The Neurobiology of Dyslexia and Reading Ability

Principal Investigators: JUHA KERE1, EERO CASTRÉN2, PERTTU LINDSBERG3

1Department of Medical Genetics, University of Helsinki, 1Karolinska Institutet, Stockholm, 2Neuroscience Center, University of Helsinki, 3Department of Neurology, University of Helsinki, 3Helsinki University Hospital

Dyslexia, or specific reading disability is a clinically and socially important learning disorder. It is defined as an unexpected failure in learning to read in the presence of normal senses, normal intelligence, and adequate opportunity and motivation, and it is diagnosed in 4-6% of school children. Its neurobiology has just recently started to unveil, based on the positional cloning of first candidate genes. Our consortium consists of three experts with highly complementary research profiles: complex genetics and positional cloning (Kere), neuronal plasticity and neural development (Castren), and experimental models of neuronal repair and clinical neurology (Lindsberg).

The general, comprehensive aim of this consortium project is to identify the neurobiological basis, genes, proteins and neuronal circuits that are critically involved in the development of high-level cognitive functions of the human brain, reading ability and disability. We envision achieving these aims by a multidisciplinary approach. Specifically, we aim at 1) identifying yet other genes that increase the risk of specific dyslexia; 2) identifying the regulatory interactions between these genes and biochemical interactions of the proteins in appropriate cell culture models; 3) investigating the developmental expression of these genes in mouse and human brain; 4) delineating the brain regions and circuits critically involved in these processes and characterising the roles of selected genes and proteins in normal brain development, and 5) studying their role during plasticity and repair after brain injury.

The identification of genes for dyslexia has many ramifications for both clinical and theoretical sciences. First, it is highly desirable to refine the diagnostics based on genetic variants that might allow the refining of therapeutic or prognostic subgroups. Second, new gene discoveries will highlight known pathways or reveal a new biochemical pathway for the pathogenesis. Third, the phenotypes involve complex brain functions altered in dyslexia. Recognition of mechanisms critical for such functions will open up new paths for the study of physiology and evolution. 

Contact: juha.kere(at)helsinki.fi, tel. +46 734 213 550