Almost every child born in the United States undergoes state-mandated newborn screening within the first 48 hours of life. The blood collected from a "heel stick" helps test for 80 different serious but treatable genetic disorders. These disorders can be either genetic (passed down in families) or congenital (present at birth). But... what if we could go further? What if we could test a newborn's entire genetic sequence? Pediatric geneticist Ingrid Holm discusses the risks, benefits, costs...

We know Homo sapiens started in Africa, but we're uncertain about how they spread. Limited fossils and data have hindered our understanding. I'll discuss popular theories about our origins and how recent genetic data from Khoe-San people in southern Africa sheds light on this. Our research suggests a complex history, with population structures dating back to about 120,000-135,000 years ago. Early populations had connections, or gene flow, for hundreds of thousands of years. These "weakly...

Are you curious about the future of medical treatments and how they might impact your health? Malcolm Moos, Jr., M.D., Ph.D., shares how cellular therapies are revolutionizing medical treatments. Explore how cells hold the potential to provide new hope for individuals facing various health challenges. Delve into the concept of personalized medicine, discover how regulatory agencies are safeguarding patients' well-being, learn the science behind cell behavior and genetics, and how these...

UC Santa Cruz scientists, along with a consortium of researchers, have released a draft of the first human pangenome—a new, usable reference for genomics that combines the genetic material of 47 individuals from different ancestral backgrounds to allow for a deeper, more accurate understanding of worldwide genomic diversity. Series: "UC Santa Cruz News" [Health and Medicine] [Show ID: 39252]

Elsy Buitrago-Delgado, Ph.D., shares how spatial analysis of RNA distribution during early mouse embryogenesis suggests that the first cell fate choice is made at the 4-cell stage. She also discusses how notch signaling regulates cell fate choices during early human development. Series: "Stem Cell Channel" [Science] [Show ID: 38888]

The Science & Technology Ethics Center (STEC) is proud to present a series of lectures and a panel discussion that explores the intersection of genomics, medical ethics, and patient rights. This thought-provoking session delves into the ethical considerations surrounding genetic testing, data privacy, and informed consent. It examines the challenges and opportunities presented by advancements in genomics and how they impact patient care. The panel will discuss the importance of advocating...

The human body is made up of billions of cells. These cells are the basic building blocks of life, and they work together to form tissues, organs, and systems that enable our body to function and carry out various activities. Each cell has its own specific function and role in maintaining the overall health and functionality of the body. From the skin to the brain, muscles to blood, and everything in between, these countless cells collaborate harmoniously to keep us alive and well, but how do...

Anthropogeny, has provided many new discoveries over the past decade, ranging from new fossil finds to ancient DNA data, including from extinct hominins. This CARTA symposium highlights where future efforts should be focused and what type of novel collaborations are most promising to improve our understanding of the human phenomenon. Evan Eichler talks about the discovery and resolution of genetic variation which is critical to understanding disease and evolution. The data suggests that...

Anthropogeny, has provided many new discoveries over the past decade, ranging from new fossil finds to ancient DNA data, including from extinct hominins. This CARTA symposium highlights where the future efforts should be focused and what type of novel collaborations are most promising for improving our understanding of the human phenomenon. Pascal Gagneux offers a zoological view of the human cultural animal. Robert Kluender talks about the evolution of language structure and the future of...

Anthropogeny, has provided many new discoveries over the past decade, ranging from new fossil finds to ancient DNA data, including from extinct hominins. This CARTA symposium highlights where the future efforts should be focused and what type of novel collaborations are most promising for improving our understanding of the human phenomenon. Terry Sejnowski discusses how large-scale neural network models have inspired major advances in artificial intelligence. Sarah Tishkoff talks on how...

As part of the 2022 Prostate Cancer Patient Conference, Dr. Jonathan Chou discusses the role of genetics and genomics in prostate cancer. Series: "Prostate Cancer Patient Conference" [Health and Medicine] [Education] [Show ID: 38560]

Africa is thought to be the ancestral homeland of all modern human populations within the past 300,000 years. It is also a region of tremendous cultural, linguistic, climatic, and genetic diversity. Despite the important role that African populations have played in human history, they remain one of the most underrepresented groups in human genomics studies. A comprehensive knowledge of patterns of variation in African genomes is critical for a deeper understanding of human genomic diversity,...

The first Neandertal DNA was recovered 25 years ago, and since then, ancient DNA has provided many surprising insights into human evolutionary history. Among these are the discoveries of the multiple admixture events among late Pleistocene humans and the remnants of archaic DNA in our own genomes. How does ancient DNA research contribute to the future of anthropogeny? In this talk, I will reflect on the findings of last quarter century of ancient DNA research about archaic humans and their...

The discovery and resolution of genetic variation is critical to understanding disease and evolution. Our most recent work sequences diverse human and nonhuman primate genomes using both ultra-long and high-fidelity long-read sequencing technologies. Advances in this area have made possible the first telomere-to-telomere assemblies of the human genome and much more complete chimp, gorilla and orangutan genomes providing new biological insights into regions typically excluded from human...

Our bodies are dynamic ecosystems housing trillions of microbes that, while invisible to the naked eye, play a critical role in shaping human health. Scientists are just beginning to understand the superpowers the microbiome holds. In this program Marina Sirota, Ph.D., explains how to use artificial intelligence to study the microbiome and better understand health and disease across the lifespan. Series: "Mini Medical School for the Public" [Health and Medicine] [Show ID: 38130]

We are experiencing an accelerated rate of loss of species due to human activities. This anthropogenic phenomenon extends beyond extinction. It encompasses an expanded loss of biodiversity as the genetic diversity of species diminish, reducing gene pools to “gene puddles.” We know details of species extinctions events from the fossil record, historical record, and from ancient DNA studies, and that historical processes shape extinction risk. Habitat loss and changing eco-environmental...

Amazing new technologies in developmental biology and genetics research are allowing scientists to begin to answer long standing questions such as – how does a single fertilized egg cell transform into a complex animal? Why does the embryo of a marine organism like a sea slug develop differently from that of a sea urchin? Join Scripps Developmental Biologist Deirdre Lyons as she describes how she and her colleagues are pushing the limits of our knowledge to understand these intriguing...

Brenna Henn (Stony Brook Univ) explores patterns of genetic diversity across Africa and models for modern human origins in this talk. She discusses whether genetic data is concordant with archaeological data and suggests directions for future research. Series: "CARTA - Center for Academic Research and Training in Anthropogeny" [Science] [Show ID: 30979]

Michele De Luca, MD, shares his research in gene therapy for epidermolysis bullosa and cell therapy for ocular burns. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 37671]

Don Cleveland, PhD, shares new research on the role of chromothripsis, targeting cancers driven by ecDNA and more. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 37586]

Dan Kaufman, MD, PhD, David Traver, PhD, Gene Yeo, PhD, MBA, discuss the impact of genomics in relation to stell cell research including potential therapeutics for MDS and the role of the somite in hematopoietic stem cell fate. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 37561]

There are at least 2,500 proteins that bind RNA. Gene Yeo, PhD, MBA, explains how his lab studies these RNA binding proteins and their impact on human health. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 37589]

Jonathan Sebat, PhD shares current research on how combinations of rare gene mutations and complex common variant risk factors contribute to autism. Series: "Autism Awareness Programs" [Health and Medicine] [Science] [Show ID: 37658]

To Sheng-Ying Pao, the power of reframing CRISPR lies in what is absolutely ordinary: paper. In CRISPaper, Pao revisited a cultural past in the ancient art of papermaking. In ancient China, wild rice was used to make paper. Pao took rice stalks from plants edited with CRISPR and ground the fibers into pulp. She then poured the pulp over a mesh screen. Every time she dipped the screen into water, the plant fibers would lift and resettle on top of the mesh, eventually making paper. Through the...