What was your consortium's most significant achievement from the past year?
Joseph Hatch, MPH, Project Manager, RBDC: Key start-up activities for our new consortium have been accomplished in the previous year such that we should be poised to initiate our primary natural history study relatively soon into year 2 of the award.
What did this achievement accomplish?
Hatch: We have established both research protocols we proposed and are in the final stages of external advisory scientific review and NIH approvals, populated our External Advisory Committee (EAC) and Observational Study Monitoring Board (OSMB), are mid-process of setting up all required Data Use Agreements (DUAs) and Material Transfer Agreements (MTAs), and have identified and are completing contracting with our required vendor partners for the study. We've established agreements with additional collaborators to get key lung explant materials for the transcript and spatial -omics-heavy aims of Project 2 Aim 1.
How will this impact the rare disease community?
Hatch: The overall thrust of the RBDC is to understand the convergent and divergent clinical course and biological mechanistic underpinnings of four rare lung disease groups (primary ciliary dyskinesia, alpha-1 antitrypsin (AAT) deficiency, humoral immune deficiencies, and autosomal dominant hyper IgE syndrome) which lead to bronchiectasis. This is the first step towards that overall goal.