Researchers interested in the EHMT2 gene have been connecting to share cases and collaborating on functional studies. Two main research lines are currently underway:
o Dr. Ana Krepischi (University of São Paulo, Brazil) is leading a project focused on the recessive hypothesis, aiming to identify additional patients with potentially deleterious biallelic variants in EHMT2. The team is applying cell-based models to study the underlying molecular mechanisms with a multiomic approach.
o Dr. Maria J. Barrero (Instituto de Salud Carlos III, Spain) is coordinating a study investigating de novo heterozygous variants affecting the SET domain of EHMT2. Her research involves cellular models to explore the functional consequences of such variants.
o Dr. Lenka Noskova (First Faculty of Medicine, Charles University in Prague, Czech Republic) is also involved in the studies of de novo heterozygous variants in EHMT2. She is involved in structural and functional studies of mutated proteins and in mouse model generation and characterization.
Researchers with relevant cases or interest in collaboration are encouraged to get in touch (ana.krepischi@ib.usp.br; mj.barrero@isciii.es; lnosk@lf1.cuni.cz)
EHMT2