Research collaboration

We are interested in continued study of individuals with GAND and GATAD2B variants to further characterize the genotype-phenotype relationships.

We are specifically looking for individuals with missense, splice-site, intragenic and polygenic deletions. We are also looking for atypical presentation of GAND in children with truncating nonsense and frameshift variants.

Our investigations involve clinical and basic science research to better characterize GAND and NuRDopathies. This work includes retrospective and prospective clinical analyses of GAND patients using video-interviews with parents and collection of clinical data that includes brain MRIs and EEGs. Our basic science research, in collaboration with the Young and Walz laboratory (UMiami School of Medicine), models GAND and other NuRDopathies using several different mouse and human IPSC models to better characterize the clinical and molecular consequences of GATAD2B variants. Evaluations of neurogenesis and corticogenesis with these models are ongoing.