Summer 2024 Newsletter

The highlight of the summer is fast approaching: the Project 8p Family & Science Conference will take place July 31 to August 3 in Denver, Colorado. Here I preview the conference science agenda.

The last time 8p families and researchers gathered together to break bread over science and shared lived experience was at the Moving Mountains conference in Denver Colorado in the Summer of 2021, two years after Project 8p was launched by Bina Maniar. Project 8p was joined by two other foundations focused on a neurodevelopmental chromosomal disorder, Dup15q Alliance and Ring14 USA.

In spite of the headwinds of the pandemic, which ground so many rare disease projects to a halt, Project 8p was successfully able to nucleate a small but passionate community thanks in measure to securing CZI’s Rare As One grant funding. Project 8p made the first seed investments in a tiny portfolio of sponsored projects. A few months after the Moving Mountains, Project 8p brought me on as Science Director and we were off to the races.

Three years later, I’m thrilled to report that the 8p community — expanding in number of families and researchers and dollars fundraised, and more organized than ever — returns to Denver to inaugurate the next exciting era in 8p research. If the preceding chapter could be encapsulated as going zero to one, this next phase will be defined by acceleration: follow-on investments in successfully seeded projects will be deployed alongside fresh investments in emerging research opportunities. Overarching scientific goals are to cement discoveries into drug candidates and initiate the first clinical studies.

My tenure as Science Director is coming to end next month and I will transition into my new role on Project 8p’s Medical and Scientific Advisory Board (MSAB). There’s no person better suited to take the helm as Science Director than Dr. Barbara Celona, with whom I’ve had the pleasure of working on 8p and other rare diseases with at Perlara for the last few years. Barbara is joined by Project 8p’s new Executive Director, Dr. Lauren Chaby, who officially begins in her new role this week.

With that preamble out of the way, we want to thank our sponsors, Somalogic, Integrated Biosciences, Unravel Biosciences, and the Family Care Center for their support.

The science agenda supports facilitating information exchange, creative brainstorming and collaborative networking. Project 8p has two specific deliverables we want to emerge in the wake of the conference: (1) collaborative publication of peer-reviewed 8p Research Roadmap; (2) multi-PI grant proposals to advance inter-disciplinary research. The original 8p research roadmap was published in October 2022. A research roadmap refresh was published earlier this year.

Project 8p’s founder and CEO Bina Maniar will kick off the festivities with a morning keynote presentation called Early Onset Greatness on Thursday August 1, followed by a formal introduction of Dr. Lauren Chaby as Executive Director. I’ll take the stage next along with Dr. Barbara Celona to present a research roadmap update. Then we’ll hear a caregiver story to ground us to the daily challenges experienced by 8p families.

Dr. Terry Jo Bichell, founder of CombinedBrain, will present the 8p disease concept model, revealing connections between symptoms, concerns, and daily life impacts. The 8p disease concept study offers insights for research, clinical trials, and improving the lives of 8p heroes and caregivers.

Wrapping up the morning science track, Patient Engagement Manager, Kaiti Syverson, will summarize the My Hero Initiative, while Tobias Bruenger, Ph.D., will delve into the genotype and phenotype characterizations of 8p heroes. They will unveil the Chromosome 8p Insights Portal, an interactive portal for researchers dedicated to understanding Chromosome 8p disorders.

In the afternoon of Thursday August 1, there will be two Think Tank sessions. The first Think Tank will be a moderated discussion where we will delve into knowledge highlights and gaps. This session will also explore convergences between 8p and other chromosomal disorders (e.g. Down Syndrome). We’ll be joined by special guest Julia Vitarello, who will share her “Mila to Millions” vision as inspiration. The second Think Tank will feature discussion of grant opportunities with the aim of formulating a collaborative grant strategy among principal investigators.

Day Two of the conference starts in the morning of Friday August 2 with what we’re calling the Project 8p Medical Fair. Presenting companies and organizations will have booths where attendees will have a hands-on opportunity to explore a diverse array of therapies, devices, and interventions, all focused on cutting-edge technologies such as neuromodulation.

Building on insights from the previous day’s 8p Think Tanks, this twofer session will be dedicated to ideating and drafting specific aims for grant submissions. The second goal is to consolidate insights and connections into an outline for a peer-reviewed 8p Research Roadmap and define authorship roles.

Friday August 2 in the afternoon is devoted to family friendly and scientifically accessible presentations by Project 8p-funded researchers, with speaking slots given to the junior scientists who actually performed the work at the lab bench. Here’s the presenter lineup:

• Chromosome Engineering to Restore Euploidy in Cells with invdupdel 8p

  Presented By: Sophia Lee, M.S. (Dr. Jason Sheltzer’s lab, Yale University)

• Exploring Shared Symptoms in Genomic Imbalance Disorders to Uncover Underlying Causes

  Presented By: Ashley Watson, Ph.D. (Dr. Hiruy Meharena’s lab, UCSD)

• Studying the Molecular Mechanism of Chromosome 8p Disorder Using Brain Organoids Derived from 8p Heroes

  Presented By: Yanning Zuo, Ph.D. (Dr. Francesca Telese’s lab, UCSD)

• Understanding the Cellular Stress Responses in 8p Cells

  Presented By: Felix Wong, Ph.D. & Max Wilson, Ph.D.

  (Integrated Biosciences)

• Chromosome Dosage Modeling and Correction in Viable Human Aneuploidy & 8p CNVs

  Presented By: Stefan Pinter, Ph.D. (University of Connecticut)

• Health Canvas: A Natural History Study Expansion

  Presented By: Ethan Perlstein, Ph.D, (Project 8p Foundation)

You might be wondering what the 8p Health Canvas study is? My final Substack that will drop first thing next week will describe in greater detail what the 8p Health Canvas study entails. In short, we are expanding the scope of the Project 8p sponsored, IRB-approved patient registry and biosample collection protocol for assessing genotype-phenotype relationships in 8p heroes. The purpose of the study is to bring the 8p community one step closer to data-driven and hypothesis-driven interventional clinical trials. You don’t often get 30+ 8p heroes in the same room at the same time, so we’re taking advantage of the conference to gather as much precious 8p “in hero” data as possible.

We wrap up Day Two with a panel discussion with Parth Amin, Co-Founder and COO, Eysz, called The Digital Frontier: Exploring the Promise of Digital Biomarkers. We’ll tap into the digital frontier and explore the transformative potential of digital biomarkers to revolutionize diagnosis, treatment monitoring, and patient care in neurological settings.

Day Three on Saturday August 3 will be focused on families and all things clinical. Patient Engagement Manager, Kaiti Syverson, will debut Project 8p’s Patient Navigator and explore the transformative potential of the Chromosome 8p TeleEcho, a global learning program for providers and educators dedicated to advancing 8p knowledge and care. The afternoon will end with a Rapid Connect in small groups with the Multidisciplinary Clinic team from Children’s Hospital Colorado, who will first provide an update on their clinical outcomes and advancements towards care recommendations:

• Neurological Symptoms in 8p Heroes

  Presented By: Dr. Scott Demarest & Dr. Megan Abbott

• Development and Behavior in 8p Heroes

  Presented By: Dr. Andrea Miele

• Optimizing Care for 8p Heroes

  Presented By: Dr. Margarita Saenz & Dr. Kourtney Santucci

We’re estimating that 150+ people, 30+ 8p families and nearly two dozen researchers will be attending the conference in-person, and others will be joining virtually. See you all next week in the Mile High City, Denver.