A record number of researchers attended the 5th Annual Meeting of the Minds scientific meeting, held March 9 – 10 at the HPS Network Conference. In all 46 physicians and scientists, all working on various aspects of research related to Hermansky-Pudlak Syndrome, gathered to share findings and plot future goals.

“It was amazing to watch so many great minds together,” said Donna Appell, Executive Director and Founder of the HPS Network, “It is exciting how quickly this meeting has grown, and how much work these great minds are getting done toward finding better treatments, and someday, the cure.”

For the first time, 11 scientific posters were presented at the meeting, a tradition the scientists intend to carry forward.

Session one of the meeting addressed the gastrointestinal complications of HPS. Dr. Gochuico from the National Human Genome Research Institute, presented about the clinical and pathological findings among people affected by HPS seen at the National Institutes of Health as part of the natural history study. Professor Holm Uhlig from Oxford University in England presented about defective antimicrobial autophagy caused by HPS genetic variants and its relevance for inflammatory bowel disease.

The second session addressed pre-clinical models of pulmonary fibrosis in HPS. Dr. Jonathan Kropski spoke about new insights into genetic risk in familial interstitial pneumonia. Dr. Michael Marks from the University of Pennsylvania talked about AP-3 and BLOC complex functions in protein sorting to melanosomes. Dr. Ross Summer from Thomas Jefferson University in Pennsylvania talked about increased matrix metalloproteinase activity as a marker of HPS lung disease. Dr. Freddy Romero, also from Thomas Jefferson University, talked about hyperactivation of the 26S proteasome in the lung epithelium of HPS type 2 mice. Dr. Susan Guttentag of Vanderbilt University spoke about re-energizing interest in HPS 1 function in lung epithelium. Dr. Hans-Willem Snoeck of Columbia University in New York spoke about modeling HPS-associated pulmonary fibrosis using pluripotent stem cell-derived lung organoids.

The third session of the day focused on therapeutics for HPS and planning the next Meeting of the Minds in 2020. Melissa Lokugamage from Georgia Institute of Technology spoke about drug delivery vehicles using DNA barcoding. Dr. Yang Zhou from Brown University presented about targeting CRTH2 receptor in HPS lung disease. Dr. Resat Cinar from the National Institutes of Health’s National Institute on Alcohol Abuse and Alcoholism gave an update on the project to use MRI-1867 as a candidate drug for HPS pulmonary fibrosis. Dr. Christian Mueller from the University of Massachusetts gave a presentation about the meeting held regarding gene therapy for HPS in December, 2018 as well as potential strategies to develop gene therapy for HPS going forward.

“Sometimes as a patient it can seem like nothing is happening. That’s because you want the cure now and that’s not how finding cures works. But, since I was diagnosed with HPS in 2002, so much has happened in research,” says Heather Kirkwood, Vice President and Director of Communications for the HPS Network, “Now we, as the patient community, the patient family, have to do what we can to keep helping our researchers push onward toward our goal.”