Lab
Neerman-Arbez Lab
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Statement of Research Interest
We are studying human genetic disorders of hemostasis, in particular fibrinogen deficiencies.
These are rare and affect either the quantity or the quality of circulating fibrinogen, which is the
precursor of the major protein component of the blood clot, fibrin. Our laboratory identified the
gene and the first causative mutations for complete deficiency of fibrinogen, afibrinogenemia, in
1999. Fibrinogen is a hexamer comprising two copies of three polypeptides. These are encoded
by the fibrinogen alpha, beta and gamma genes clustered on human chromosome 4. While still
pursuing studies of the molecular mechanisms by which fibrinogen gene mutations lead to
disease, we are also investigating the broader picture influencing fibrinogen levels (which are
highly variable amongst individuals), identifying new regulatory elements in the
genomic landscape of the fibrinogen cluster. We are also determining whether microRNAs are
involved in the fine-tuning of fibrinogen levels. Animal models i.e. the zebrafish (Danio rerio)
are used in the course of these projects. The discovery of novel mechanisms determining
fibrinogen levels in the circulation is clinically relevant since a high fibrinogen level is an
independent risk factor for cardiovascular disease.
These are rare and affect either the quantity or the quality of circulating fibrinogen, which is the
precursor of the major protein component of the blood clot, fibrin. Our laboratory identified the
gene and the first causative mutations for complete deficiency of fibrinogen, afibrinogenemia, in
1999. Fibrinogen is a hexamer comprising two copies of three polypeptides. These are encoded
by the fibrinogen alpha, beta and gamma genes clustered on human chromosome 4. While still
pursuing studies of the molecular mechanisms by which fibrinogen gene mutations lead to
disease, we are also investigating the broader picture influencing fibrinogen levels (which are
highly variable amongst individuals), identifying new regulatory elements in the
genomic landscape of the fibrinogen cluster. We are also determining whether microRNAs are
involved in the fine-tuning of fibrinogen levels. Animal models i.e. the zebrafish (Danio rerio)
are used in the course of these projects. The discovery of novel mechanisms determining
fibrinogen levels in the circulation is clinically relevant since a high fibrinogen level is an
independent risk factor for cardiovascular disease.
Lab Members
| Lukowski, Sam Post-Doc | Vorjohann, Silja Graduate Student | di Sanza, Corinne Technical Staff |
| Koegel, Jérémie |