Tutkimuksen ja opetuksen kuvaus

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. 

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, Turku University

MD Tommi Salokivi, Paimio

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

List of five recent publications profiling research activities of the group

Schrauwen I, Rajendran Y, Acharya A, Öhman S, Arvio M, Paetau R, Siren A, Avela K, Granvik J, Leal SM, Määttä T, Kokkonen H, Järvelä I. Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders. Sci Rep. 2024 May 16;14(1):11239. doi: 10.1038/s41598-024-62009-y.PMID: 38755281 Free PMC article.

Järvelä I, Paetau R, Rajendran Y, Acharya A, Bharadwaj T, Leal SM, Lehesjoki AE, Palomäki M, Schrauwen I. Heterogeneous genetic patterns in bilateral perisylvian  polymicrogyria: insights from a Finnish family cohort. Brain Commun. 2024 Apr 18;6(3):fcae142. doi: 10.1093/braincomms/fcae142. eCollection 2024.PMID: 38712318 Free PMC article. Review.

Salokivi T, Parkkola R, Rajendran Y, Bharadwaj T, Acharya A, Leal SM, Järvelä I, Arvio M, Schrauwen I. A novel variant in CYFIP2 in a girl with severe disabilities and perisylvian polymicrogyria.  Am J Med Genet A. 2024 Apr;194(4):e63478. doi: 10.1002/ajmg.a.63478. Epub 2023 Nov 17.PMID: 37975178

Uusimaa J, Kettunen J, Varilo T, Järvelä I, Kallijärvi J, Kääriäinen H, Laine M, Lapatto R, Myllynen P, Niinikoski H, Rahikkala E, Suomalainen A, Tikkanen R, Tyynismaa H, Vieira P, Zarybnicky T, Sipilä P, Kuure S, Hinttala R. The Finnish genetic heritage in 2022 - from diagnosis to translational research. Dis Model Mech. 2022 Oct 1;15(10):dmm049490. doi: 10.1242/dmm.049490. Epub 2022 Oct 26.PMID: 36285626 Free PMC article. Review.

Bharadwaj T, Schrauwen I, Acharya A, Nouel-Saied LM, Väisänen ML, Kraatari M, Rahikkala E, Jarvela I, Kotimäki J, Leal SM. Autosomal recessive nonsyndromic hearing impairment  in two Finnish families due to the population enriched CABP2 c.637+1G>T variant. Mol Genet Genomic Med. 2022 Mar;10(3):e1866. doi: 10.1002/mgg3.1866. Epub 2022 Feb 11.PMID: 35150090 Free PMC article.

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.

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

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

Ansioluettelo

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