Program

Location: Lecture Hall 2
Address: Biomedicum 1, Haartmaninkatu 8, P-floor, Meilahti campus, Helsinki, Finland.

Day 1: September 10th, 2018

Session I: GENETIC DISCOVERY
Chair: Samuli Ripatti

8:30 Morning coffee
9:00 Andres Metspalu (University of Tartu, Estonian Genome Center) and Samuli Ripatti (FIMM, University of Helsinki)
Opening words
9:15 Samuli Ripatti (FIMM, University of Helsinki)
FinnGen large-scale genomics study and collaboration with pharma industry
9:30 Emmanouil Dermitzakis (University of Geneva Medical School)
The contribution of non-coding DNA to complex disease and cancer
10:00 Alexandre Reymond (University of Lausanne)
Genome architecture and disease
10:30 Stretch break
11:00 Mark Daly (FIMM, University of Helsinki & Massachusetts General Hospital and the Broad Institute of MIT and Harvard)
Beyond GWAS: next steps in human genetics
11:30

Speed talks: 5 speakers (doctoral candidates/ postdocs selected from abstracts)

Adriana Di Battista (University of Lausanne):
Balanced X-autosome translocations-induced chromatin reorganization and gene expression
Sini Kerminen (FIMM, University of Helsinki):
Evaluating geographic differences in polygenic risk in Finland
Mikaela Laine (University of Helsinki):
Gene-environment interaction in myelin plasticity after chronic psychosocial stress
Konstantin Popadin (University of Lausanne):
Several lines of evidence of ongoing purifying selection against deletions in the healthy human population
Jonathan Sulc (University of Lausanne):
Genetic components of obesity and their impact on health

12:00

Lunch break

"Lunch & Learn" for selected doctoral candidates
Doctoral candidates are welcome to join the speakers to discuss
career management and development over lunch.
Please register for the "Lunch and Learn" in the registration form!

Session II: COMPUTATIONAL TOOLS
Chair: Matti Pirinen

13:00 Team talk: Making precision oncology a reality
Jing Tang group (FIMM, University of Helsinki)
13:30 Zoltan Kutalik (Lausanne University Hospital)
Fifty shades of obesity genetics
14:00 Coffee break & Poster session
14:45 Matthew Robinson (University of Lausanne)
Designing Bayesian learning models for large datasets
15:15 Bart Deplancke (École Polytechnique Fédérale de Lausanne EPFL)
Understanding regulatory variation in humans using variable chromatin modules
15:45

Speed talks: 3 speakers (doctoral candidates/ postdocs selected from abstracts)

Kaur Alasoo (University of Tartu):
Genetic effects on promoter usage are highly context-specific and contribute to complex traits
Maarja Lepamets (University of Tartu):
New quality measure for CNV: a multi-omics approach
Eleonora Porcu (University of Lausanne):
Mendelian randomization combining GWAS and EQTL data reveals new loci, extensive pleiotropy
and genetic determinants of complex and clinical traits

16:00

Networking & Poster session (with Wine & Cheese)

Poster presenters
Sailalitha Bollepalli
(FIMM, University of Helsinki):
Epigenetic smoking status estimation
Tess Bonato (University of Lausanne):
Sharing aggregate information for a large number of genetic markers: is it safe?
Liza Darrous (University of Lausanne):
Mendelian Randomization: towards an integrated causal network of human diseases and lifestyle exposures
Emilie Ha-Le (University of Lausanne):
The role of genetic variants modulating zinc homeostasis in childrens cognitive and physical functioning
Shabbeer Hassan (FIMM, University of Helsinki):
High-resolution genetic map reveals extensive variation in recombination within Finnish population compared to non-Finnish Europeans
Jani Haukka (Folkhälsan, University of Helsinki):
Whole genome sequencing of individuals with type 1 diabetes reveals novel susceptibility loci for diabetic nephropathy
Mart Kals (University of Tartu):
Genotype imputation using ethnically-matched reference panel and its effect on association analysis
Jaanika Kronberg-Guzman (University of Tartu):
NMR-based prediction of incident type 2 diabetes in the Estonian Biobank
Mikaela Laine (University of Helsinki):
Gene-environment interaction in myelin plasticity after chronic psychosocial stress
Minttu Marttila (THL):
Genomics to medicine - P5 FinHealth
Merli Mändul (University of Tartu):
A cluster-randomized trial on personalized feedback on genetic risks: effects on treatment compliance of patients with hypertension
Marili Palover (University of Tartu):
Reporting genetic risks to participants of the Estonian Biobank, Genome Center
Sebastian Peña (THL, University of Helsinki):
Can biomarkers improve prediction of alcohol-related mortality? Evidence from eight prospective cohort studies
Elmo Saarentaus (FIMM, University of Helsinki):
CNV association with neurodevelopmental phenotypes in a Finnish population cohort
Lea Urpa (FIMM, University of Helsinki):
Characterization of the genetic architecture of intellectual disability in northern Finland
Urmo Võsa (University of Tartu):
Trans-eQTL meta-analysis in >31,000 blood samples associates genes and pathways with polygenic risk
Gong-Hong Wei (University of Oulu):
Biology and Clinical Implications of the 19q13 Aggressive Prostate Cancer Susceptibility Locus

19:00 Dinner (with invitations)

Day 2: September 11th, 2018

Session III: GENETIC TRANSLATION: individuals
Chair: Elisabeth Widén

8:30 Morning coffee
8:45 Team talk: Primary Immunodeficiencies - from bedsite to bench and back
Janna Saarela (FIMM, University of Helsinki) & Timi Martelius (HUS)
9:15 Elin Org (University of Tartu, Estonian Genome Center)
The interplay between gut microbiota and type 2 diabetes
9:45 Mikko Niemi (University of Helsinki)
Pharmacogenetics - from discovery to clinical implementation
10:15

Speed talks: 3 speakers (doctoral candidates/ postdocs selected from abstracts)

Kristi Läll (University of Tartu):
Polygenic prediction of breast cancer
Nina Mars (FIMM, University of Helsinki):
Predicting incident cardiometabolic and cancer events using highly polygenic risk scores
Rubina Tabassum (FIMM, University of Helsinki):
Genetics of human plasma lipidome: understanding lipid metabolism and its link to diseases beyond traditional lipids

10:30 Stretch & coffee break

Session IV: GENETIC TRANSLATION: population health
Chair: Alexandre Reymond

11:00 Elisabeth Widén (FIMM, University of Helsinki)
Implementing genome-based predictive and preventive medicine: the GeneRISK follow-up study
11:30 Krista Fischer (University of Tartu, Estonian Genome Center)
From GWAS to personalized risk prediction of common complex diseases – methodological challenges and experiences in the Estonian Biobank
12:00 Maris Alver (University of Tartu, Estonian Genome Center)
Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank
12:30 Closing words & awarding the best poster & talk (by a doctoral candidate/ post-doc)

13:00 ePerMed SAB lunch meeting (ePerMed partners and SAB members)
FIMM meeting room, Biomedicum 2, 3rd floor, D307a