Over the past month, I’ve had the opportunity to interview each of our 2023 PMSF Grant Awardees for our podcast, The Phelan-McDermid Podcast: Sharing Research, Progress and Hope.
Thank You
First of all, thank yous are necessary. Our PMSF Grants are supported by the generous support of our donors. This work truly cannot be done without your help. We are so grateful for the opportunity to be able to offer these grants that further the research and science of Phelan-McDermid syndrome. In addition, all our applications were reviewed by family members of individuals with Phelan-McDermid syndrome. The process of reading and reviewing grant applications can be long and tedious, but without our family reviewers we could not have done it. It is important to have the voice of our family reviewers in the grant review process so that the research stays clinically-relevant and stakeholder-driven.
2023 Grant Awardees
- 2023 Neuropsychiatric Illness and Regression Fellowship (renamed) Shannon O’Boyle Memorial Grant Neuropsychiatric Illness – Milena Andzelm, MD, PhD
- “Investigating Immune and Autoimmune Mechanisms of Neuropsychiatric Decompensation in Phelan-McDermid Syndrome”
- 2023 PMSF Innovation Award – Bridgette Moffitt, PhD
- “Precision treatment for Phelan-McDermid syndrome: A novel pre-clinical approach”
- 2023 PMSF Translational Award – Julia Dallman, PhD
- “Validation of a Novel, Inexpensive, Home-Based Gastrointestinal Transit Test among People with Phelan-McDermid Syndrome”
Science Recap
- Neuropsychiatric Grant: Dr. Andzelm from Boston Children’s Hospital and her team are looking at whether individuals with Phelan-McDermid syndrome have any patterns of immune markers/autoimmune disease that may increase (or decrease) risk of neuropsychiatric illness. To do this, the research team looked at past medical records, asked family history questions about autoimmune disease, and collected blood samples. Data collection has started, and they are recruiting additional individuals with Phelan-McDermid syndrome WITH and WITHOUT neuropsychiatric illness. See below for recruitment details!
- Innovation Grant: Dr. Moffitt and her team at Clemson University grew Lymphoblastoid Cell Lines (LCLs) from participants with Phelan-McDermid syndrome to determine whether certain cell lines respond to certain medications. The idea is that certain cell lines (or a certain group of cell lines) may respond better to certain treatments than others, and another group of cell lines may respond more beneficially to another type of treatment. This is a critical step in personalized or ‘precision’ medicine. So far, the cell lines have been grown and initially subcategorized as “high” or “low” responders based on their metabolic profile. Now, the cell lines are being tested with the specific medications.
- Translational Grant: Dr. Julia Dallman at Miami University and her team of GI experts are looking to better understand and characterize GI transit, or “motility”, in Phelan-McDermid syndrome. In the first part of the study, they created and optimized a mobile-based app that allows caregivers to keep track of GI symptoms. Now, they are gearing up for the “blue muffin study” where individuals with Phelan-McDermid syndrome will consume the blue muffins and caregivers will keep track of GI symptoms, and specifically how long it takes for the blue muffin to go through the digestive system.
What else did we learn about investigators?
- Dr. Andzelm is part of our Neuropsychiatric Consultation Group
- Dr. Moffitt is the mother of twins who are keeping her plenty busy outside the lab
- Dr. Dallman is an avid bike rider who bikes to work and passes by manatees daily
Take Aways
- Research Challenges: Research can be tough, but it’s worth the effort! Our podcast mini-series showed that research rarely goes as planned and often faces unexpected delays. As someone with an academic research background, I know firsthand how projects can take longer than expected. A common delay comes from the Institutional Review Board (IRB), which ensures research is ethical and protects people’s safety. Since each IRB operates differently, multi-site studies can be particularly slow and challenging.
- New Investigators: We have new researchers in the field! Drs. Andzelm and Moffitt are early in their careers and have joined the Phelan-McDermid syndrome research community. It’s important for early-career researchers to receive funding from organizations like ours, as it helps them build experience and gather important data for larger (usually federal) grants. Plus, presenting at our family conference can inspire them to continue this work long-term.
- The Importance of Grants: Grants are crucial for research! Without funding, research can’t happen, and receiving grants helps secure more funding. We are proud to have funded research for the past two years and are now accepting applications for the third round. To keep supporting groundbreaking discoveries and better treatments for Phelan-McDermid syndrome, we rely on donations to PMSF. We are grateful so, so many of you have made our grant program possible.
Recruitment
- Dr. Andzelm is still recruiting for her study!
- Who: Participants with Phelan-McDermid syndrome who are age 10 years or older WITH OR WITHOUT any psychiatric illness or significant loss of skills.
- Where: Virtual!
- What: There will be an initial 30 minute virtual visit to enroll in the study. The questionnaires in Part 1 will take a total of about 30-90 minutes to complete. Part 2 will not require additional time beyond consenting for collection of medical records.
- For full details please visit: https://pmsf.org/current-open-research/
- Dr. Dallman will be recruiting for her “blue muffin” study soon! Stay on the lookout for more information!
Lastly, don’t forget to vote for what you want to hear on our podcast!