The genetic epilepsies and epileptic encephalopathies are seizure disorders affecting 1 in every 100 children, caused by defects in one or more genes. Over two hundred genes have been implicated, but a specific genetic cause can only be identified in less than half of patients. These disorders are devastating in their impact on patients and families. Seizures are often intractable despite medication. Definitive diagnoses remain elusive. Many patients suffer from debilitating neuropsychiatric comorbidities including behavioral disorders, intellectual and developmental delay, and Autism.
During my medical school training (2020), I had the privilege to assess and manage children with epilepsy. These children made a substantial impact on my choice for specialization and strengthened my interest in epilepsy and neuropsychiatric research. During my PhD (2015), I applied computational genomics to study exome sequencing data from hundreds of patients with X-linked Intellectual Disability or Autism Spectrum Disorder. I further developed my computational skills during my first post-doctoral position (2016), studying large-scale exome, whole-genome, transcriptome, and methylation sequencing data.
As a current post-doctoral fellow in the lab of Sarah Weckhuysen, I apply computational genomics to better understand the epileptic encephalopathies. This includes:
1) Conducting deep analysis of sequencing data from patients seen in our UZA epilepsy clinic (University of Antwerp Hospital) who currently lack a molecular diagnosis.
2) Curating novel mutations and putative disease genes identified in our patients and sharing our findings with collaborators.
3) Contributing to the Epi25 Collaborative, a consortium that has completed sequencing of over 10,000 genetic epilepsy patients- our lab has contributed patient samples and phenotypes, and I am devising pipelines (e.g.: transposable element burden) to assist in the analysis of this large cohort.
4) Conducting deep molecular phenotyping of KCNQ2 encephalopathy- our lab is at the forefront of KCNQ2 epilepsy research. Led by our doctoral student Nina Dirkx, we are developing iPSC-derived neural cultures from KCNQ2 patients to elucidate the molecular mechanisms of this genetic epilepsy, and I will be analyzing bulk or single-cell transcriptomics data.