Research projects

The research group works in close collaboration with experts in bioinformatics, music education and in clinical research to identify genetic variants underlying traits affecting both normal and abnormal brain development.

I Biological basis of musical aptitude

The project represent an interdisciplinary project where the modern methods of molecular and statistical genetics, bioinformatics and music education are combined to elucidate the cross-talk between genes and cultural inheritance in music perception and production. The study represents a pioneer work at international level in aiming to understand the evolution of human cognitive functions in music.

II Molecular genetics of intellectual disability

Intellectual disability (IQ<70) is present in 2-3% of the populations. Genetic factors are responsible for 50 % of severe mental retardation. We use exome sequencing to identify novel genes and mutations in Finnish families with ID of unknown cause. Several mutations have been identified to date.

Members of the group

Chakravarthi Kanduri, MSc

Preethy Nair, DVet, MSc

Jaana Oikkonen, MSc

Anju Philips, MSc

Laboratory: Department of Medical Genetics
Office: Room B311b
Tel: 050 544 7030 mobile
Tel: 02941 25506 laboratory

Collaborators

Intellectual disability:

MD Tuomo Määttä, Disability Services, Joint Authority for Kainuu, Kajaani

Professor James Lupski, Baylor College of Medicine, Houston, Texas

Professor Suzanne McLeal, Baylor College of Medicine, Houston, Texas

PhD Isabelle Schrauwen, Baylor College of Medicine, Houston, Texas

Professor Jozef Gecz, Adelaide Children’s hospital, Adelaide

Professor Hans van Bokhoven, Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen

MD PhD Elisa Rahikkala, Department of Clinical Genetics, PEDEGO Research Unit and Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu

Docent Raija Vanhala, Helsinki university hospital

Professor Maria Arvio, Turku and Oulu University

MD PhD Kristiina Avela, Helsinki University Hospital

Docent Teppo Varilo, The Department of Medical genetics, University of Helsinki

MUSGEN:

Professor Tuire Kuusi, Helsinki University of Arts

MuD Pirre Raijas, Joensuu Conservatoire

Professor (emer) Kai Karma, Helsinki University of Arts

Funding

The Academy of Finland

Biomedicum Helsinki Foundation

The Finnish Medical Society (Finska Läkaresällskapet)

List of five recent publications profiling research activities of the group

group Philips AK, Siren A, Avela K, Doagu F, Ahvenainen M, Arvio M, Somer M, Kääriainen H,  van Esch H, Haas S, Hu H, Froyen G, Kalscheuer V, Järvelä I. X-Exome sequencing in Finnish families with  intellectual disability ? Five novel mutations and two syndromic phenotypes found. Orphanet J Rare Dis 9:49, 2014

Oikkonen J, Huang Y, Onkamo P, Ukkola-Vuoti L, Raijas P, Karma K, Vieland VJ, Järvelä I. A genome-wide linkage and association study of musical aptitude identifies genetic variants related to inner ear development and neurocognitive functions. Mol Psychiatry 2014 Mar 11. doi: 10.1038/mp.2014.8. [Epub ahead of print].

Hautamäki A, Kivioja J, Seitsonen S,  Savolainen ER, Liinamaa MJ, Luoma A, Järvelä I, Immonen I. The IL-8, VEGF and CFH Polymorphisms and Bevacizumab in Age-Related Macular Degeneration. Ophthalmology 121(4):973-974.e2, 2014.

Kanduri C, Ukkola-Vuoti L, Oikkonen J, Buck G, Blancher C, Raijas P,  Karma K, Lähdesmäki H, Järvelä I. The genome wide landscape of copy  number variations in the MUSGEN study provides evidence for a founder  effect in the isolated Finnish population. Eur J Hum Genet 2013, Apr  17. [Epub ahead of print].

Ukkola-Vuoti L, Kanduri C, Oikkonen J, Buck G, Blancher C, Raijas P,  Karma K, Lähdesmäki H, Järvelä I. Genome wide copy number variation  analysis in extended families and unrelated individuals characterized  for musical aptitude and creativity in music. PLoS ONE 8(2): e56356, 2013

Possible URL address to lab's home page or/and EU/other project project

http://www.hi.helsinki.fi/music/english/members.htm

Clinical reader in medical genetics 01.08.2010>, acting professor in medical genetics 01.03.2010-31.12.2011

Head of the Department