New Research Project to Examine Connections Between Autism and Sensory Hypersensitivity
The Auerbach Lab at the Beckman Institute for Advanced Science and Technology has announced a new research project to examine the connections between autism and sensory hypersensitivity. Lead investigator Benjamin Auerbach emphasized the need to understand the pathways from genes to symptoms, particularly in the auditory system where sensory hypersensitivities are prevalent in individuals with ASD. The research holds promise for uncovering underlying mechanisms that link genetics, neural circuits, and sensory hypersensitivity in individuals with autism spectrum disorders.
First DNA study of ancient Eastern Arabia reveals resistance to malaria
The first DNA study of the ancient population of Eastern Arabia has revealed that people developed resistance to malaria following the appearance of agriculture in the region around five thousand years ago. The study also provides unprecedented insights into human history and disease progression in the region, shedding light on the ancestry of ancient populations and the prevalence of the malaria-protective G6PD Mediterranean mutation. The research, published in Cell Genomics, involved experts from multiple universities and research centers.
Researchers Discover ‘Gene of Prejudice’ Shedding Light on Human Personality Variations and Autism Spectrum Disorders
Researchers at the Sanford Stem Cell Institute at the University of California San Diego have discovered a ‘gene of prejudice’ that sheds light on human personality variations and provides insights into autism spectrum disorders. The findings, published in Cell Reports, could pave the way for treatments to improve the social functioning of individuals with autism.
Ancient DNA Study Reveals Down Syndrome and Edwards Syndrome in Infants
Groundbreaking study reveals the presence of Down syndrome and Edwards syndrome in ancient DNA, shedding light on the treatment of individuals with genetic conditions in premodern societies. Lead author emphasizes the level of acknowledgment and inclusion within their communities. Diagnosing Down syndrome in ancient remains poses challenges due to the variability of the condition. These findings offer valuable insights into the historical care and treatment of individuals with genetic conditions.
The Vanishing Y Chromosome and the Future of Men
The Y chromosome is degenerating and may disappear in a few million years, leading to our extinction unless we evolve a new sex gene. A recent paper in Proceedings of the National Academy of Science shows how the spiny rat has evolved a new male-determining gene. The article also explains how the Y chromosome determines human sex and the disappearing Y chromosome in mammals.
Genetically Edited Pigs Immune to Deadly Disease Spark Ethical Concerns
US farmers are on the verge of introducing genetically edited pigs immune to porcine reproductive and respiratory syndrome (PRRS), potentially saving millions for the industry. Despite concerns from animal rights groups, the use of CRISPR technology has allowed for the creation of PRRS-resistant pigs, with regulatory approval anticipated as early as next year. Critics argue that improving living conditions for livestock should be prioritized over genetic modifications.
Discovery of Male Fertility Gene
Scientists have discovered a male fertility gene, SPOCD1, that works in partnership with the C19orf84 gene to protect early-stage precursors to sperm cells from damage. Understanding how these genes work together could explain the basis of severe cases of male infertility. The findings, published in Molecular Cell, shed light on the genetic causes of conditions like cryptozoospermia and azoospermia, which affect around one percent of men.
Study in Nature Reveals Genetic Determinants of Micronucleus Formation and Implications for Human Disease
A recent study published in Nature has uncovered crucial insights into genomic instability and its implications for various diseases. The research delved into the mechanisms underlying the sequestration of DNA in aberrant extranuclear structures known as micronuclei (MN), associated with genomic instability, aging, and diseases linked to DNA damage and mitotic chromosomal imbalances. The study identified 145 genes that play a significant role in either increasing or decreasing MN formation, many of which have orthologues associated with human diseases, highlighting the potential clinical relevance of the findings. The identification of Dscc1 as a gene whose loss significantly increases MN formation and the validation of the DSCC1-associated MN instability phenotype in human cells offer insights into potential therapeutic avenues for addressing genomic instability.
New Genetic Analysis Reveals Insights into Beethoven’s Battle with Hearing Loss
Discover the latest revelation about composer Ludwig van Beethoven’s health, shedding light on his progressive hearing loss. Genetic analysis on authenticated hair samples has provided unprecedented insights into Beethoven’s enduring struggle with hearing loss, offering a new perspective on his medical history and musical career.
Genomic Data in the All of Us Research Program
The All of Us Research Program is making significant strides in mapping the genetic basis of human disease, with a focus on diversity and inclusion. The latest release includes 245,388 clinical-grade genome sequences, with a high percentage of participants from historically under-represented communities and racial and ethnic minorities. The comprehensive dataset has identified over 1 billion genetic variants, with coding consequences for over 3.9 million, and is publicly available for researchers to access. This diverse dataset is expected to advance the promise of genomic medicine for all.