Genetics (Audio)

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, but how do these cells know what to do? Researchers at UC San Diego and Hebrew University of Jerusalem share an intercontinental effort working to determine just that. Alon Goren and Itamar Simon discuss some of the work they are doing to learn more about the human body beyond the cellular level. [Health and Medicine] [Science] [Show ID: 40516]

Madeline Oudin, Ph.D., is a scientist and mother on a groundbreaking mission to help her daughter, Margot, who has two de novo mutations in the SCN8A gene, which causes epilepsy. Margot's condition causes frequent seizures and developmental challenges. Determined to make a difference, Madeleine and her team are pioneering a cutting-edge genetic therapy that could one day transform treatment for Margot and others like her. In this heartfelt talk, Madeleine shares how her scientific expertise and personal journey intersect, revealing the highs and lows of developing life-changing treatments. From innovative approaches using Antisense Oligonucleotides (ASOs) to the unexpected success of a ketogenic diet, this story is about resilience, hope, and the power of community. Series: "Autism Tree Project Annual Neuroscience Conference" [Health and Medicine] [Science] [Show ID: 40210]

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 and ethics of genomic sequencing in newborns. Series: "Exploring Ethics" [Health and Medicine] [Humanities] [Science] [Show ID: 39266]

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 structured stem" models explain genetic diversity that was once thought to come from other hominin species. Unlike previous ideas of interbreeding with archaic humans, our models predict that fossils from these populations should be genetically and physically similar. This variability in theories stems from not considering different possibilities, highlighting the importance of exploring various models to gain more accurate insights into our deep history. Series: "CARTA - Center for Academic Research and Training in Anthropogeny" [Humanities] [Science] [Show ID: 39269]

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 processes influence innovative medical treatments and so much more. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 38330]

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 for patients' rights, ensuring equitable access to genetic information, and fostering a patient-centered approach in genomic medicine. Throughout this presentation, you will grasp a deeper understanding of the ethical complexities in genomics and the critical role of patient advocacy in shaping responsible and inclusive genomic practices. Series: "Exploring Ethics" [Health and Medicine] [Humanities] [Science] [Show ID: 38940]

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 these cells know what to do? When a cell divides, how does it know that it's exact counterpart should do the same thing as the original. Researchers at the Goren Lab at UC San Diego are working to determine just that. They discuss some of the work they are doing to learn more about the human body beyond the cellular level [Health and Medicine] [Science] [Show ID: 38259]

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 large-scale genome structural variation continues to play a crucial role in the evolution of the human species.Daniel Geschwind discusses human cognition and how human brain evolution is particularly susceptible to disruption of neuropsychiatric disorders such as schizophrenia and autism spectrum disorder (ASD). Series: "CARTA - Center for Academic Research and Training in Anthropogeny" [Humanities] [Science] [Education] [Show ID: 38630]

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 linguistics. Anne Stone discusses ancient DNA research and the surprising insights into human evolutionary history. Series: "CARTA - Center for Academic Research and Training in Anthropogeny" [Humanities] [Science] [Education] [Show ID: 38633]

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 Africa is thought to be the ancestral homeland of all modern human populations. Series: "CARTA - Center for Academic Research and Training in Anthropogeny" [Humanities] [Science] [Education] [Show ID: 38631]

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 identification of functionally important genetic variation, the genetic basis of adaptation to diverse environments and diets, and the origins of modern humans. We have characterized genomic variation in thousands of ethnically and geographically diverse Africans in order to reconstruct human population history and local adaptation to variable environments and have identified candidate loci that play a role in alcohol metabolism and skin color. Series: "CARTA - Center for Academic Research and Training in Anthropogeny" [Humanities] [Science] [Education] [Show ID: 38304]

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 environment as well as examine potential questions that the next quarter century might answer. Series: "CARTA - Center for Academic Research and Training in Anthropogeny" [Humanities] [Science] [Education] [Show ID: 38303]

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 genetic and comparative studies. We have discovered mega basepairs of duplicated sequence and/or rapidly evolving sequence present in humans that are absent from other non-human primates. These changes have predisposed our species to recurrent rearrangements associated with disease but also have led to the emergence of new genes important in the expansion of the human frontal cortex of the brain. Our data suggest that large-scale genome structural variation has played and continues to play a crucial role in the evolution of the human species. Series: "CARTA - Center for Academic Research and Training in Anthropogeny" [Humanities] [Science] [Show ID: 38297]

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 conditions, competition, and other factors produce genomic impacts, also influencing extinction risk. The legacy of past events impacts resiliency of species in the current environment in interpretable ways. Demographic trajectories reveal vulnerability to extinction. Remarkable advances in genomics technologies portend a deeper understanding of the evolution of life and the vulnerability of extant species to changes now taking place through human agency. Series: "CARTA - Center for Academic Research and Training in Anthropogeny" [Humanities] [Science] [Show ID: 37906]

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 questions and the long history and diversity of life on our planet. Series: "Jeffrey B. Graham Perspectives on Ocean Science Lecture Series" [Science] [Show ID: 37915]

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 2500 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 genome-edited rice plant, an ancient practice was juxtaposed with cutting-edge technology. Series: "UC Berkeley News" [Science] [Arts and Music] [Show ID: 37388]

UC Consortium launches first clinical trial using CRISPR to correct the gene defect that causes Sickle Cell Disease. Dr. Mark Walters of UCSF talks about a new CRISPR gene therapy developed by scientists and physicians at UC Berkeley, UCSF and UCLA. The trial aims to directly correct the sickle mutation in blood stem cells that causes them to create deformed red blood cells, leading to the debilitating and painful disease. It will be the first time clinical researchers attempt to correct the faulty beta-globin gene in a patient's own cells with non-virally delivered CRISPR gene correction tools. Series: "UC Berkeley News" [Health and Medicine] [Show ID: 37368]

Human physical activities differ significantly from other species. How, when and why did these capabilities evolve? What adaptations underlie them? And how did the evolution of human physical activity affect other key human characteristics that have advanced our species? Herman Pontzer explores the evolution of metabolism, Grazyna Jasienska discusses different effects of activity on women's reproductive health and Ellen Breen explores an evolutionary pathway for high endurance activity. Series: "CARTA - Center for Academic Research and Training in Anthropogeny" [Science] [Show ID: 37187]

Human physical activities differ significantly from other species. How, when and why did these capabilities evolve? What adaptations underlie them? And how did the evolution of human physical activity affect other key human characteristics that have advanced our species? Jandy Hanna explores climbing in human evolution. Most primates live and move in the trees, but humans have evolved to move bipedally on the ground. Primates' arboreal life-style has long been thought to have allowed the evolution of human beings' unusual form of movement. We know much about how horizontal movement on branches differs in primates relative to most other mammals. But only recently have we begun to learn about how climbing is accomplished by non-human primates, and how such movement may have permitted early human ancestors to move upright. Key findings regarding the biomechanics of climbing, and what these data may mean for understanding human movement and exercise, are discussed. Series: "CARTA - Center for Academic Research and Training in Anthropogeny" [Science] [Show ID: 36948]

Human physical activities differ significantly from other species. How, when and why did these capabilities evolve? What adaptations underlie them? And how did the evolution of human physical activity affect other key human characteristics that have advanced our species? Herman Pontzer explores the evolution of human metabolism and its role in our evolution and health. From an evolutionary perspective, life is a game of turning energy into offspring. The strategies that species use to acquire energy, in the form of food, and allocate energy to the essential tasks of growth, maintenance, movement, and reproduction, are incredibly diverse and reflect the ecological pressures and opportunities encountered. There is a deep evolutionary history of the human metabolic strategy and our divergence from other apes. Series: "CARTA - Center for Academic Research and Training in Anthropogeny" [Science] [Show ID: 36951]

Human physical activities differ significantly from other species. How, when and why did these capabilities evolve? What adaptations underlie them? And how did the evolution of human physical activity affect other key human characteristics that have advanced our species? Ellen Breen explores an evolutionary pathway for high endurance activity. Series: "CARTA - Center for Academic Research and Training in Anthropogeny" [Science] [Show ID: 36945]

Human physical activities differ significantly from other species. How, when and why did these capabilities evolve? What adaptations underlie them? And how did the evolution of human physical activity affect other key human characteristics that have advanced our species? Yana Kamberov explores how sweating evolved and what it means for Homo sapiens. Humans use sweating as the primary mechanism to dump body heat. Humans' ability to effectively harness sweating as a thermoregulatory mechanism is a product of the evolution of a massively increased sweat gland density and a drastic reduction in the size of body hair. Advances have been made in identifying the genetic basis for how these unique and essential adaptations of human physiology evolved. Series: "CARTA - Center for Academic Research and Training in Anthropogeny" [Science] [Show ID: 36949]

Human physical activities differ significantly from other species. How, when and why did these capabilities evolve? What adaptations underlie them? And how did the evolution of human physical activity affect other key human characteristics that have advanced our species? Tatum Simonson explains adaptations to altitude and diving. Humans have persisted for hundreds of generations under challenging environmental extremes. Adaptations to such environments have been essential for survival, enabling populations to trek successfully among high mountain tops or to dive deeply into vast seas. Unique genetic signatures, resulting from thousands of years of strong selective pressures in these environments, have been discovered within the DNA of present-day populations. These findings provide important clues into evolutionary processes in humans. Series: "CARTA - Center for Academic Research and Training in Anthropogeny" [Science] [Show ID: 36946]

Breakthroughs in genomics and targeted therapies are revolutionizing the practice of clinical oncology. Precision genomics and immunotherapy offer promise to improve outcomes in cancer, but doing so means we need to move beyond historical models for cancer diagnosis and treatment. Razelle Kurzrock, MD discusses insights from this rapidly changing field and addresses some of the ethical challenges that must be met if we are to transform the lives of patients with cancer. Series: "Exploring Ethics" [Health and Medicine] [Show ID: 36637]

Mark Tuszynski, MD, PhD, Bob Yant, and Lawrence S.B. Goldstein, PhD discuss the newest research and treatments for spinal cord injury, including how neural stem cells may be leveraged to potentially regain function. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 37102]

Experts address altered states of the mind that are deliberately induced by humans. We will address what is known about origins and mechanisms of these mind-altering practices. In doing so, we hope to gain new insights into the origins and workings of the human mind. Series: "CARTA - Center for Academic Research and Training in Anthropogeny" [Health and Medicine] [Science] [Show ID: 36671]

Stephen Gottschalk, MD St. Jude Children's Research Hospital Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 36350]

Stem cells may play a critical role in treating genetic diseases. Hear from experts in the field. Moderated by Matthew Porteus, MD, PhD, Stanford University Tippi MacKenzie, MD, UC San Francisco: Fetal Therapy for Alpha Thalassemia Major Matthew A. Spear, MD, Poseida Therapeutics: CAR-T Cells: Poseida Therapeutics Stephen Gottschalk, MD, St. Jude Children's Research Hospital: Gene Therapy for X-linked SCID Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 36351]

Rosa Bacchetta, MD Stanford University Series: "Women in Science" [Health and Medicine] [Science] [Show ID: 36345]

Jennifer M Puck, MD UC San Francisco Series: "Women in Science" [Health and Medicine] [Science] [Show ID: 36329]

Donald B. Kohn, MD UCLA Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 36330]

What impacts has stem cell research made for blood and immune system disorders? Hear the latest from experts in the field. Moderated by Crystal Mackall, MD, Stanford University Alysia Vaccaro: Patient Perspective Jennifer M Puck, MD, UC San Francisco: Gene Therapy for Artemis Severe Combined Immunodeficiency (ART-SCID) Donald B. Kohn, MD, UCLA: Hematopoietic Stem Cell Gene Therapy for Primary Immune Deficiencies Mark C. Walters, MD, UCSF Benioff Children's Hospital Oakland: Gene correction in Sickle Cell Disease Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 36332]