Projects per year
Organization profile
Organisation profile
NEGE will focus on the research of mitochondrial diseases and of genetic malformations of the brain.
Deficiencies of oxidative phosphorylation are at the basis of a heterogeneous group of hereditary disorders, better known as mitochondrial cytopathies. The incidence was long underestimated, but the morbidity and mortality of these conditions have an important impact on public health.
Hundreds of proteins involved in the formation and functioning of these five enzymatic complexes are under dual genetic control, but there is no unambiguous correlation between phenotype and genotype. Although many mitochondrial and nuclear mutations have been identified during the last thirty years, these aspects hypothesize the confirmation of clinical diagnosis via biochemical and molecular research in a large patient population.
With the development of new and expanding existing analytical methods, this research group wants to detect the causal underlying mechanisms of isolated and combined complex deficiencies.
Hereditary brain deprivations such as lissencephaly, polymicrogyria and heterotopy are a major cause of mental and motor disability, severe epilepsy, learning disorders and autism. The etiology and repetition risk are largely unknown and the Treatment is purely symptomatic. The work of the research group is aimed at identifying new genes involved in the development of brain defects and the Genotype-phenotype correlations to optimize diagnostics and genetic counseling. The study of the function of new genes involved in the development of brain defects gives the opportunity to further elucidate the mechanisms underlying normal brain development.
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Profiles
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Anna Jansen
- UZBrussel
- Vrije Universiteit Brussel
- Public Health Sciences - Academic
- Mental Health and Wellbeing research group
- Neurogenetics
- Pediatrics - UZB Physician
Person: Researcher, Professor, Physician
Projects
- 1 Active
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fwotm1007: What brain malformations can teach us: a patient-driven approach to identify molecular mechanisms involved in brain development.
1/10/20 → 30/09/25
Project: Fundamental
Research output
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Chudley-McCullough Syndrome: A Recognizable Clinical Entity Characterized by Deafness and Typical Brain Malformations
Blauen, A., Stutterd, C. A., Stouffs, K., Dumitriu, D., Deggouj, N., Lockhart, P. J., Leventer, R. J., Nassogne, M-C. & Jansen, A. C., Feb 2021, In : Journal of Child Neurology. 36, 2, p. 152-158 7 p.Research output: Contribution to journal › Article
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Defining the phenotypical spectrum associated with variants in TUBB2A
Brock, S., Vanderhasselt, T., Vermaning, S., Keymolen, K., Régal, L., Romaniello, R., Wieczorek, D., Storm, T. M., Schaeferhoff, K., Hehr, U., Kuechler, A., Krägeloh-Mann, I., Haack, T. B., Kasteleijn, E., Schot, R., Mancini, G. M. S., Webster, R., Mohammad, S., Leventer, R. J., Mirzaa, G. & 5 others, , 1 Jan 2021, In : Journal of Medical Genetics. 2020, 1, p. 1-8 8 p.Research output: Contribution to journal › Article
1 Citation (Scopus) -
Early epileptiform EEG activity in infants with tuberous sclerosis complex predicts epilepsy and neurodevelopmental outcomes
EPISTOP Consortium, 2021, In : Epilepsia.Research output: Contribution to journal › Article
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Genetic heterogeneity of polymicrogyria: study of 123 patients using deep sequencing
Stutterd, C. A., Brock, S., Stouffs, K., Jansen, A., Fanjul-Fernandez, M., Lockhart, P. J., McGillivray, G., Mandelstam, S., Pope, K., Delatycki, M. B. & Leventer, R., 2021, In : Brain Communications. 3, 1, 12 p.Research output: Contribution to journal › Article
Open AccessFile -
Neuropathology of genetically defined malformations of cortical development - a systematic literature review
Brock, S., Cools, F. & Jansen, A. C., 21 Jan 2021, In : Neuropathology and applied neurobiology.Research output: Contribution to journal › Article
Activities
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Etude EPISTOP: Détecter et prévenir?
Anna Jansen (Speaker)27 Nov 2020Activity: Talk or presentation › Talk or presentation at a conference
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Impact of MCD on development
Anna Jansen (Speaker)6 Mar 2020Activity: Talk or presentation › Talk or presentation at a conference
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TANDem: empowering families through technology – an update on year 1
Anna Jansen (Speaker)13 Nov 2020Activity: Talk or presentation › Talk or presentation at a conference
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Nieuwe therapieën - nieuwe genetische ontdekkingen
Yvan Vandenplas (Organiser), Jean De Schepper (Participant), Elisabeth De Greef (Participant), Elke De Wachter (Participant), Luc Regal (Participant), Anna Jansen (Participant), Kathelijn Keymolen (Participant)1 Oct 2020Activity: Participating in or organising an event › Participating in or organizing a public lecture/debate
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International Tuberous Sclerosis Complex Research Conference
Anna Jansen (Organiser)13 Nov 2020Activity: Participating in or organising an event › Participation in conference