Bert Callewaert
- Clinical Geneticist
- Full Professor
- Department Chair
- Head of the Connective tissue - Callewaert Genomics lab
Contact
Campus UZ, C. Heymanslaan 10, K5 (entrance 81), 9000 Ghent
E-mail I LinkedIn | X (Twitter) | UGent Research Explorer | ORCID
Personalia
Biography
- 2024 - present: Head of Department of Biomolecular Medicine
- 2016 - present: Head of Clinic - Center for Medical Genetics Ghent
- 2015 - present: Clinical Geneticist - AZ Alma
- 2014 - present: Professor - Ghent University
- 2012 - present: Clinical Geneticist - AZ Nicolaas
- 2011 - present: Clinical Geneticist - Ghent University Hospital
- 2011 - 2014: Postdoc - Ghent University Hospital
- 2010: PhD - Ghent University
- 2004: Master Medicine - Ghent University
Fun fact
I love playing the piano (Classical music), go to concerts, and enjoy the small things in life.
Member of
- Center of Medical Genetics Ghent
- Belgian Society for Human Genetics (board member)
- European Society for Human Genetics
- Belgian Society for Cardiology
- American Society for Human Genetics
- A Twist of Fate - Arterial Tortuosity Syndrome (Medical Director)
- Myhre Syndrome Foundation (professional advisory board)
- Cutis Laxa Internationale
- European Reference Network for Skin Diseases (ERN-skin)
- European Reference Network on Intellectual disability, TeleHealth, Autism and Congenital Anomalies (ERN-ITHACA)
- Montalcino Aortic Consortium
Research tracks
Expertise
Me and my team are eager to understand how genomic variation affects extracellular matrix assembly and homeostasis and, in turn, how changes in the extracellular matrix define tissue and organ faith, especially of the skin, arteries, skeleton, and brain. We leverage this knowledge to work towards therapies for monogenic and multifactorial (rare) diseases. As a clinician I developed a special interest for dysmorphology, nephro-, dermato- and cardiogenetics. Research projects on gene discovery, phenotype delineation and translation of novel molecular techniques into diagnostic approaches are directly linked to my clinical activity.
Publications
Key publications
- Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability. (2024) Am. J. Hum. Genet.
- EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis. (2022) Am. J. Hum. Genet.
- Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signatures. (2021) PLoS Genet.
- Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome. (2021) Am. J. Hum. Genet.
- Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa. (2017) Am. J. Hum. Genet.