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Personal profile

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: 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

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

Keywords

  • 3112 Neurosciences
  • genomics
  • brain development
  • musical traits

International and National Collaboration Publications and projects within past five years.

Publications 1989 2019

The effect of music performance on the transcriptome of professional musicians

Kanduri, C., Kuusi, T., Ahvenainen, M., Philips, A. K., Lahdesmaki, H. & Jarvela, I., 25 Mar 2015, In : Scientific Reports. 5, 7 p., 9506.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

A genome-wide linkage and association study of musical aptitude identifies loci containing genes related to inner ear development and neurocognitive functions

Oikkonen, J., Huang, Y., Onkamo, P., Ukkola-Vuoti, L., Raijas, P., Karma, K., Vieland, V. J. & Jarvela, I., Feb 2015, In : Molecular Psychiatry. 20, 2, p. 275-282 8 p.

Research output: Contribution to journalArticleScientificpeer-review

The effect of listening to music on human transcriptome

Kanduri, C., Raijas, P., Ahvenainen, M., Philips, A. K., Ukkola-Vuoti, L., Lahdesmaki, H. & Jarvela, I., 12 Mar 2015, In : PeerJ. 3, 17 p., 830.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Creative Activities in Music - A Genome-Wide Linkage Analysis

Oikkonen, J., Kuusi, T., Peltonen, P., Raijas, P., Ukkola-Vuoti, L., Karma, K., Onkamo, P. & Jarvela, I., 24 Feb 2016, In : PLoS One. 11, 2, 21 p., 0148679.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Detecting signatures of positive selection associated with musical aptitude in the human genome

Liu, X., Kanduri, C., Oikkonen, J., Karma, K., Raijas, P., Ukkola-Vuoti, L., Teo, Y-Y. & Jarvela, I., 16 Feb 2016, In : Scientific Reports. 6, 9 p., 21198.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Projects 2011 2015

Biological basis of musical aptitude

Järvelä, I., Oikkonen, J. & Ukkola-Vuoti, L.

Unknown funder

01/01/201131/10/2015

Project: Research project

Prizes

Helsingin Liike- ja Virkanaisten yhdistys

Irma Järvelä (Recipient), 31 Oct 1991

Prize: Prizes and awards

The Docent of the Year 2018, University of Helsinki

Irma Järvelä (Recipient), 21 Mar 2018

Prize: Prizes and awards

Activities 1997 2018

Genetic diagnostics in clinic - ethical principles

Irma Järvelä (Invited speaker)
21 Feb 2018

Activity: Talk or presentation typesOral presentation

The most common genetic diseases in primary health care

Irma Järvelä (Speaker)
27 Sep 2018

Activity: Talk or presentation typesOral presentation

Kokemusasiantuntijuus - olennainen osa harvinaisiin sairauksiin liittyvää opetusta

Irma Järvelä (Participant)
4 Sep 2018

Activity: Other activity typesTypes for other activities - External teaching and subject coordination

Molecular genetic background of musical aptitude

Irma Järvelä (Keynote speaker)
14 Jun 2018

Activity: Talk or presentation typesOral presentation

Genomics approaches to study musical aptitude, music perception and practice

Irma Järvelä (Invited speaker)
11 Jun 2018

Activity: Talk or presentation typesOral presentation

Press / Media

Musiikki tuo tehoa työntekoon - Talouselämän haastattelu

Irma Järvelä

12/10/2018

1 media contribution

Press/Media: Press / Media

Musiikin kuuntelu

Irma Järvelä

03/06/2015

1 media contribution

Press/Media: Press / Media

Studio55: Terveys

Irma Järvelä

21/04/2015

1 media contribution

Press/Media: Press / Media

Yle TV1 uutiset

Irma Järvelä

05/04/2015

1 media contribution

Press/Media: Press / Media

Äiti tekee muusikon

Irma Järvelä

01/03/2014

1 media contribution

Press/Media: Press / Media