Foto av Irma Järvelä
1989 …2020

Forskningsoutput per år

Om du gjort några ändringar i Pure kommer de visas här snart.

Personlig profil

Information om forskning och undervisning

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

Meritförteckning

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

Meritförteckning

Head of the Department

Vetenskapsgrenar

  • 3112 Neurovetenskaper

Internationellt och inhemskt samarbete

Publikationer och projekt inom de senaste fem åren.
Om du gjort några ändringar i Pure kommer de visas här snart.