Project 8p Research Newsletter - November 2023
💬 Research Question of the Month
In December, 8p researchers and advisors will meet to review and update Project 8p’s two-year research plan. What would you like to see added to the research plan?
Share your thoughts in the comments section!
🔬Research Highlight
The most recent Segment to be added to the Project 8p Research Plan is the Fifth Segment focused on Augmentative Devices and Assistive Technologies. At the October Research Roundtable we talked with 8p families about their successes and struggles with various assistive technologies that they use or have tried with their 8p heroes.
Neuroaugmentative technologies are a particularly exciting and active area of research in this field. In the near future, such technologies have the potential to help control seizures, and improve speech and motor function. Project 8p is actively seeking out companies and researchers developing these technologies in order to bring their devices to 8p heroes. At the October Roundtable, we were joined by ActiPulse Neuroscience CEO Adrien Châtillon and CSO Gabriel Villafuerte, who shared their non-invasive brain technology that is being developed to treat Major Depressive Disorder, enhance drug delivery to the brain, and treat brain cancers, all by applying magnetic pulses to the brain.
Watch the Roundtable on YouTube:
👩🔬Featured 8p Researchers
This month, we are highlighting more of the talented researchers who are a part of the Project 8p Research network. They each bring unique expertise and perspective to their fields and to Chromosome 8p disorder research. You can find the first and second installations of this series in the September and October Newsletters on the Chromo 8p Substack.
Dr. Aryeh Warmflash - Associate Professor, CPRIT Scholar in Cancer Research, Department of Biosciences, Rice University.
With a B.A. in Physics and Mathematics and a Ph.D. in Physics, Dr. Warmflash brings a particularly unique perspective to 8p Research. His research combines quantitative biology, physics, mathematics, and engineering to enable insights into early embryonic development and cell signaling. As a postdoctoral fellow working with Dr. Brivanlou and Dr. Siggia at The Rockefeller University, Dr. Warmflash demonstrated that stem cells confined to a small area self-organize into germ layers, reminiscent of the early embryo (Warmflash et al. 2014). Since then, his lab at Rice University has used this method and others to uncover fundamental aspects of cellular communication (Britton et al. 2019, Heemskerk et al. 2019, Nemashkalo et al. 2017, Liu et al. 2022) .
Project 8p has partnered with Dr. Warmflash to investigate the effects of Chromosome 8p rearrangements and candidate driver genes on early embryonic development. Micropatterning experiments using iPSCs from an 8p hero with inversion/duplication/deletion of 8p showed that the cells display distinct changes in patterning. His lab is now comparing these results with those from cells harboring different 8p rearrangements, or single-gene deletions, to test hypotheses about the contributions of different genes to the observed phenotypes.
Dr. Warmflash is a recipient of the prestigious NSF CAREER Award, the Charles W. Duncan Jr. Achievement Award for Outstanding Faculty (Rice University), and was named a 2017 Simon’s Foundation Investigator. Recently, Dr. Warmflash was awared a $1.9 million dollar, five-year grant from the NIH to model human ectodermal development (Rice News, May 2023).
Learn more about Dr. Warmflash’s research:
Modeling Development and Disorders with Human Embryonic Stem Cells - Project 8p Research Roundtable, August 2022
Dr. Glennis Logsdon - Postdoctoral Scholar, Department of Genome Sciences, University of Washington School of Medicine.
Dr. Logsdon is an expert in centromere biology, and in developing and applying wet-lab techniques, long-read sequencing technologies, and computational methods to resolve complex DNA sequences. Using these techniques, she determined the first complete sequence of a human autosomal centromere (Logsdon et al. 2021, Logsdon and Eichler 2021), followed by those of all human centromeres (Altemose et al. 2022). This had been one of the major gaps in previous genome assemblies, and her work contributed to a large group effort to complete the human genome (Nurk et al. 2022, The New York Times). Dr. Logsdon’s interest in centromere biology also extends to the engineering of artificial chromosomes, of which centromere formation is a key challenge. In 2019, she created a streamlined approach to the construction of human artificial chromosomes that bypasses centromeric DNA (Logsdon et al. 2019).
After finishing the first telomere-to-telomere assembly of Chromosome 8 (Logsdon and Eichler 2021), Dr. Logsdon turned to doing the same for Chromosome 8 with a deletion and inversion/duplication of 8p, resolving the exact breakpoints of the rearrangement for the first time. Dr. Logsdon and Dr. Eichler plan to expand this work to more 8p heroes and their families to answer questions about how 8p rearrangements arise, as well as the molecular basis for the phenotypic variability among 8p heroes.
Dr. Logsdon is soon to be an Assistant Professor of Genetics at the University of Pennsylvania Perelman School of Medicine. Her lab will study centromere variation, evolution, and function, and will apply their findings to the engineering of artificial chromosomes. She is a recipient of the highly competitive NIH K99/R00 Pathway to Independence Award, as well as an NIH Ruth L. Kirschstein F32 Postdoctoral Fellowship Award, and NIH T32 Cell and Molecular Biology Training Grant.
Learn more about Dr. Logsdon’s research:
Creating the First Complete Sequence Assembly of Chromosome 8 From an 8p Hero - Project 8p Research Roundtable, July 2023
💜 Family Corner
Our monthly research roundtables will be on a short hiatus during the months of November and December as we work on updating the 2024 Research Roadmap. Stay tuned for a Family-Friendly Research Update in January, where we will present the refreshed plan to you.
During this break, please check if your My Hero Initiative participation is up to date. We're thrilled to announce that we've reached 149 Heroes in the Chromosome 8p Registry, with nearly 100 participants completing all surveys. For assistance, please contact Kaiti Syverson at kaiti@project8p.org
Our 5 year old has autosomal recessive homozygous TUSC3 (loss of function). I believe it’s 8p22, but not exactly sure. He had his genetic testing done at University of Rochester Medical Center in Rochester, NY. Hopefully this research will benefit him. We would love to see a drug repurposing study done and eventually curative gene therapy. Don’t know if there is a database where the geneticist has to submit the genetic information. There are at least 2 other males in the USA who also have this disorder.