Psychiatric & Neurodevelopmental Genetics Unit

The mission of PNGU is to identify and characterize the genetic basis of psychiatric, behavioral, and neurodevelopmental disorders and to translate these discoveries to improvements in clinical care and public health.

 

aarno Aarno Palotie, MD, Ph.D. Lecturer, Harvard Medical School
Research Scientist in Psychiatry,
Psychiatric and Neurodevelopmental Genetics Unit
Center for Human Genetic Research
Massachusetts General Hospital
Richard B. Simches Research Center
185 Cambridge Street
Boston, MA 02114
Email: apalotie@mgh.harvard.edu


Dr. Palotie earned his M.D. and Ph.D. degrees at the University Of Oulu, Finland. He served his residency in laboratory medicine and earned his speciality in Clinical Chemistry (Clinical pathology) at the University of Helsinki.

After his residency, Dr. Palotie founded and ran the diagnostic laboratory for molecular genetics at the Helsinki University Hospital and was Professor of Cell and Molecular Biology at the University of Helsinki. From 1998 to 2002 he was Professor of Pathology at the University Of California School Of Medicine, Los Angeles. From 2002 to 2008 he was Director of the Finnish Genome Center, an independent institute at the University of Helsinki. Since 2004 he has been a visiting Professor at the Broad Institute of MIT and Harvard. He also holds a position at the Institute for Molecular Medicine Finland (FIMM) in Helsinki.

Dr. Palotie has a long history of research in genetics of Mendelian and complex traits. This has included locus and variant identification in monogenic diseases belonging to the Finnish disease heritage and linkage and association studies in complex traits. Linked to his clinical specialty and clinical duties, Aarno has a history in developing and applying new techniques for molecular diagnostics, mutation detection, physical mapping and tissue arrays.

Publications:

Distinct brain disorders biologically linked
Disruption to the gene TOP3B increases susceptibility to schizophrenia and a learning disorder

A team of researchers lead by Drs. Aarno Palotie, Nelson Freimer (UCLA), Dr Utz Fischer (Wurtzburg University) and Dr. Mark Daly have shown that schizophrenia and a disorder associated with autism and learning difficulties share a common biological pathway.

The team found that a disruption of the gene TOP3B, an exceedingly rare occurrence in most parts of the world, is fairly common in a uniquely genetically distinct founder population from North-eastern Finland. In this population, which has grown in relative isolation for several centuries, the disruption of TOP3B is associated with an increased risk of schizophrenia as well as with impairment in intellectual function and learning.

Furthermore, the biochemical investigation of the protein encoded by the TOP3B gene allowed the researchers to gain first insight into the cellular processes that might be disturbed in the affected individuals. The team found that the TOP3B protein interacts with a protein known as FMRP, responsible for the Fragile X syndrome.

The frequency of neurodevelopmental disorders in Finland varies by region. This variation corresponds to the migration history of the Finnish population, as exemplified by schizophrenia prevalence and by the percentage of the population with a disability pension resulting from intellectual disability. [DOI:10.1038/nn.3484]

See PDF of the paper

See Dr. Palotie's publications on PubMed