Dr Nathalie Escande-Beillard is an Assistant Professor with Koç University, School of Medicine (KUSoM), İstanbul, Turkey.

After receiving her PhD in Neuroscience at University de la Mediterranée in Marseille, France, she joined the Department of Molecular and Medical Pharmacology in University of California (UCLA), Los Angeles where she focused on understanding molecular convergences between the nervous and the immune system.

In 2008, she relocated to Singapore to join Prof. Bruno Reversade’s laboratory in the Institute of Medical Biology (IMB, A*STAR) where she leaded research projects on rare human undiagnosed genetics disorders, with a particular interest on premature ageing, metabolism, neurodegeneration and cancer.

In 2020, after having been awarded the TÜBİTAK BİDEB 2232 International Fellowship for Outstanding Researchers, she moved to İstanbul to set up her research laboratory in the Department of Medical Genetics of Koç University Hospital in collaboration with Prof. Hülya Kayserili and her team. She brought her expertise on functional genomics, in vivo models and in vitro target validation techniques.

Her research team currently works on identifying human disease-causing genes in congenital recessive disorders. Her goals are now to broaden the perspectives of functional validation, translating new discoveries into drugable targets in collaboration with the pharmaceutical industry, with the ultimate goal of finding new therapeutic approaches and lead compounds to treat common diseases.

 

Selected publications:

Elouej S, Harhouri K, Lemao M., G. Baujat , S. Nampoothiri , H. Kayserili, N.Al Menabawy, L. Selim , A. Llamos Paneque , C.Kubisch , D.Lessel , R. Rubinsztajn , C. Charar, C. Bartoli, A. Rötig, P. Bauer, C. Pereira, J. Mortreux , N. Escande-Beillard N, A. Muchir, L. Martino, Y. Gruenbaum , S. Lee, P. Manivet, G. Lenaers, B. Reversade , N. Lévy, A. De Sandre-Giovannoli. Loss of MTX2, responsible for a novel severe progeroid mandibuloacral dysplasia, links mitochondrial dysfunction to altered nuclear morphology. Nature Communication, 2020 Sep 11;11(1):4589.

 

Escande-Beillard N*., Loh A., Saleem SN., Kanata K., Hashimoto Y., Altunoglu U., Metoska A., Grandjean J., Ng FM., Pomp O., Baburajendran N., Wong J., Hill J., Beillard E., Cozzone P., Zaki M., Kayserili H., Hamada H., Shiratori H., Reversade B. Loss of PYCR2 Causes Neurodegeneration by Increasing Cerebral Glycine Levels via SHMT2. *Corresponding author. Neuron. 2020 Apr 22. pii: S0896-6273(20)30235-X).

 

Ding Z, Ericksen RE, Escande-Beillard N, Lee QY, Loh A, Denil S, Steckel M, Haegebarth A, Ho SW, Chow P, Toh HC5, Reversade B, Gruenewald S, Han W. Metabolic pathway analyses identify proline biosynthesis as a promoter of liver tumorigenesis. Journal of Hepatology. 2019 Nov 11. pii: S0168-8278(19)30667-1

 

Fischer-Zirnsak B, Escande-Beillard N*, _, Tan YX, Loh A, Al Bughaili M, Bahena P, Rahikkala E, Krüger U, Zemojte T, Ravenswaaij R, Stolte-Dijkstra I, Symoens S, Pajunen L, Al-Gazal L, Mundlos S , Villarroel C, Masri A, Stephen P. Robertson, Callewaert B, Kornak U, Reversade B. Recurrent ALDH18A1 de novo mutations cause a novel-progeroid form of autosomal dominant cutis laxa. * First co-author. American Journal of Human Genetics, 2015 Sep 3;97(3):483-92

 

Escande-Beillard N, Washburn L, Zekzer D, Wu ZP, Eitan S, Ivkovic S, Lu Y, Dang H, Middleton B, Bilousova TV, Yoshimura Y, Evans CJ, Joyce S, Tian J, Kaufman DL. Neurons preferentially respond to self-MHC class I allele products regardless of peptide presented. Journal of Immunology, 2010 Jan; 184(2):816-23.

 

Reversade B, Escande-Beillard N*, Dimopoulou A, Fischer B, Chng SC et al. Mutations in PYCR1 cause cutis laxa with progeroid features.* First co-author. Nature Genetics, 2009 Sep; 41(9):1016-21.