genomics

Researchers have discovered evidence of Down Syndrome and Edwards Syndrome in ancient DNA, tracing back to between 2,500 and 5,000 years ago, revealing these individuals received care and were appreciated within their societies. They found burials with grave goods and within settlements, suggesting a societal acceptance, and plan to expand research on how ancient societies treated individuals with such conditions.Burial practices indicate that individuals with Down Syndrome and Edwards Syndrome were recognized as members…

Recent research on early Bronze Age burials in Luxembourg and Britain has uncovered genetic evidence of familial relationships within prehistoric communities, indicating that children were buried with their biological mothers or close relatives. This study, highlighting the transition from collective to individual burial customs among Bell Beaker communities, emphasizes the significance of kinship in their burial practices and suggests a patrilineal descent system. The image above depicts the skeletal remains of an adult…

Evidence of syphilis in ancient Brazilian bones disproves the notion that Columbus introduced the disease to Europe, indicating that syphilis-like diseases existed globally long before the 15th century. Above is a skeleton at the site in Jubuicabeira II, Brazil. Credit: Dr. Jose FilippiniScientists from the Universities of Basel and Zurich have identified the genetic traces of the bacterium Treponema pallidum in the skeletal remains of individuals who passed away in Brazil around 2,000 years ago. This finding represents…

A groundbreaking study analyzing ancient DNA has revealed instances of Down and Edwards syndrome in prehistoric human remains, dating back as far as 4,500 years. This research indicates that individuals with these conditions were valued and integrated members of their ancient societies, offering new insights into the treatment and recognition of chromosomal disorders in history. Above are the remains of individual “CRU001”, who the researchers discovered had Down syndrome. The remains were found at a site in Spain dating…

Researchers improved existing polygenic risk scores using health records and ancestrally diverse genomic data. Credit: Darryl Leja, National Human Genome Research InstituteImproved genetic tests more accurately assess disease risk regardless of genetic ancestry.To prevent an emerging genomic technology from contributing to health disparities, a scientific team funded by the National Institutes of Health has devised new ways to improve a genetic testing method called a polygenic risk score. Since polygenic risk scores have…

A groundbreaking study has uncovered 1,289 genetic markers linked to Type 2 diabetes, advancing our understanding of its genetic foundation and paving the way for personalized treatment strategies.Researchers identified over a thousand genetic markers for Type 2 diabetes, marking a significant step toward personalized diabetes management.In the largest genome-wide association study to date on Type 2 diabetes, a team of international researchers, co-led by a University of Massachusetts Amherst genetic epidemiologist, has…

You had an exclusive partnership with GlaxoSmithKline for five years, from 2018 to 2023. How successful was that?It was overwhelmingly productive. Fifty drug targets came out of it, far more than we expected. They upped it again for one more year, the sixth year, though it’s non-exclusive now. We now have the ability to mine the dataset for ourselves, as well as to partner with other groups. Both the 23andMe and the GSK team felt like there was so much in there, any one group can’t possibly mine everything. It’s a real…

A study by researchers from Mass Eye and Ear and the Broad Institute has revealed that retinal imaging combined with genetic analysis can predict the risk of developing eye and systemic diseases. Credit: SciTechDaily.comMass Eye and Ear physician-researchers show that retinal imaging can help predict a person’s risk of developing ocular, neuropsychiatric, cardiac, metabolic, and pulmonary diseases.The team also identified genetic loci associated with retinal thinning, which could help develop personalized treatment plans…

Caves and rock shelters dot the mountains in the northwestern highlands of Thailand. Over 40 in Mae Hong Son province contain wooden coffins on stilts, dating back 1,000 – 2,300 years. Credit: © Selina CarlhoffAncient DNA helps researchers elucidate the structure of a prehistoric community from Southeast Asia.A mortuary practice known as Log Coffin culture characterizes the Iron Age of highland Pang Mapha in northwestern Thailand. Between 2,300 and 1,000 years ago, individuals were buried in large wooden coffins on…

A breakthrough statistical tool by University of Chicago researchers enhances the accuracy of finding genetic variants linked to diseases, offering new insights into LDL cholesterol and potential treatments. Credit: SciTechDaily.comStatistical model developed by University of Chicago researchers incorporates genome and gene expression data to reliably identify causal genes.A new statistical tool developed by researchers at the University of Chicago improves the ability to find genetic variants that cause disease. The…