Järvelä, Irma
https://orcid.org/0000-0002-1770-6187 Description of research
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 B311bTel: 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 CABP2Affiliations
University of Helsinki
Source: ORCID
Education
Degrees
assoc professor / Helsinki University