Irma Järvelä


Research areas

Description of research and teaching

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: 02941 25451 office
Tel: 02941 25506 laboratory


Sirpa Ala-Mello, Rinnekoti Rehabilitation Centre, Helsinki

Kristiina Avela, Department of Medical Genetics, The Family Federation, Helsinki

Christian Gilissen, Radhboud University, Nijgmegen, Holland

Ilkka Immonen, Department of Ophthalmology, University of Helsinki

Vera Kalscheuer, Mac Planck Institute, Berlin, Germany

Kai Karma, prof (emer) Sibelius Academy

Tuire Kuusi, MuD, Sibelius Academy

Harri Lähdesmäki, Aalto University

Aki Mustonen, Oulu University Hospital

Päivi Onkamo, Department of Biological and Environmental Sciences, UH

Pirre Raijas, Sibelius Academy, DocMus Department, Helsinki

Mirja Somer, Department of Medical genetics, The Family Federation, Helsinki

Raija Vanhala, Department of Child Neurology, University of Helsinki





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 page

Curriculum vitae

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

Curriculum vitae

Head of the Department

Further information on UH affiliationresponsible for teaching of medical genetics at the faculty of medicine

Highlighted publications

  1. Genome-Wide Copy Number Variation Analysis in Extended Families and Unrelated Individuals Characterized for Musical Aptitude and Creativity in Music

    Ukkola-Vuoti, L., Kanduri, C., Oikkonen, J., Buck, G., Blancher, C., Raijas, P., Karma, K., Lahdesmaki, H. & Järvelä, I. 27.02.2013 In : PLoS One. 8, 2, p. Article Number: e56356 9 p.

    Publication: Contribution to journalA1 Refereed journal article

  2. X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes

    Philips, A. K., Siren, A., Avela, K., Somer, M., Peippo, M., Ahvenainen, M., Doagu, F., Arvio, M., Kaariainen, H., Van Esch, H., Froyen, G., Haas, S. A., Hu, H., Kalscheuer, V. M. & Jarvela, I. 11.04.2014 In : Orphanet journal of rare diseases. 9, 13 p.49

    Publication: Contribution to journalA1 Refereed journal article

View all (176) »

Latest activities

  1. Lääkäripäivät 2015

    Irma Järvelä (Speaker: Presenter), 09.01.2015

    Activity: Conferences, workshops, courses, seminarsPublic Talks

  2. Äiti tekee muusikon

    Irma Järvelä (Participant), Tiede, 03.2014 → …

    Activity: Public appearancesParticipation in interview for written media

  3. Radio program Kultakuume

    Irma Järvelä (Attendee), 17.07.2014

    Activity: Conferences, workshops, courses, seminarsPublic Talks

View all (55) »

Latest projects

  1. Gene-culture evolution in music (MUSGEN)

    Järvelä, I., Raijas, P., Karma, K., Ukkola-Vuoti, L., Kantojärvi, K., Ylisaukko-oja, T., Seitsonen, S., Rasinperä, H. A. E., Lemmelä, S. & Kolho, K.

    02.03.11 → …

    Project: Research Evaluation 2011

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associate professor in medical molecular genetics

ID: 39337