30Sep - 2024
Genetic Insights from the Mexico City Prospective Study
12:00 PM - 02:00 PM|Dr. Jason Torres|University of Oxford|Invitado por: Dra. Aimée Bastidas
Seminario
Abstract: Non-European ancestries remain largely underrepresented in genomic studies, and the disparity undermines genetic discovery efforts. To bridge this gap, we performed genome-wide genotyping and exome sequencing on over 140,000 participants from the Mexico City Prospective Study (MCPS) – the largest blood-based prospective study in Latin America.
In this lecture, I will discuss how we leveraged these datasets to profile genetic variation in two districts in Mexico City, uncover genetic relationships present in the cohort, and infer patterns of genetic ancestry among participants - including Mesoamerican Indigenous ancestry. Moreover, I will present insights into the genetic basis of obesity, diabetes, and smoking behaviour that have been revealed through the study of common and rare variants present in this admixed Mexican cohort.
Bio: Dr. Jason Torres is the genetic epidemiologist lead for the Mexico City Prospective Study. He completed his PhD at the University of Chicago where he investigated the genetic basis of type 2 diabetes (T2D) under the supervision of Prof. Nancy Cox. As a post-doc at the Wellcome Centre for Human Genetics, Jason elucidated regulatory mechanisms at fine-mapped diabetes risk loci by integrating molecular epigenomes in human pancreatic islet cells. In 2020, Jason joined Oxford Population Health (OxPop) where he leads genetic analysis of cardiometabolic traits as part of the MCPS Study Group.
Actualizado 2024-09-24 14:30:42
02-Diciembre-2024 al 02-Diciembre-2024
12:00 PM
Dra. Astrid Cardona
12:00 PM
Dra. Astrid Cardona
Fractalkine-Mediated Neuroprotection in the Diabetic Retina
The Cardona lab focuses on inflammatory processes in the central nervous system (retina, brain, and spinal cord) and understanding the mechanisms of tissue damage in Diabetic retinopathy and demyelinating diseases. Her research is centered on the mechanisms that regulate microglia activation via signaling between the neuronal-derived chemokine fractalkine (FKN) and its receptor CX3CR1, which is highly expressed in resident microglia. As resident phagocytes, microglia are sensors of injury, acting as scavengers of damaged, injured, or targeted cells, synapses, and infectious agents. However, exaggerated microglial in response to injury can lead to bystander damage to neurons. Her studies have shown that FKN and CX3CR1 are highly abundant in the brain, spinal cord, and retina and directly inhibit the microglia’s inflammatory behavior. In humans, mutations in the CX3CR1 gene give rise to a defective receptor in its ability to bind the FKN. Therefore, understanding the role of the human versions of CX3CR1 is of clinical relevance for targeted clinical approaches. Specific areas of interest include:
- Clarifying the protective and detrimental roles of the innate immune system.
- Determining the origin of tissue injury and factors that account for disease progression.
- Testing neuroprotective therapies via modulation of innate immune cell function.