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SUMMARY:SMARTbiomed seminar - From obesity GWAS to central mechanism
DTSTART;TZID=Europe/London:20260522T090000
DTEND;TZID=Europe/London:20260522T100000
DTSTAMP:20260517T055524Z
UID:c3a7afa0-6c19-f111-8342-7c1e527a0d5f
CREATED:20260306T145640Z
DESCRIPTION:Abstract: Genome-wide association studies have identified thou
 sands of obesity loci\, yet translating these into biological mechanisms r
 emains a major bottleneck. In this talk\, I will present a framework for v
 ariant-to-function (V2F) studies in obesity\, centered on the hypothalamus
  as one the brain where genetic evidence converges. I will propose tiered 
 evidence criteria across human model systems\, reverse and forward genetic
 s\, and phenotyping assays\, and discuss how tools including single-cell C
 RISPR screens\, iPSC-derived hypothalamic neurons\, and sequence-to-functi
 on deep learning models can be integrated into a closed-loop discovery par
 adigm – where human genetic evidence both guides and benchmarks experime
 ntal prioritisation.\n\nBio: Dr. Tune H. Pers (h-index 56\, ORCID 0000-000
 3-0207-4831) heads a research group at the Novo Nordisk Foundation Center 
 for Basic Metabolic Research\, University of Copenhagen\, and is affiliate
 d with the Broad Institute. His lab integrates human genetics\, single-cel
 l genomics\, and machine learning to map how obesity- and diabetes-associa
 ted genetic variants act through specific cell populations in the brain 
 – a variant-to-function approach focused on hypothalamic and hindbrain c
 ircuits regulating energy balance. Key contributions include identifying a
 mylin-responsive hindbrain neurons mediating obesity drug responses (Ludwi
 g et al.\, Nature Metabolism 2021\; Ludwig et al.\, Nature Metabolism 2026
 \, in press)\, developing computational tools for linking GWAS signals to 
 cell types (Timshel et al.\, eLife 2020)\, and demonstrating central mecha
 nisms of FGF1-mediated glycemic control (Bentsen\, Rausch et al.\, Nature 
 Communications 2021). Selected honours: Leif Groop Award for obesity and d
 iabetes research (2024)\, Sapere Aude Starting Grant (2015)\, Young Invest
 igator Award\, Danish Diabetes Academy (2019).
LAST-MODIFIED:20260513T145835Z
LOCATION:Big Data Institute - Seminar rooms\, Seminar rooms Big Data Insti
 tute Old Road Campus Oxford Oxfordshire OX3 7LF United Kingdom
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