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. We use exome sequencing and optical genome mapping to identify novel genes and mutations in Finnish families with ID of unknown cause. 

Members of the group

Preethy Nair, DVet, MSc

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

Collaborators

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

MD Merja Rauhala, Disability Services, Joint Authority for Kainuu, Kajaani

Docent Ritva Paetau, University of Helsinki

Professor Suzanne M Leal, Columbia university, New York

PhD Isabelle Schrauwen, Columbia university, New York

Professor (emer) Maria Arvio, Turku and Oulu University

MD Juha Leppälä, Eskoo, Seinäjoki

MD Johanna Granvik, Kårkulla samkommun, Pietarsaari

MD Susanna Öhman, Kårkulla samkommun, Parainen

MD PhD Kristiina Avela, Helsinki University Hospital

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

List of five recent publications profiling research activities of the group

Järvelä I. Musikaalisuuden geenitutkimukset. Musiikkipsykologia. Louhivuori, J., Saarikallio, S. & Toiviainen, P. (toim.). 2. uudistettu painos toim. Eino Roiha -foundation 2022, pp.211-225.

Järvelä I, Määttä T, Acharya A, Leppälä J, Jhangiani SN, Arvio M et al. Exome sequencing reveals predominantuly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland. Human Genetics 2021;140 (7):1011-1029.

Nair PS, Raijas P, Ahvenainen M, Philips AK, Ukkola-Vuoti L, Järvelä I. Music-listening regulates human microRNA expression. Epigenetics 2021;16 (5): 554-566.

Weerts MJA, Lanko K, … Järvelä I, Lauronen L et al. Delineating the molecular and phenotypic spectrum of the SETD1B -related syndrome. Genetics in medicine 2021; 23 (11): 2122-2137.

Polla DL, Rahikkala E, Bode M, Määttä T, Varilo T, Loman T, ... Bokhoven H, Järvelä I. Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population. Eur J Hum Genet 2019; 27 (8):1235-1243.

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 01.08.2010-30.09.2021, acting professor in medical genetics 01.03.2010-31.12.2011.