Articles tagged with Human Genetics
Researchers identified changes in RNA molecules involved in cell's splicing machinery, causing retinitis pigmentosa in ~30-40% of patients with genetic disorder. Variants in five non-coding RNA genes were found to be responsible for the disease, offering a new diagnostic pathway for families worldwide.
The study created a critical framework for understanding the architecture of the genome and its association with gene function in cells. The 4DN Consortium integrated data from over a dozen techniques to compile an extensive catalogue of looping interactions between genes and regulatory elements.
A comprehensive genetic investigation by Dr. Feng Liu and collaborators identifies shared genetic loci between schizophrenia and osteoporosis, suggesting overlapping biological pathways. The study found that psychiatric patients face elevated fracture risks due to these molecular connections.
A newly identified genetic variant has been found to reduce the risk of leukemia by slowing the growth of mutated blood stem cells. The variant, rs17834140-T, weakens the activity of a key gene in stem cell maintenance, leading to suppressed competitive growth of mutant stem cells.
Professor Dan Stein was a visionary who bridged neuroscience, clinical care, and philosophy to transform psychiatric research in Africa. His integrative approach produced scholarship of extraordinary range, with over 1,600 peer-reviewed publications and a Google Scholar h-index exceeding 220.
A new study reveals significant gaps in genetic evaluation and testing for Black and low-income patients, despite higher rates of testing after receiving results. Researchers call for expanded workforce training, diversification, and policy changes to build equitable systems.
BGI Genomics convened its 2025 European Partnership & Networking Summit in Budapest, fostering innovation, collaboration, and growth. The event introduced its comprehensive NGS solution, Gensiro, integrating AI and automation to streamline laboratory workflows.
A new strategy for studying Hirschsprung disease in mice has revealed the interactions between multiple genes that control the condition. Researchers found that combining weaker mutations in genes RET and EDNRB creates a more realistic model of the disease, with key similarities to human HSCR.
Researchers have developed the Joint Open Genome and Omics Platform 1.0 (JoGo 1.0), which organizes human gene types into four levels based on global frequency. The database catalogs 19,194 human genes with a novel naming system, enabling secure integration of sensitive datasets and linking each gene type to public resources.
A new study identifies genetic variants influencing both addiction risk and lower educational attainment. The researchers found a subset of genetic variants linked to substance use disorders and poorer health outcomes.
A new study developed a powerful computational method, FAME, to detect and quantify genetic interactions. The researchers found 16 instances of interactions on traits such as cholesterol and liver enzymes, which were larger than the effects identified by examining individual variants alone.
A new study suggests that genetic differences passed down from ancient human ancestors and exposure to common chemicals could explain why some women are more likely to develop endometriosis. Researchers identified six genetic variants linked to the condition, which also occur in genes sensitive to modern pollutants.
A new study reveals that Homo sapiens evolved in southern Africa for at least 200,000 years, contradicting previous theories. The analysis of 28 ancient genomes found genetic adaptations that shaped the species and unique variants linked to kidney functions and cognitive evolution.
A new method developed by Penn State researchers improves the analysis of genetic data, identifying more genes associated with neurodegenerative diseases like Alzheimer's and ALS. The technique, BASIC, integrates both bulk tissue samples and single-cell data to uncover shared genetic effects across different cell types.
Researchers identified 12 genes linked to canine behaviour also associated with human traits like anxiety, depression, and intelligence. The study provides insights into understanding dog emotional worlds and tailoring training or care to suit their needs.
A new genetic study found that people without prior suicidal thoughts or behaviors have fewer psychiatric diagnoses and genetic risk factors for psychiatric conditions compared to those with known suicidality. This suggests that conventional wisdom on how to reduce suicide may need to be rethought.
The update provides the most detailed look at African ancestry on the market, helping individuals with African heritage bypass historical 'brick walls'. With over 250 high-resolution genetic groups across Africa, members can now explore their West African ancestry and connect with specific groups in Nigeria, for example.
Researchers have discovered that optical genome mapping can reveal hidden causes of pregnancy loss, including chromosomal changes in genes known to be linked to recurrent pregnancy loss. The study found structural changes in the genome that were missed by traditional genetic sequencing methods.
Researchers used human-induced pluripotent stem cell-derived kidney organoids to model nephronophthisis, revealing the Hippo signaling pathway's role in fibrosis. Inhibiting this pathway with drugs like verteporfin shows promise as a treatment option.
A landmark study has used genome sequencing to quantify how much trait differences between people can be explained by genetic factors. The research found that genetic factors can explain an average of 30% of differences between people for characteristics such as height, body mass index, and cholesterol levels.
Researchers successfully identified the skeletal remains of Duke Béla, a member of the Árpád and Rurik dynasties, using a combination of genetic and dental analyses. The study reveals that Béla was attacked by multiple individuals, consuming a diet rich in animal protein.
A team of scientists at the University of Seville identified a key process protecting DNA integrity in reproductive cells, preventing genetic defects during egg formation. The study found that phosphorylation acts as a 'switch' against DNA damage, allowing the genome to repair itself properly during meiosis.
Researchers identified 13 genes linked to obesity across six continental ancestries, including five previously unknown. These genes, expressed in brain and adipose tissue, are associated with increased risk of severe obesity, Type 2 diabetes, and other health problems.
Researchers have identified a new genetic marker, HLA-A*34:02, which can predict severe gout drug reactions in US patients when combined with HLA-B*58:01. This discovery could improve the safety of allopurinol for millions by expanding genetic screening.
A study published in the Journal of Neuroscience found that mutations in the CHRNA3 gene are associated with lowered sensitivity to alcohol and delayed avoidance behavior. This suggests that normal function of the chrna3 gene helps control alcohol exposure, leading to individual differences in alcohol sensitivity.
The Global Pathogen Analysis Platform (GPAP) will enable low- and middle-income countries to conduct research and surveillance of infectious diseases independently. The platform aims to prevent disease outbreaks from developing into pandemics by detecting genetic sequences of potential pathogens.
A new human lung alveolus chip model enables investigation of viral replication, inflammatory responses, and genetic off-target effects of a novel pan-influenza CRISPR therapy. The study achieved significant reductions in virus load and host inflammatory response after a single administration.
Dr. Amin's transformative insights reshape international understanding of depression genetics, identifying novel therapeutic targets and biomarkers for diagnosis and treatment. Her systemic disease model challenges traditional views of depression as a brain disorder.
The ASHG 2025 Annual Meeting will highlight advancements in rare disease research through long-read sequencing and collaboration. Genetic mechanisms of cancer risk and the clinical impact of latest epilepsy neurogenetics advances will also be showcased, along with decoding human aging and AI-powered genomics.
A recent study found that a person's genetic background, rather than a single gene, plays a key role in the development of complex disorders. The research revealed patterns of secondary variants that can modify the impact of primary genetic variants on clinical outcomes.
Scientists have developed a DNA nanospring to measure the force of protein motors like KIF1A, which can lead to improved diagnosis and treatment of diseases. The technique uses fluorescent imaging to detect the stretching of the DNA nanospring, allowing researchers to accurately measure the motor's power.
A new report highlights the potential of precision medicine to improve obesity prevention and treatment by identifying high-risk individuals and tailoring interventions. The authors emphasize the need for rigorous clinical trials to empirically determine the effectiveness of precision-based treatments.
A team led by Dr. Betty Tsao seeks to uncover the genetic drivers of childhood-onset systemic lupus erythematosus (SLE) using DNA sequencing. By analyzing more than 90 families with a history of SLE, they hope to identify rare mutations that could lead to new treatments.
Researchers at CNIO have created a 'human repairome', a catalogue of 20,000 DNA 'scars' that reveal how genes affect DNA repair. This information can help determine the best treatment for each cancer type and overcome resistance to therapy.
A major albinism gene's exon skipping levels control human skin and hair color diversity. Researchers found that OCA2 exon 10 skipping contributes to hypopigmentation, shedding light on the genetic basis of human pigmentation.
Researchers at Stowers Institute for Medical Research have identified the precise location where human chromosomes break and recombine to form Robertsonian chromosomes. The study reveals that repetitive DNA sequences play a central role in genome organization and evolution, explaining how these rearrangements form and remain stable.
A recent study from the University of Illinois Urbana-Champaign sheds new light on the origin and evolution of the genetic code, providing valuable insights for genetic engineering and bioinformatics. The research team found that the genetic code's origins are mysteriously linked to the dipeptide composition of a proteome, with dipepti...
Genomic imprinting discovered by Davor Solter and Azim Surani reveals maternal chromosomes contribute essential information missing in paternal chromosomes. This phenomenon, coined genomic imprinting, involves tiny methyl groups attached to DNA's four bases regulating fetal growth and development.
A recent sale of genetic data by 23andMe highlights critical gaps in legal protection for genetic information in the US. The authors argue that stronger safeguards are needed to protect consumers from potential misuse and exploitation of their genetic data.
Researchers developed a computational tool to analyze mRNA stability, identifying genes involved in immune system function and linked to autoimmune diseases. The study suggests that mRNA stability may be a key mechanism behind many immune-related diseases.
The study reveals that Slavic groups originated in the region between the Dniester and Don rivers and migrated across Central and Eastern Europe. The genetic data show a mosaic of different groups adapting to local contexts, with no significant sex bias in migrations.
Researchers found 22 previously unknown genetic variants associated with type 2 diabetes by considering participants' hormone levels. The analysis suggests that sex hormone levels interact with genes to increase the risk of developing the disease.
Researchers found 148 fungi-associated genetic variants linked to 9 fungal taxa and associated with chronic disease risk. The study sheds light on the human genetic determinants of the mycobiome, a previously understudied group of gut microorganisms.
Researchers at Salk Institute discover a new microprotein, SLC35A4-MP, that regulates mitochondrial structure and function in brown fat tissue. The study reveals the microprotein's role in maintaining healthy cellular metabolism and regulating body temperature.
Researchers have developed 'molecular scissors' that can precisely and permanently disable the hepatitis B virus's hidden genetic material. The treatment has shown promising results in laboratory tests and HBV-infected mice, with a 99% reduction in circulating viral DNA. This innovation represents a significant step towards a functiona...
Researchers mapped the surface envelope glycoprotein of human endogenous retroviruses, opening doors to new diagnostic and therapeutic opportunities. The study revealed specific antibodies that target the viral proteins, potentially leading to new cancer immunotherapies and treatments for autoimmune diseases.
A new study found that genetic variants in the IL6 gene are associated with a reduced lifetime risk of coronary heart disease, stroke, and peripheral artery disease. These variants also reduce the risk of pneumonia and sepsis, countering fears about impaired immune response.
Dr. Rentería's Australian Parkinson's Genetics Study (APGS) includes nearly 20,000 volunteers, generating a comprehensive genetic database to understand Parkinson's disease variability. He incorporates wearable sensors and digital biomarkers to address clinical heterogeneity.
Researchers uncover how EZH2 gene mutations sabotage healthy copy, leading to intellectual disability and overgrowth, with implications for related diseases and cancer. The study provides new insights into chromatinopathies and potential targeted therapies.
A large-scale study published in PLOS Medicine found no association between early life antibiotic exposure and the development of autoimmune diseases in children. Researchers analyzed data from over 4 million Korean children and discovered no increased risk of Type 1 diabetes, Juvenile idiopathic arthritis, or other autoimmune conditions.
A new study found that a gene passed down from extinct archaic humans, Denisovans, is present in modern Latin Americans with Indigenous American ancestry and provides an adaptive advantage. The researchers also discovered the gene's presence in ancient individuals excavated at archeological sites across North and South America.
A new method called Causal Pivot detects hidden genetic drivers and subgroups patients by true biological causes of their illnesses. The tool paves the way for major advances in personalized genetic medicine by revealing genetic "routes" into diseases.
Researchers at the University of Waterloo have developed a novel method using modified M13 bacteria to deliver targeted gene therapies for genetic disorders. This approach shows promise as a cost-effective alternative to current methods, which can be expensive and trigger toxic side effects.
A recent study reveals that ORC2 subunit regulates epigenetics and gene expression by compacting chromatin and attracting repressive histone marks at some sites, but activating gene expression at others. This regulation also prevents CTCF binding at certain sites, leading to changes in chromatin structure and gene expression.
An international team reconstructs the genetic interactions of populations in the Southern Caucasus over time, showing a mostly constant ancestry profile. Evidence of migration from neighboring regions is also found, with notable instances of cultural adoption and genealogical links to Central Eurasian Steppe populations.
Researchers at Harvard Medical School found that lithium loss in the brain is an early change leading to Alzheimer's, while a novel lithium compound can reverse memory in mice. The study suggests a new theory of the disease and a potential strategy for diagnosis and treatment.
A new study found that kids of obese parents are more likely to have obesity due to inheriting related genes. The study suggests that a mother's BMI may be particularly important in determining a child's weight, both through direct genetic inheritance and indirect nurture effects.
A new study found that mothers' genetics may have a greater impact on their children's weight than previously thought. Researchers analyzed genetic and health data from over 2,600 UK families to examine the association between parental BMI and child birthweight, BMI, and diet.
Researchers at Salk Institute launched a machine learning framework called ShortStop to explore overlooked DNA regions and discover microproteins with potential roles in disease. The tool identified 210 new microprotein candidates in lung cancer data, including one validated target for therapeutic treatment.
Researchers uncover more clues about the risk conferred by variants in the MUTYH gene, which can cause abnormal growths and increase colon cancer risk. The study's high-throughput functional analysis method accurately sorts variants into functional and non-functional categories.