It is the great pleasure of the ACDA to announce Baylor College of Medicine in Houston, Texas, USA was recently awarded a NIH R01 grant in August 2023 in excess of $3.1 million for ACDMPV research over the course of four years ($793,392 per year). This multi-year study at Baylor hopes to identify new genetic variants, allowing for more precise diagnosis and prognosis of Lethal lung developmental disorders (LLDDs), facilitating more informative genetic counseling, and providing targets for development of potential in utero treatments for LLDDs and pulmonary arterial hypertension (PAH). It is Baylor’s hope their data will also help to better understand incomplete penetrance and variable expressivity phenomena in human genetics in general. The 2023 NIH grant award follows a 2017 NIH grant for $1,952,000 that explored how enhancers in chromosome 16q24.1, including long noncoding RNAs (lncRNAs), regulated expression of the FOXF1 gene responsible for ACDMPV.

The ACDA extends our heartfelt thanks to Dr. Pawel Stankiewicz (Project Leader for both the 2017 and the 2023 NIH grants) and Dr. Przemyslaw Szafranski at Baylor College of Medicine for their tireless efforts to secure substantial NIH funding. As background, R01 grants from the NIH are highly competitive and are known as the gold standard due to it being one of the most respected mechanisms of financial support in the medical research world.

Please join us in publicizing this tremendous and significant news by sharing this announcement. We look forward to providing updates on the results of the research through this NIH grant as we continue our steadfast mission to find the cause of and cure for ACDMPV.

None of this would be possible without the ongoing seed grants raised by families and friends affected by ACDMPV. Among other objectives, prior seed grants have helped Baylor accumulate and maintain the largest collection of DNA and tissue samples related to ACDMPV in the world and to detect mutations and deletions therein. The smaller seed grants (approx $50,000) issued in recent years through money raised by ACDMPV affected families and friends has helped to collect data for use in the 2017 and 2023 larger multi-year government grants, which was the exact purpose of those seed grants. We will continue to focus on annual seed grants to investigate ACDMPV from all perspectives, including genetic, biological, clinical, pathology, etc. Our thanks, always, to the numerous individuals and organizations who continue to support our very important mission from the ground up.

NIH 2023 Project Information

Title: Etiology and pathogenesis of lethal lung developmental disorders in neonates
Project Leader: Pawel Stankiewicz, MD, PhD
Awardee Organization: Baylor College of Medicine
Total Funding:  $3.1 million+ ($793,392 per year)
Project Start Date: August 15, 2023
Project End Date: June 1, 2027
Project Number: 1R01HL165301-01A1
Public Health Relevance Statement: PROJECT NARRATIVE – The main focus of our research is studying the role of SHH-FOXF1 and TBX4-FGF10 signaling pathways in epithelial-mesenchyme interactions during human lung development as well as in etiology of lethal lung developmental disorders (LLDD) and pulmonary arterial hypertension (PAH) in neonates. In particular, we are interested in an interplay between the pathogenic coding variants and the regulatory non-coding regulatory elements of the FOXF1, FENDRR, TBX4, and FGF10 genes, implied in complex compound inheritance of these disorders. We hypothesize that (i) non-coding variants are promising therapeutic target and (ii) that a little known transmembrane protein TMEM100 mediates SHH-FOXF1 and TBX4-FGF10 signaling during human lung development.