Articles tagged with Medical Genetics
A $7.6 million NIH grant will advance understanding of polyaminopathies, a group of rare genetic disorders affecting neurodevelopmental presentations. The grant will help identify new approaches to molecular diagnosis and care, as well as train the next generation of rare disease researchers.
A novel autologous gene therapy for Wiskott-Aldrich syndrome has demonstrated durable clinical benefits in a phase 3 study, with 96% survival at 1 and 5 years. The treatment, etu-cel, has also reduced severe infections and moderate-to-severe bleeding events.
Researchers have made incremental progress in understanding hypermobile Ehlers-Danlos Syndrome, a genetic disorder characterized by unstable joints and chronic pain. Studies have revealed correlations between hormone levels and symptom severity, as well as the relationship between hypermobile individuals and sleep apnea.
Researchers discovered FMN1 gene required for hearing in humans and mice, revealing a previously unknown role for formin-1 in maintaining inner ear structure. The study also found a connection between FMN1 and pigmentation through a molecular complex involved in melanosomes, leading to hearing loss and altered skin and hair color.
Researchers found that meal timing programs the liver's daily rhythms and can have serious metabolic and health consequences when out of sync. The liver uses food signals to activate metabolic pathways, which can conflict with the body's natural circadian clock, leading to health issues.
Prostate cancer affects 1 in 8 men, with 60% diagnosed in men 65 and older. Clinical trials like Alliance's help improve early detection and treatment, reducing mortality rates by half since 1993. These trials also explore new treatments and survivorship strategies.
A new research tool, PGS-TRI, analyzes family data to understand how genetics and environment contribute to autism risk. The tool provides a more precise look at how 'nature' and 'nurture' interact within families, allowing researchers to better understand the complex factors that shape a child's health.
A new study reveals that fluctuations in estrogen influence brain connections in rats, using a specialized imaging technique called magnetic resonance elastography (MRE). Researchers hope to translate the findings to humans, exploring how hormonal changes affect brain health in women, particularly during menopause.
Researchers have developed a machine learning model that can help clinicians assess uncertain variants in prenatal genetic testing, providing more accurate diagnoses and clearer information for families. The approach uses tissue-agnostic episignatures to overcome limitations in epigenetic testing.
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 at La Jolla Institute for Immunology discovered that immune cells in lung tissue express genes associated with autoimmune disease risk. These tissue-resident immune cells may actively drive the development of autoimmune diseases, particularly in women.
The IOF Musculoskeletal Rare Diseases Training Course bridges latest scientific advances with current clinical guidance, covering disorders-specific programs. Clinicians can access high-quality educational content at their own pace to deepen expertise in rare skeletal conditions diagnosis and management.
Researchers utilized a large healthcare system biobank to identify individuals carrying rare copy number variants linked to neurodevelopmental disorders. The study found significant value in direct phenotyping, providing practical benchmarks for implementing recall-by-genotype studies in diverse healthcare systems.
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 are exploring innovative technologies to improve disease diagnosis and treatment. AI models have shown promise in speeding up detection and treatment discovery for rare diseases. Meanwhile, electronic noses are being developed for non-invasive cancer screening.
Researchers at UT MD Anderson Cancer Center have made significant progress in treating rare brain infections with a virus-specific T cell therapy, achieving an overall response rate of 56.8% in patients with progressive multifocal leukoencephalopathy (PML). The center also introduced a novel CAR T cell therapy for hard-to-treat kidney ...
Elaine S. Jaffe, a distinguished investigator at the NCI Center for Cancer Research, has transformed our understanding of lymphoid malignancies through her groundbreaking research. Her work has led to significant advancements in disease classifications, diagnosis, and treatment.
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.
A new study analyzing 86,000 Norwegian children found that the association between parental body mass index (BMI) and childhood BMI is largely explained by shared genetics. Genetic effects accounted for an estimated 79% of the statistical association between a mother's BMI and her child's BMI at age 8.
Researchers discovered Paneth cell metaplasia can act as a protective response in ulcerative colitis by promoting healing and regeneration of the intestinal lining through REG3A. However, persistent changes may still carry risks, including increased cancer risk.
Scientists have identified a unique chimeric RNA called UBA1-CDK16 that plays important roles in women's blood cell development and disease severity. The findings suggest the chimeric RNA may serve as a natural brake to protect women from excessive autoimmune activity.
A large-scale European study found that screening people with Li-Fraumeni syndrome can significantly reduce healthcare costs. The study showed that prevention costs per patient were roughly nine times lower than treatment costs, and patients who underwent regular screening had better clinical outcomes.
The Sylvester Cancer Institute has made significant breakthroughs in multiple myeloma treatment with the immunotherapy drug teclistamab, which extends remission and survival rates. Additionally, research has shed light on glioma evolution after treatment and identified genetic markers for aggressive solitary fibrous tumors.
Researchers emphasize the need for large-scale population studies to assess the risks of newborn genome screening and minimize overdiagnosis. The study highlights that most genetic research has been conducted in individuals with a condition or high-risk family, resulting in underestimated risk estimates.
A large-scale Phase 3 trial of CRISPR therapy has shown an 87% reduction in attacks for patients with hereditary angioedema. The treatment also improved quality-of-life scores and reduced the need for on-demand medication, paving the way for future genetic therapies.
Researchers describe a novel disorder caused by biallelic loss-of-function variants in the TMEM63B gene, resulting in severe lung disease. The disorder presents with early onset respiratory distress, lung abnormalities, and developmental delay but no epilepsy.
The HUG-CELL project aims to identify couples at risk of transmitting recessive genetic disorders and Fragile X syndrome. The initiative will create a large genetic database for Brazil to determine the prevalence of hereditary genetic diseases and develop 'risk calculators' based on the diversity of the Brazilian population.
A new report describes a novel disorder caused by biallelic loss-of-function variants in the TMEM63B gene, resulting in severe lung disease. The study identified five individuals from four unrelated families with similar symptoms of early onset respiratory distress, lung abnormalities, and developmental delay.
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...
The study found that population-based pathogenic variant testing reveals different subsets of high-risk women than clinical risk factors and polygenic risk scores. This highlights the importance of incorporating PV testing into risk-based screening for breast cancer.
Researchers found that the right ventricle is better able to withstand loss of blood perfusion and oxygen supply during cardiac arrest, leading to longer preservation of its native electrical activity. The study's findings support the use of surface ECG signals to predict neurological recovery after hospital admission.
A new study by the University of Southampton has found that reusable catheters are just as safe for patients as single-use ones and do not increase the risk of urinary tract infections. The study followed hundreds of patients for a year and discovered that those who tested reusable catheters used 35 per cent fewer antibiotics.
A study published in Chinese Neurosurgical Journal reports KRAS gene overexpression associated with brain arteriovenous malformation (bAVM) pathogenesis. The research found altered gene expression profiles linked to cell adhesion, signaling, and mitochondrial function, suggesting KRAS-driven molecular alterations play a role in bAVM de...
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.
A major international study has identified a genetic contributor to juvenile glaucoma, which can affect people before the age of 40. The study found that individuals with a specific genetic duplication have an increased risk of developing the condition, and may benefit from routine testing.
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.
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.
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.
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.
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...
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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...
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.
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.
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...
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.
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.
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.
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.
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.