Genome variation in neurodevelopmental diseases or syndromes
Our aim is to reveal information about the genetic mechanisms causing neurodevelopmental diseases or syndromes, and obtain knowledge about biological consequences leading to the clinical presentation.
In our group, genome aberrations are studied in detail in patients with severe diseases or syndromes. Thorough clinical examination is performed by a team of geneticists, neurologists, pediatricians and other specialists. This multidisciplinary approach allows us to gain insight about the etiology of these syndromes and further facilitate building of hypotheses to explain genotype-phenotype correlations.
Even though patients with each of these syndromes are individually rare, the total number of patients is significant. Our translational projects aim at revealing unique knowledge about human biology, which is of major importance for the development of future therapy.
About the Group
The research group is a part of the Research section at the Department of Medical Genetics, Oslo University Hospital (in Norwegian).It currently consists of 1 senior researcher, 1 senior engineer, 3 PhD students, 1 research medical student (Forskerlinjen), 2 MSc students, 3 research technicians and 1 MD/researcher.
- Molecular characterization of severe progressive encephalopathies (PE) in childhood
- Molecular mechanisms causing hereditary spastic paraplegia and ataxia
- Detailed molecular and clinical characterization of patients with neurodevelopmental disabilities and genome aberrations
- Genome analysis to identify the molecular cause of hereditary intellectual disability and epilepsy in consanguineous families
- Studying a mouse knock-in model expressing the Stormorken syndrome mutation
- Studies of genetic defects in sacral anomalies
- Eirik Frengen
- Doriana Misceo
- Tuva Barøy
- Thilini Hansamali Gamage Yaddehi Gamage
- Dulika Sanjeewani Sumathipala
- Ingvild Sveum Reinseth
- Alf Otto Sundar
- Christeen R. Pedurupillay
- Samudita Senaratne
- Ellen Carlsen
- Asbjørn Holmgren
- Johan Robert Helle
- Kristin Louise Eiklid
- Ingunn Holm
- Øivind Braaten
- Silja Svanstrøm Amundsen
Early signs of mental illness in the developing brain
Feb 24, 2017
Core Facility for preclinical imaging (MRI and IVIS). What services can we offer?
Feb 21, 2017
Defining the role of tumor-secreted exosomes in pre-metastatic niche formation
Feb 21, 2017
Arne Klungland talks about embryo research
Feb 21, 2017
Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2
Neuromuscul Disord, 26 (9), 570-5