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.

"AFTD:s pilotanslag lägger grunden för morgondagens vetenskapliga genombrott genom att tillhandahålla startfinansiering för innovativa forskningsprojekt", säger Debra Niehoff, Ph.D., AFTD:s forskningschef. "Programmet exemplifierar hur AFTD prioriterar banbrytande vetenskap i framtiden för FTD-forskning."

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.

"Genmanipulerade möss har varit en stöttepelare i FTD-forskningen," sa Dr Niehoff. "I slutändan kan denna nya djurmodell peka på nya strategier för att utveckla FTD-behandlingar."

Dr Chen fick Susan Marcus Memorial Fund Clinical Research Pilot Grant. Han planerar att undersöka transkriptionen av information som behövs för att göra proteiner kodade i gener till det molekylära budbärar-RNA (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.”

Dr Chen kommer att försöka identifiera dessa främmande bitar av RNA, kallade kryptiska exoner, i postmortem FTD-hjärnvävnad. FTD-specifika kryptiska exoner skulle potentiellt kunna fungera som biomarkörer eller utgångspunkter för framtida läkemedelsutveckling.