John Lehr’s Post

Recent studies have shown that the genomes in each of our cells are not static but are continuously changing because of the somatic mutations that occur as we develop and age. With the evolution of more accurate methods of single-cell sequencing, we now know that those somatic mutations are present at higher levels than previously anticipated. The question has become: are those mutations just passengers of life with little consequence, or do they contribute to the formation of human diseases? Dr. Charles Gawad explores this question, its implications, and research trends in the January edition of Genetic Engineering & Biotechnology News: https://lnkd.in/ei3eHAJ8

Researchers at Oxford’s Centre for Human Genetics have identified types of genetic variants that lead to a range of rare disease but are not picked up by standard genetic testing. The team, who are supported by the Oxford BRC, analysed whole genome sequencing data from the 100,000 Genomes project, looking for particular types of structural variant, called inversions, in which segments of the genetic code in DNA are reversed in the sequence, disrupting the function of the encoded gene. From 33,924 families whose genetic data were investigated, 47 inversions were identified. This led not only to a genetic diagnosis – often after many years of uncertainty – but also changes in clinical management for several affected individuals. https://lnkd.in/eTYUFEx4 Wellcome Trust Centre for Human Genetics, University of Oxford Nuffield Department of Medicine

I just published "Complexities of Allelic Expression in the Human Genome" The study of allelic expression in heterozygous loci of the human genome is a central theme in understanding the intricacies of human genetics and genomics. It unveils the complexities underlying genetic diversity, disease predisposition, and phenotypic variation. This advanced exploration transcends the foundational principles of Mendelian genetics, venturing into the realms of molecular genetics, epigenetics, and the influence of environmental factors. [read blog] #AI #genomics #oncology #pharma #biology #bioinformatics https://lnkd.in/gtZJpSzh

🔝 Finally – the use of high precision long-read sequencing in genetic diseases research is gaining ground! The Revio system is truly a Game Changer 🏆 "This global consortium brings together researchers from 15 leading genomics research institutions across 11 countries to study the value HiFi-based human genome sequencing may have in clinical research applications and to further our understanding of genetic diseases. These institutions will collaborate to develop and share best practices on data generated from PacBio Revio sequencing systems, with the goal of leveraging the comprehensiveness and completeness of HiFi genomes in human genetics research applications." https://lnkd.in/gSSrU8xU

Exciting news in genomics! 🧬 A recent study involving the Million Veteran Program has underscored the significance of genetic diversity in yielding new insights into our DNA. By analyzing genomes from nearly 636,000 veterans, the researchers discovered unique genetic variants associated with thousands of traits. This study demonstrates how including diverse populations enhances our understanding of the genetic basis of diseases, ultimately leading to more precise and effective treatments (https://lnkd.in/gHeqiap8). At Greenstone Biosciences, we are inspired by these findings and are committed to leveraging our extensive biobank of human induced pluripotent stem cells (iPSCs) to uncover similar groundbreaking insights. Our diverse repository is a crucial asset in identifying genetic targets for future gene therapies, driving forward our mission to advance the understanding and treatment of rare diseases. Together, we can unlock the potential of genetic diversity to revolutionize healthcare. #Genomics #GeneticDiversity #iPSCs #HealthcareInnovation #GreenstoneBiosciences

Our Genomic Science Specialists will be well represented at this year’s American College of Genetics and Genomics Annual Clinical Genetics Meeting (ACMG) in Toronto, Canada, with multiple presentations highlighting the diversity of genetics research conducted at Quest Diagnostics daily.  Learn more about what to expect from us at the conference below in our latest blog: #ACMGMtg24

"A team from the Institute of Human Genetics at the University Hospital Schleswig-Holstein (UKSH), the Faculty of Medicine at Kiel University and the University of Lübeck has developed an algorithm that uses machine learning to predict whether gene variants can be responsible for certain diseases. This enables better diagnoses for rare congenital diseases. By working with the algorithm, called STIGMA (the acronym stands for single-cell tissue-specific gene prioritization using machine learning), the researchers have already identified several new disease genes. Their findings have been published in the American Journal of Human Genetics." #ai #healthcare

Genetics and genomics research has the potential to transform modern medicine, offering ways to prevent and treat some of the most complex diseases. We’re already seeing how these therapeutics can change patient lives for the better. For example, in June 2023, the FDA approved the first gene therapy treatment of pediatric patients with Duchenne muscular dystrophy (DMD), meeting an urgent, and previously unmet, medical need for this devastating condition. Although great progress is being made, there are several significant challenges that stand in the way, preventing dedicated genomics and genetics scientists from advancing the field further. Read ELGA Labwater latest blog, where we explore the most pressing challenges barring the path to genetics and genomics success. https://lnkd.in/die8xCKa #elga #genetics #genomics #research #dedicatedtodiscovery

Another great interview! Dr. Chung focuses on the genetics of inborn errors of metabolism and rare diseases, and at 57:00 she also discusses several topics that are relevant to cancer genomics, and the importance of the right expertise to interpret variants. While most cancer is the result of somatic DNA changes, some cancers do have an inherited component. This is why we started CGC Genomics Consults AG: we deliver relevant clinical cancer genomics expertise whenever and wherever it's needed. #precisiononcology #cancergenomics #patientadvocacy

As scientific research begins to diversify who is being studied, new discoveries are being made—including a recent finding that a previously unknown gene variant can nearly quadruple the risk of Parkinson's disease for people of African ancestry. Advancements in genome sequencing made discoveries like this possible. "If we can then target that specific protein that's gone wrong, or specific molecule, that's the goal, to get to that level of precision," says Ekemini Riley, managing director of Aligning Science Across Parkinson's, a research initiative that helped coordinate the effort. What research goals do you hope make progress due to new advances in technology? Read the article: https://lnkd.in/e77KQrG2