying 223 mutations that determine tumor progression. The research shows germline and somatic variability work together to initiate and drive prostate cancer.
Researchers at the University of Malaga have identified multiple genetic variants causing Familial Chilomicronemia Syndrome, a rare disease characterized by high triglyceride levels. This discovery enables accurate clinical diagnosis and treatment selection for patients with this condition.
A new study discovered rare gene variants in Asian Indian people that increase the risk of Type 2 diabetes, providing a window into targeted treatment. The findings suggest that these variants can be used to create personalized medications that target specific proteins or pathways.
Professor Collen Masimirembwa receives Precision Medicine World Conference Pioneer Award for his groundbreaking work in pharmacogenomics, advancing personalised medicine and tailoring treatments to individual genetic profiles. His research has improved patient outcomes and saved lives by uncovering critical issues with HIV medications.
A new genetic medicine has been developed to treat a rare genetic deficiency affecting the AIPL1 gene, causing severe retinal dystrophy. The treatment involves injecting healthy copies of the gene into the retina through keyhole surgery, resulting in dramatic improvements in sight for four young children.
A public consultation in the UK found that 90% of respondents would agree to genetic testing for personalized medication use. The study aims to better understand the public's views on pharmacogenetics and its potential impact on healthcare.
Scientists at Duke University have discovered a master epigenetic switch that can be activated using CRISPR to compensate for missing genes in Prader-Willi syndrome. This approach could potentially treat the disease by turning on naturally suppressed genes from one parent, addressing the underlying genetic defect.
A new study from the University of Pennsylvania School of Medicine has created a comprehensive genetic map of over 1,000 genes influencing kidney function, providing new insights into the causes of kidney disease. The researchers discovered that proximal tubule cells are a key
A groundbreaking study analyzed data from over 78,000 cancer patients to identify nearly 800 genetic changes impacting survival outcomes. The research also discovered genes significantly associated with survival in various cancers, such as breast, ovarian, skin, and gastrointestinal cancers.
A new 3D bioprinted gastric cancer model successfully replicates the unique characteristics of individual patients' tissues, predicting drug responses and prognosis with high accuracy. This innovative platform enables rapid evaluation within two weeks, contributing to personalized cancer treatment development.
Researchers at the University of Maryland discovered multiple pathways for dsRNA molecules to enter cells, challenging previous assumptions about RNA transport. They found that a protein called SID-1 plays a key role in regulating genes across generations, which could lead to better targeted treatments for human diseases.
Researchers at Umeå University have developed next-generation chemo-optogenetic tools that enable precise control of proteins in real-time in living cells. The new molecular glues can be turned on or off using light, allowing for multiple activation cycles and overcoming limitations of previous systems.
A European consortium has successfully diagnosed over 500 patients with unknown conditions, including rare neurological disorders and hereditary cancers. The diagnoses were made possible by extensive collaboration and reanalysis of existing genome data.
The new NCCN Guidelines for Patients: Genetic Testing for Hereditary Breast, Ovarian, Pancreatic, and Prostate Cancer provide evidence-based recommendations for assessing and testing for inherited genetic mutations. The resource aims to inform individuals about their cancer risks based on personal or family history.
Researchers have identified a 177-gene signature common to metastasis across cancers, allowing for personalized risk assessment and potential therapies. The discovery could lead to broader treatment options, faster drug access, and improved patient outcomes.
Researchers have developed a new genetic engineering tool, mvGPT, that can precisely edit genes, activate gene expression, and repress genes all at the same time. The technology has shown promise in treating genetic diseases such as Wilson's disease and type I diabetes by targeting multiple genetic conditions simultaneously.
The ChiTaRS 8.0 database is the world's largest collection of chimeric genes found in humans with cancer and other chronic diseases. It enables the precise adaptation of treatments to specific cancer types, improving treatment success and minimizing side effects.
BGI Genomics strengthens ties with Saudi Arabian partners to advance public health development through genomics technology. The company aims to apply its expertise in precision medicine to support Saudi Arabia's Vision 2030 goals.
The partnership aims to improve disease screening and prevention, as well as talent training and medical infrastructure development in Punjab Province. BGI Genomics will focus on localized innovation and genetic technology applications to support precision medicine services in Pakistan.