Faculty Prize, University of Bern
Award for Excellence in Research at the University of Bern
Award for Excellence in Research at the University of Bern
Dr. Cosima M. Schmid was awarded the 1st Faculty Prize for a Dissertation by the Faculty of Medicine at the University of Bern for her medical doctoral thesis.
Her prize-winning research is entitled:
"LHX2 haploinsufficiency causes a variable neurodevelopmental disorder"
The dissertation makes a significant contribution to understanding genetically determined neurodevelopmental disorders. It identifies LHX2 haploinsufficiency as a disease cause and describes a variable clinical spectrum that includes developmental delay, intellectual impairment, autism spectrum phenotypes, and microcephalic features. The study was conducted in an international research context and combines clinical genetics with functional analyses.
The formal award ceremony will take place during the graduation ceremony of the Faculty of Medicine on 7 March 2026 in Bern.
Literature
Cosima M. Schmid, Anne Gregor, Gregory Costain, Chantal F. Morel, Lauren Massingham, Jennifer Schwab, Chloé Quélin, Marie Faoucher, Julie Kaplan, Rebecca Procopio, Carol J. Saunders, Ana S.A. Cohen, Gabrielle Lemire, Stephanie Sacharow, Anne O’Donnell-Luria, Ranit Jaron Segal, Jessica Kianmahd Shamshoni, Daniela Schweitzer, Darius Ebrahimi-Fakhari, Kristin Monaghan, Timothy Blake Palculict, Melanie P. Napier, Alice Tao, Bertrand Isidor, Kamran Moradkhani, André Reis, Heinrich Sticht, Wendy K. Chung, Christiane Zweier (2023).
LHX2 haploinsufficiency causes a variable neurodevelopmental disorder.
PMID: 37057675, DOI: 10.1016/j.gim.2023.100839. Genet Med. 25(7):100839.
Björn Kleijkers