Charting the Path for Alzheimer's Prevention with the Colombian Kindred with Autosomal Dominant Alzheimer's Disease
NIH Director ’ s Wednesday Afternoon Lecture Series Florence Mahoney Lecture on Aging. Speaker Quiroz ’ s research interests focus on studying the neural underpinnings of memory dysfunction in the preclinical stages of Alzheimer ’ s disease (AD). By applying her efforts to the world ’ s largest family with a single, early onset AD-causing mutation (E280A in PSEN1), her research has provided evidence of brain abnormalities in individuals at genetic risk for AD decades before their clinical onset. Her findings have helped the field to re-conceptualize Alzheimer ’ s as a sequence of changes that begins decades befor...
Source: Videocast - All Events - May 12, 2022 Category: General Medicine Tags: Upcoming Events Source Type: video

Researchers are tuning the strings of your heart. See how their work could help keep a heart on beat
The heartbeat is the core of the symphony that is human anatomy. But when the heart loses its rhythm (arrhythmia), it can be a symptom of a genetic heart condition that causes thickening and scarring of heart muscles. These researchers have developed 3D models of a patient's heart, unique to each ...This is an NSF Multimedia Gallery item. (Source: NSF Multimedia Gallery)
Source: NSF Multimedia Gallery - March 10, 2022 Category: Science Source Type: video

The Future of Non-invasive Functional Imaging in the Era of Big Data
This is an NIH Director's Lecture. Speaker Damien Fair: " My research focuses on mechanisms and principles that underlie the developing brain. The majority of this work uses functional MRI and resting state functional connectivity MRI to assess typical and atypical populations. A second focus has become testing the feasibility of using various functional and structural MRI techniques in translational studies of developmental neuropsychiatric disorders (e.g., attention deficit hyperactivity disorder, and autism). I am exploring ways to better characterize individual patients with these psychopathologies to help guide future...
Source: Videocast - All Events - February 22, 2022 Category: General Medicine Tags: Upcoming Events Source Type: video

Precision medicine gets established as EHR integrations improve
Dr. Maulik Purohit, clinical innovation lead for transformation at University Hospitals, discusses tech strategies, patient communication and the challenges of clinical genetics and population health genomics. (Source: Healthcare ITNews Videos)
Source: Healthcare ITNews Videos - February 22, 2022 Category: Information Technology Source Type: video

De Novo SPG4 Inaugural Symposium [Day 2]
De Novo SPG4 is a newly recognized genetic mimic of childhood cerebral palsy. The goal of this inaugural meeting is to bring together clinicians, basic scientists, and patients working on de novo SPG4 in order to summarize what is known about this disease, discuss gaps in knowledge to inform translational research plans going forward with the goal of therapeutics developmen t.Air date: 4/30/2022 10:00:00 AM (Source: Videocast - All Events)
Source: Videocast - All Events - January 31, 2022 Category: General Medicine Tags: Upcoming Events Source Type: video

De Novo SPG4 Inaugural Symposium [Day 1]
De Novo SPG4 is a newly recognized genetic mimic of childhood cerebral palsy. The goal of this inaugural meeting is to bring together clinicians, basic scientists, and patients working on de novo SPG4 in order to summarize what is known about this disease, discuss gaps in knowledge to inform translational research plans going forward with the goal of therapeutics developmen t.Air date: 4/29/2022 10:00:00 AM (Source: Videocast - All Events)
Source: Videocast - All Events - January 31, 2022 Category: General Medicine Tags: Upcoming Events Source Type: video

Charting the Path for Alzheimer ’ s Prevention: From Biomarkers to Therapeutic Targets
This is the annual Florence Mahoney Lecture on Aging. Speaker Quiroz ’ s research interests focus on studying the neural underpinnings of memory dysfunction in the preclinical stages of Alzheimer ’ s disease (AD). By applying her efforts to the world ’ s largest family with a single, early onset AD-causing mutation (E280A in PSEN1), her research has provided evidence of brain abnormalities in individuals at genetic risk for AD decades before their clinical onset. Her findings have helped the field to re-conceptualize Alzheimer ’ s as a sequence of changes that begins decades before cognitive decline, and which may ...
Source: Videocast - All Events - November 29, 2021 Category: General Medicine Tags: Upcoming Events Source Type: video

Molecular Genetic Mechanisms in Neuronal Stress and Maintenance
Speaker Yishi Jin is interested in identifying the molecular mechanisms controlling synapse formation and axon guidance in the nematode Caenorhabditis elegans.For more information go tohttps://oir.nih.gov/walsAir date: 6/8/2022 3:00:00 PM (Source: Videocast - All Events)
Source: Videocast - All Events - November 27, 2021 Category: General Medicine Tags: Upcoming Events Source Type: video

Genomic Basis of Breast Cancer Progression in Blacks
This is the annual Marshall W. Nirenberg Lecture. Speaker Olufunmilayo I. Olopade the consummate physician-scientist with sustained and impactful translational research in genetics that spans more than two decades. She is a pioneer in cancer genetics whose body of work has focused on the molecular genetics of breast cancer progression. Her seminal contributions have provided an understanding of the root causes of aggressive breast cancer in young women, especially young women of African ancestry across the Diaspora. Her laboratory was the first to describe recurrent BRCA1 mutations in extended African American families wit...
Source: Videocast - All Events - November 27, 2021 Category: General Medicine Tags: Upcoming Events Source Type: video

WALS NIH Director's Lecture with Damien Fair
This is an NIH Director's Lecture. Speaker Damien Fair: " My research focuses on mechanisms and principles that underlie the developing brain. The majority of this work uses functional MRI and resting state functional connectivity MRI to assess typical and atypical populations. A second focus has become testing the feasibility of using various functional and structural MRI techniques in translational studies of developmental neuropsychiatric disorders (e.g., attention deficit hyperactivity disorder, and autism). I am exploring ways to better characterize individual patients with these psychopathologies to help guide future...
Source: Videocast - All Events - November 26, 2021 Category: General Medicine Tags: Upcoming Events Source Type: video

Leveraging the Intramural Research Program to Effect Foundational Progress in Neurodegenerative Disease
This is the annual G. Burroughs Mider Lecture. Speaker Andrew Singleton works on the genetic basis of neurological disorders including Parkinson's disease, Alzheimer ’ s disease, dystonia, ataxia, dementia with Lewy bodies, and amyotrophic lateral sclerosis (ALS). His team seeks to identify genetic variability that causes or contributes to disease and to use this knowledge to understand the underlying molecular processes. Most recently his work has expanded to the use of multimodal data in predicting disease. Dr. Singleton ’ s group discovered a number of genetic mutations that cause disease, including the alpha-synucl...
Source: Videocast - All Events - November 26, 2021 Category: General Medicine Tags: Upcoming Events Source Type: video

Mutant p53 Activities in Mouse Tumor Models
This is the annual Margaret Pittman Lecture. Speaker Guillermina Lozano, Ph.D., is a geneticist recognized for her studies of the p53 tumor suppressor pathway, from characterizing p53 as a transcriptional activator to characterizing the physiological importance of Mdm2 and Mdm4 proteins as inhibitors of p53, and the consequences of p53 mutations on tumor development.For more information go tohttps://oir.nih.gov/walsAir date: 3/2/2022 3:00:00 PM (Source: Videocast - All Events)
Source: Videocast - All Events - November 24, 2021 Category: General Medicine Tags: Upcoming Events Source Type: video

Control of Embryonic Morphogenesis
The Tabin Lab studies the genetic basis by which form and structure are regulated, both during embryonic development to produce the exquisite morphology of the vertebrate embryo and over evolutionary time to generate the extraordinary and beautiful diversity of animal forms on this planet. In our developmental studies we combine classical methods of experimental embryology with modern molecular, imaging, genetic and genomic techniques for interrogating and testing gene function. In our evolutionary work we have addressed question of morphological, behavioral and metabolic evolution in a variety of species using both develo...
Source: Videocast - All Events - November 24, 2021 Category: General Medicine Tags: Upcoming Events Source Type: video

Reconstruction of the Pathophysiology of Chronic Pain from Genome-wide Studies
The speaker's research focuses on determining the cellular and molecular biological mechanisms by which functional genetic variations impact human pain perception and risk of development of chronic pain conditions, enabling new approaches to identify new drug targets, treatment responses to analgesics, and diagnostic.For more information go tohttps://oir.nih.gov/walsAir date: 2/9/2022 3:00:00 PM (Source: Videocast - All Events)
Source: Videocast - All Events - November 23, 2021 Category: General Medicine Tags: Upcoming Events Source Type: video

Turning Genes into Medicines: Challenges in the Development of Gene Therapeutics
Speaker Katherine High joined AskBio in January 2021 as President, Therapeutics and member of the AskBio Board of Directors. Dr. High is responsible for driving the strategic direction and execution of the company ’ s preclinical and clinical programs. Most recently, she was a Visiting Professor at Rockefeller University. Previously, she served as President, Head of Research and Development, and a member of the Board of Directors at Spark Therapeutics, where she directed the development and regulatory approval of Luxturna ® , the first gene therapy for genetic disease to obtain regulatory approval in both the United Sta...
Source: Videocast - All Events - November 23, 2021 Category: General Medicine Tags: Upcoming Events Source Type: video