AFTD awarded its 2018 Pilot Grants to Paschalis Kratsios, Ph.D, of the University of Chicago, and Liam Chen, Ph.D., of Johns Hopkins University. The Pilot Grant program annually confers funding to early-career investigators focused on FTD.

“Os Pilot Grants da AFTD estabelecem as bases para as descobertas científicas de amanhã, fornecendo financiamento inicial para projetos de pesquisa inovadores”, disse Debra Niehoff, Ph.D., gerente de pesquisa da AFTD. “O programa exemplifica a forma como o AFTD prioriza a ciência de ponta no futuro da pesquisa FTD.”

Dr. Kratsios received the 2018 Basic Science Pilot Grant. He will use the funds to re-engineer the genome of the roundworm Caenorhabditis elegans in order to study human disease-causing mutations. By developing transgenic worms with the C9orf72 mutation – the most common seen in FTD – Dr. Kratsios hopes to learn why the gene defect has such a toxic effect on brain cell degeneration.

“Camundongos geneticamente modificados têm sido um dos pilares da pesquisa de FTD”, disse o Dr. Niehoff. “Em última análise, este novo modelo animal pode apontar para novas estratégias para o desenvolvimento de tratamentos para FTD”.

Dr. Chen recebeu o Susan Marcus Memorial Fund Clinical Research Pilot Grant. Ele planeja examinar a transcrição das informações necessárias para transformar proteínas codificadas em genes no RNA mensageiro molecular (mRNA).

“Before it can serve as a template for protein synthesis, mRPA first be edited by cutting and sewing the needed for a job, just as a film editor splices footage to craft a movie,” Dr. Niehoff said. “In healthy brain cells, the protein TDP-43 acts as a quality control manager during the editing process, but TDP-43 oversight is lost in FTD. As a result, the mRNA contains ‘extra footage’ that can lead to the formation of defective proteins.”

O Dr. Chen tentará identificar esses fragmentos estranhos de RNA, chamados de éxons crípticos, no tecido cerebral FTD pós-morte. Exons crípticos específicos de FTD poderiam potencialmente servir como biomarcadores ou pontos de partida para o desenvolvimento futuro de medicamentos.