Forskningsresultat per år
Forskningsresultat per år
clinical teacher
Finland
Forskningsoutput per år
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
Preethy Nair, DVet, 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:
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
Nair PS, Raijas P, Ahvenainen M, Philips AK, Ukkola-Vuoti L, Järvelä I. Music-listening regulates human microRNA expression. Epigenetics, in press.
Shaw M, Carroll R, Arvio M, Gardener A, Hodgson B, Heron S, McKenzie F, Järvelä I, Gecz J. EXOME REPORT: Two novel intragenic variants in the FMR1 gene in patients with suspect clinical diagnosis of Fragile X Syndrome and no CGG repeat expansion. Eur J Med Genet 63(10):104010, 2020.
Polla DL, Rahikkala E, Bode M, Määttä T, Varilo T, Loman T, Philips AK, Kurki M, Palotie A, Körkkö J, Vieira P, Avela K, Jacquemin V, Pirson I, Abramowicz M, de Brouwer APM, Kuismin O, van Bokhoven H, Järvelä I. Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population. Eur J Hum Genet 27 (8):1235-1243, 2019.
Nair PS, Kuusi T, Ahvenainen M, Philips AK, Järvelä I. Music-performance regulates microRNAs in professional musicians. PeerJ 7:e6660, 2019. https://doi.org/10.7717/peerj.6660
Kuusi T, Haukka J, Myllykangas L, Järvelä I. The causes of deaths in professional musicians in the classical genre. MPPA 34 (2): 92, 2019.
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>, acting professor in medical genetics 01.03.2010-31.12.2011
Head of the Department
Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review
Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review
Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review
Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review
Forskningsoutput: Kapitel i bok/rapport/konferenshandling › Kapitel › Vetenskaplig › Peer review
Järvelä, I., Oikkonen, J. & Ukkola-Vuoti, L.
01/01/2011 → 31/10/2015
Projekt: Forskningsprojekt
Järvelä, Irma (!!Recipient), 31 okt. 1991
Pris: Pris och hedersbetygelser
Järvelä, Irma (!!Recipient) & Kolho, Kaija-Leena (!!Recipient), 2012
Pris: Pris och hedersbetygelser
Järvelä, Irma (!!Recipient), 21 mars 2018
Pris: Pris och hedersbetygelser
Irma Järvelä (!!Speaker)
Aktivitet: Typer för tal eller presentation › !!Oral presentation
Irma Järvelä (!!Speaker)
Aktivitet: Typer för tal eller presentation › !!Oral presentation
Irma Järvelä (!!Speaker)
Aktivitet: Typer för tal eller presentation › !!Oral presentation
Irma Järvelä (!!Speaker)
Aktivitet: Typer för tal eller presentation › !!Oral presentation
Irma Järvelä (!!Speaker)
Aktivitet: Typer för tal eller presentation › !!Oral presentation
12/10/2018
1 Mediabidrag
Press/media: !!Press / Media