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Klinisk Biokemi i Norden · 1 2018
Cardiovascular laboratory testing:
The laboratory
plays an essential role in the diagnosis of acute and
chronic disease. This is especially true and crucial
for diagnosis of cardiovascular diseases. In this sym-
posium we will hear how to diagnose and follow up
acute myocardial infarction and heart failure accor-
ding to the present guidelines. We shall also discuss
the renewed guidelines for lipid monitoring and the
impact of lipids as risk markers. What are the best
biomarkers for follow-up of statin therapy? Recent
evidence suggests that new biomarkers discovered
by lipidomics may be better than the present ones.
Genetics, bioinformatics and risk assessment:
Samuli Ripatti, PhD, is professor of Biometry at the
Faculty of Medicine UH, and FIMM-EMBL Research
Group Leader. He is the director of the Academy Cen-
tre of Excellence in Complex Disease Genetics – from
Discovery to Precision Medicine. He has published
over 220 publications. He is chairing the Doctoral
Program in Population Health and is an Associate
Editor in PLOS Genetics. Professor Ripatti will give
a planary lecture on genetics, bioinformatics and
risk assessment. His research group studies genetic
variation in the Finnish population and its effects
on common complex diseases. His research focus is
particularly in cardiometabolic diseases as models
to learn about disease mechanisms and strategies for
diagnoses and prevention.
Basics of genetic and epigenetic testing:
The field of
genetic and epigenetic testing is proceeding fast. In
this session the analytical methods of massive paral-
lel sequencing as well as its clinical implications are
elaborated. The basics of epigenetics are discussed
together with the achievements of current research
in this field. Mitochondrial disorders and testing
of these disorders are further explored to give also
insight into finding of new disease genes. Finally,
recent advancements in cell free DNA testing and
oncology are highlighted.
Moving towards data driven business models:
Data
based operations are making many traditional work
routines, human interactions and communication
futile. Data signals, triggers, predictions and automa-
tion are increasing efficiency and data is becoming an
asset. Simultaneously, human psychology needs to be
Foto: Henrik Alfthan.
