Genetics (Audio)

Rare disease research is creating new paths for diagnosis, treatment, and broader medical discovery. Gene therapy can repair or replace faulty genes, and work on cystinosis has led to a stem cell platform now being applied to Danon disease, Sanfilippo syndrome C, Friedreich’s ataxia, and Alzheimer’s research. Funding programs support gene therapy, clinical trials, and new platform approaches for rare diseases. CAR-T cell research is also advancing treatment possibilities for pediatric brain tumors, including early results in children with DIPG and diffuse midline glioma. A patient advocate shares her daughter’s diagnostic odyssey and treatment for TUBB4A leukodystrophy. Together, these stories show why rare disease research matters beyond rarity. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 41402]

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]

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. 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]

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 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]

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]

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]