Dr. Mathilde Di Filippo, PharmD, PhD is a Biologist at the Hospices Civils de
Lyon and in the CARMEN U1060 INSERM research Unit. Her research focuses
on the genetic basis of Dyslipidaemia in general.
After completing her Ph.D., in which she investigated Genotypic and
phenotypic features of rare primitive dyslipidaemias with the disorder of
apolipoprotein B-rich lipoproteins metabolism under the supervision of Prof.
Philippe Moulin, she developed a custom expanded next-generation
sequencing panel that enables the analysis of 400 dyslipidaemia-related
genes. This tool allows the diagnosis of monogenic dyslipidaemia, the
assessment of different polygenic risk scores, and offers the opportunity to
explore new candidate genes.
Currently, Dr. Di Filippo oversees the biochemical and molecular diagnosis of
Dyslipidaemia in the Department of Biochemistry and Molecular Biology at
the Lyon University Hospital. Dr. Di Filippo’s research is focused on functional
studies of variants and novel molecular causes of hypobetalipoproteinaemia.


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