June 16, 2016 - Novo Nordisk Foundation Cluster Lectures - Series 6. Theme: the Danish National Biobank
The Novo Nordisk Foundation Cluster Lectures are a series of open lectures for all researchers and other interested in and around the Copenhagen area. Every 4 weeks, on a Thursday evening, you are invited to Tuborg Havnevej for lectures on themes with a general interest for the Novo Nordisk Foundation Research Centers. Often there will be a cross-disciplinary focus. The sixth lecture on 16 June 2016 will give you an insight in the Danish National Biobank and how to work with them.
15:45 Welcome and registration (coffee/tea, fruit, water available)
16:00-16:15 Lasse Boding, Coordinator at the Danish National Biobank, 'Introduction to the Danish Biobank Register, a quick overview of more than 22 million biological samples with link to register information'.
16:15-16:45 João Fadista, Postdoc at the Danish National Biobank, 'Genome-wide association study of Hirschsprung disease using pathology confirmed cases in Denmark detects novel associated loci and makes case/control prediction with high accuracy'.
16:45-17:15 Bjarke Feenstra, Senior researcher and group leader at the Danish National Biobank, 'Combining health register data and samples from the Danish National Biobank: two childhood disease examples'.
17:15-17:30 Q&A session
17:30 Networking with a drink and a bite
18:30 Thank you for a splendid end of day!
Registration is completely free of charge, but mandatory.
Talk by Postdoc João Fadista: Genome-wide association study of Hirschsprung disease using pathology confirmed cases in Denmark detects novel associated loci and makes case/control prediction with high accuracy.
Abstract: Hirschsprung disease (HSCR) is a congenital disorder with a population incidence of ~1/5000 live births, defined by an absence of enteric ganglion cells along a variable length of the colon. Typical presentations of the disease are either newborns without bowel movement or younger children with severe chronic constipation. Treatment is usually surgery to bypass or remove the diseased part of the colon. Although recent HSCR GWAS have found common associated variants, they only explain a small proportion of HSCR heritability. Our aim was to do a genome-wide association study (GWAS) GWAS on all Danish HSCR cases with samples available in the Danish National Biobank in order to unravel possible novel genetic loci involved in the disease. In addition to known variants, we found one novel locus that replicated in an independent cohort. We show that the closest gene to this locus is expressed in the gut during gut development. Moreover, by using LASSO regression, we were able to assign case/control labels with >90% accuracy using less than 200 genetic variants. In conclusion, we were able to detect novel loci associated with HSCR, while making case/control prediction with high accuracy, as envisioned by precision medicine.
Talk by Senior researcher and group leader Bjarke Feenstra: Combining health register data and samples from the Danish National Biobank: two childhood disease examples.
Abstract: In this talk, I will present two genetic epidemiology studies from our group that exemplify the power of combining Danish health register data with samples from the Danish National Biobank. The first example is a genome-wide association study (GWAS) of infantile hypertrophic pyloric stenosis (IHPS) a digestive system disease which is the most common condition requiring surgery in the first months of life. Analyzing dried blood spot samples from surgery confirmed patients, we identified four associated loci. One locus was at the apolipoprotein (APOA1/C3/A4/A5) gene cluster. Following up on this finding, we measured cholesterol levels in umbilical cord blood samples from 46 IHPS patients and 189 controls and demonstrated that the 25% of newborns with the lowest levels of total cholesterol were at almost five times higher risk compared with the 25% with the highest levels. This association suggests the possibility that dietary modifications to ensure normal lipid levels could reduce IHPS disease risk. The second example is a GWAS of febrile seizures (FS). On rare occasions FS occur as an adverse reaction following measles, mumps, and rubella (MMR) vaccination. Using data from the National Patient Register and the Danish Vaccination Register, we identified all children with a history of FS and determined whether they had received MMR vaccination during the preceding two weeks. Through GWAS analyses based on DNB samples of MMR-vaccine related FS cases, vaccine-unrelated FS cases, and controls, we identified 2 genetic loci distinctly associated with MMR-related FS, and 4 additional loci associated with FS in general. The vaccine-related loci harbored innate immunity genes, and the general FS loci implicated altered ion channel function. Eventually results like these may translate into improved vaccine design or personalized vaccination strategies. These associations may also provide more general insights into mechanisms of epileptogenesis and neuronal hyperexcitability.
I would like to know about upcoming Novo Nordisk Foundation Cluster Lectures - where can I find information?
You are very welcome to join the 'Novo Nordisk Foundation Research Centers' Linkedin group. There you will find information about upcoming lectures, and much more. Also, you may want to sign up for the weekly announcement with events and deadlines, sent out by the group manager.
What are my transport/parking options getting to the event?
You can park for free in front or at the side of Tuborg Havnevej 19. If that is full, there is 3 hours free parking in the parking to the Waterfront shopping mall at the end of the road.
Public transport by train to Hellerup station, and/or bus (1A, 21, 166), nearest by bus stop is Tuborg Boulevard.
Where can I contact the organizer with any questions?
Contact Sophie Labrosse at firstname.lastname@example.org
How do I cancel my participation?
Please help us respecting our speakers, as well keeping track of the numbers and optimize lecture and catering to the audience by cancelling as soon as you know that you exceptionally will not be able to make it. You can either cancel through Eventbrite or send an email to Sophie Labrosse (email@example.com).
Can I update my registration information?
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Do I have to bring my printed ticket to the event?
No, you do not have to bring your ticket, but registration is mandatory for participation.