Genomic Future

Ludwig van Beethoven is one of the most famous and revered composers in the history of music. Today researchers from the Department of Archaeology at the University of Cambridge, the Institute for Archaeological Sciences at the University of Tübingen, and the Max Planck Institute for the Science of Human History in Jena, Germany, published genomic analyses of hair samples from Beethoven himself, shedding new light on his genetic makeup and potential health conditions.  The study involved genomic analyses of eight locks of hair attributed to Ludwig van Beethoven, with researchers confirming the authenticity of five of them and sequencing Beethoven's genome to a high coverage of 24-fold. The findings revealed that Beethoven had a genetic predisposition for liver disease (polygenic risk score (PRS) placed him within the 96th risk percentile, he was homozygous for the variant consistently implicated as the most strongly associated locus for liver cirrhosis in GWASs, at rs738409 in PNPL...

Over the past 20 years, since the first draft of human genome sequence was released, genetic research has made tremendous strides, has had a major impact on our understanding of biology and disease, and continues to be a rapidly growing and exciting field.  As genetics shifted from the determination of monogenic disorders to focusing on the entire genome, it led to the identification of genetic risk factors for a wide range of diseases and conditions, including cancer, heart disease, diabetes, and mental health disorders. Genetic variants that influence complex traits, such as intelligence, personality, and athletic ability, were also identified.  Behavior genetics experienced rapid advancement, and there has been an exponential increase in use of direct-to-consumer genetic feedback platforms. CRISPR/Cas9 emerged as a new tool with many potential applications, including gene therapy to treat human diseases.  Studies of epigenetics in gene expression led to the deve...