UMCUniversity of Massachusetts Chan Medical School · Genetics
Genetic Editing and Therapy Lab
Erik J. Sontheimer · Worcester, Massachusetts
Research Focus
Dr. Erik J. Sontheimer's lab focuses on developing cutting-edge genetic editing technologies to treat diseases, specifically frontotemporal dementia caused by granulin mutations. The team uses precision genome editing techniques like base and prime editing to accurately correct genetic mutations in neuronal cells and evaluate their effectiveness in mouse models. This innovative approach aims to create safer and more effective therapies for neurological disorders that currently lack treatment options.
gene editingprecision medicinefrontotemporal dementiagranulinbase editingprime editingneurosciencetransgene deliveryAAV
Research Aims
5AIM 01Develop precision editing strategies to correct granulin mutations causing frontotemporal dementia.
AIM 02Test the effectiveness of base and prime editing in patient-derived neuronal cells.
AIM 03Evaluate editing strategies in mouse models of frontotemporal dementia.
AIM 04Create safer delivery methods for genome editing technologies in vivo.
AIM 05Enhance the specificity and efficiency of gene editing to minimize off-target effects.
Skills the Lab Values
CRISPRbase editingprime editinginduced pluripotent stem cell manipulationviral vector designmouse modelingtransgene expressionneuron culture techniquesmolecular cloning
Output against the department
Publications163top 48% of dept.124th of 259
this lab
most publishedleast published
Citations20ktop 29% of dept.76th of 259
this lab
most citedleast cited
Career totals from OpenAlex, compared against labs that share a department. A department spans everything from one paper to tens of thousands, so bar heights are on a log scale — otherwise the largest lab would flatten every other bar to a line.