Demystifying Medicine — Progeria: A Genetic and Therapeutic Adventure
The Demystifying Medicine Series includes presentations on pathology, diagnosis, and therapy in the context of major disease problems and current research. Primarily directed toward PhD students, clinicians and program managers, this series is designed to help bridge the gap between advances in biology and their application to major human diseases. Each session includes clinical and basic science components presented by NIH staff and invitees. All students, trainees, fellows, and staff are welcome to participate.For more information go tohttps://demystifyingmedicine.od.nih.govAir date: 1/23/2024 4:00:00 PM (Source: Videocast - All Events)
Source: Videocast - All Events - December 14, 2023 Category: General Medicine Tags: Upcoming Events Source Type: video

WALS Lecture: Leveraging Genetics and Cell Signaling to Decipher Disorders of Excitability
Presentation Objectives: To understand how genetic testing illuminates the causes of a devastating disease, Sudden Unexpected Death in Childhood, and identifies dysfunctional calcium signaling as a major cause; To chart a course for how genetic analysis of neuropsychiatric disorders such as schizophrenia, Major Depressive Disorder and Bipolar Disorder will spur understanding the impact of non-coding variations in key signaling proteins; To appreciate how genetics highlights underappreciated signaling molecules that coordinate excitatory and inhibitory synaptic strength and provide a target for cannabidiol (CBD) action in e...
Source: Videocast - All Events - December 4, 2023 Category: General Medicine Tags: Upcoming Events Source Type: video

NIH ProtIG Seminar: The role of long-lived proteins in aging and Alzheimer ’ s disease
Loss of proteostasis is a hallmark of aging, and aging is the greatest risk factor for Alzheimer's disease (AD). Deterioration in function and accumulation of damage to the proteome are largely repaired by protein turnover. These turnover mechanisms are particularly important in long-lived postmitotic neurons, which cannot dilute toxic proteins through cell division. We aimed to identify extremely long-lived proteins (ELLP) that persist for several months or longer across the aging continuum in wild-type mice and in genetic AD mouse models. We hypothesize that these ELLPs represent key points of vulnerability to the declin...
Source: Videocast - All Events - November 30, 2023 Category: General Medicine Tags: Upcoming Events Source Type: video

NICHD Interview Chalk Talk: Dr. An Dang Do
Dr. An Dang Do, an NICHD tenure-track investigator candidate, will give a chalk talk on her plans to establish a program that starts from the physiological genetic foundation of cellular stress response pathways to concurrently develop clinically applicable methods for outcome measures, as well as to evaluate and discover therapeutic candidates for these pathways.Air date: 12/7/2023 3:30:00 PM (Source: Videocast - All Events)
Source: Videocast - All Events - November 27, 2023 Category: General Medicine Tags: Upcoming Events Source Type: video

NIH Director's Seminar Series: A small RNA perspective on genome integrity
Small non-coding RNAs play crucial roles in development and disease by regulating gene expression, defending against viruses, and controlling mobile genetic elements (transposons). Our research focuses on PIWI-interacting RNAs (piRNAs) that silence transposons to safeguard the integrity of germline genomes. PIWI-piRNA complexes act as RNA-guided defense and are essential for germ cell health and fertility. To better understand the molecular mechanisms of this RNA-based immune system, we employ an integrated approach that combines genetics, biochemistry, and next-generation sequencing. Results from our studies elucidate fun...
Source: Videocast - All Events - November 22, 2023 Category: General Medicine Tags: Upcoming Events Source Type: video

NICHD Interview Seminar: Dr. Carlos Ferreira
Dr. Carlos Ferreira, an NICHD tenure-track investigator candidate, will give a seminar on " Genomics, models and therapeutic targets of genetic skeletal disorders. "Air date: 12/18/2023 10:00:00 AM (Source: Videocast - All Events)
Source: Videocast - All Events - November 17, 2023 Category: General Medicine Tags: Upcoming Events Source Type: video

Combining human genetics with physiology to understand the mechanisms of persistent pain
This seminar is part of the NIH Neuroscience Seminar Series supported by the Scientific Directors of every Institute or Center that has Neuroscience Labs at the NIH.Air date: 1/22/2024 12:00:00 PM (Source: Videocast - All Events)
Source: Videocast - All Events - November 15, 2023 Category: General Medicine Tags: Upcoming Events Source Type: video

Genetics at the maternal-placental-fetal interface: insights into fetal growth and cardiometabolic health.
The early life period is critical for long term health. Fetal growth abnormalities and cardiometabolic diseases are interconnected and cause high burden of morbidity. Understanding the complex genetic and environmental factors that underlie these relationships is crucial to developing preventive and therapeutic interventions for maximizing health across the life span. The placenta is critical for fetal development and potentially underlies later onset diseases, but it is understudied. Moreover, to date, perinatal genomic studies have failed to capture human ancestral diversity, which impedes biological understanding of dis...
Source: Videocast - All Events - November 8, 2023 Category: General Medicine Tags: Upcoming Events Source Type: video

WALS: Climate, Humans, and The Fate of the American Megafauna
Beth Alison Shapiro is a professor in the Department of Ecology and Evolutionary Biology at the University of California, Santa Cruz. Shapiro's work has centered on the analysis of ancient DNA. She was awarded a MacArthur Fellowship in 2009 and a Royal Society University Research Fellowship in 2006.Research InterestsMy research aims to better understand how populations and species change through time, in particular in in response to environmental and other changes to their habitat. To address this, my group uses the latest experimental and computational approaches to analyze genetic information isolated from fossil and arc...
Source: Videocast - All Events - November 7, 2023 Category: General Medicine Tags: Upcoming Events Source Type: video

NIH-FDA COVID-19 SIG Lecture: From Second Thoughts on the Germ Theory to a Gull-Blown Host Theory.
Dr. Casanova is a professor, senior attending physician, and head of the St. Giles Laboratory of Human Genetics of Infectious Diseases at The Rockefeller University, as well as a visiting professor at the Necker Hospital for Sick Children, University of Paris.The COVID-19 Scientific Interest Group (SIG) lecture series was initiated in 2020 to facilitate communication of the ongoing scientific research to understand SARS-CoV-2 and treat COVID-19. Invited speakers share the latest research on a broad range of topics, including clinical findings, therapeutics, basic biology, epidemiology, and public health research.For more i...
Source: Videocast - All Events - October 30, 2023 Category: General Medicine Tags: Upcoming Events Source Type: video

2023 Stephen E. Straus Lecture: Novel Insights Into Heart-Brain Interactions and Neurobiological Resilience
Ahmed Tawakol, M.D., Massachusetts General Hospital and Harvard Medical School, will deliver the 2023 Stephen E. Straus Distinguished Lecture in the Science of Complementary Therapies. In his talk, Dr. Tawakol will review how neural pathways related to stress and depression result in cardiovascular diseases. Many studies have shown that stress and depression are associated with heightened amygdalar activity relative to regulatory activity in the cortex. Multisystem research has shown that increased stress-neural network activity triggers sympathetic system activity and induces leukopoiesis, resulting in systemic inflammati...
Source: Videocast - All Events - October 24, 2023 Category: General Medicine Tags: Upcoming Events Source Type: video

WALS- George Khoury Lecture: Coronavirus Activation and Antagonism of Innate Immune Pathways
Our lab studies murine and human coronavirus pathogenesis, including MHV, MERS-CoV and SARS-CoV. We use MHV infection of mice as a model system for the study of:acute viral encephalitischronic demyelinating diseases such as Multiple Sclerosisvirus-induced hepatitissevere acute respiratory diseases.We have the important tools of a well-developed animal model system and reverse genetic systems with which to manipulate the viral genome. We also investigate pathogenesis of human coronaviruses both the lethal MERS-CoV and SARS-CoV-2 as well as the common cold viruses OC43 and 229E and NL63. We are investigating these both in ep...
Source: Videocast - All Events - October 4, 2023 Category: General Medicine Tags: Upcoming Events Source Type: video

SOX9 is a key component of RUNX2-regulated transcriptional circuitry in osteosarcoma
Osteosarcoma (OS) is the most common bone cancer in children and adolescents. Although the 5-year survival rate of most OS is more than 70%, it drops to 25% for those with recurrent or metastasized tumors. Furthermore, the standard care of OS has not changed in the past three or more decades, and there is no FDA-approved targeted therapy and immunotherapy for OS. Therefore, there is a great need to develop new therapeutic targets to reduce side effects and improve the prognosis for OS patients. The lack of targetable genetic alterations in OS suggests that transcriptional and epigenetic events are involved in the etiology ...
Source: Videocast - All Events - September 5, 2023 Category: General Medicine Tags: Upcoming Events Source Type: video

The Future of CRISPR: What ’ s Ahead for Genome Editing
Jennifer Doudna is a Nobel Laureate in Chemistry, and a Professor of Biochemistry, Biophysics and Structural Biology. Her research focuses on RNA as it forms a variety of complex globular structures, some of which function like enzymes or form functional complexes with proteins. Her lab's research into RNA biology led to the discovery of CRISPR-Cas9 as a tool for making targeted changes to the genome. In bacteria, CRISPR systems preserve invading genetic material and incorporate it into surveillance complexes to achieve adaptive immunity. Crystal structures of diverse Cas9 proteins reveal RNA-mediated conformational activa...
Source: Videocast - All Events - August 30, 2023 Category: General Medicine Tags: Upcoming Events Source Type: video

Generative Biology: Learning to Program Cellular Machines
My general scientific interests are in understanding how genetically encoded molecular programs can yield the remarkable behaviors observed in biological organisms, at multiple scales. I began my research career as a biophysical chemist and structural biologist studying problems such as the evolutionary optimization of enzymes, how protein structure is encoded in sequence, and the determinants of protein-protein interaction specificity. My research has gradually shifted towards utilizing this mechanistic understanding of molecules as a foundation to study how systems of interacting molecules assemble to yield cellular or o...
Source: Videocast - All Events - August 22, 2023 Category: General Medicine Tags: Upcoming Events Source Type: video