The choreography of development is a delicate dance.

Beginning in utero, chromosomes, DNA, genes, and RNA twirl, tap, and sashay their way in a precise pattern. A missed or missing step that changes the routine causes body and brain functions to go awry – as is the case with many intellectual and developmental disabilities (IDD).

Fragile X syndrome is the most commonly known single-gene cause of inherited IDDs, including autism. Scientists know the misstep in this syndrome is in the gene FMR1. FMR1 is responsible for making the protein FMRP, which is necessary for typical brain development.

Thanks to Lynne Maquat’s seminal discovery and research on nonsense-mediated mRNA decay (NMD), fragile X syndrome entered her radar.

NMD is a cellular quality-control mechanism that plays a role in both healthy and disease states, and her lab discovered that it is overactive in people with fragile X.

Learn more about the complex NMD pathway and the collaborations between Maquat and other University scientists. With funding from the National Institutes of Health (NIH) and the FRAXA Research Foundation, they aim to gain a deeper understanding of the sophisticated mechanisms related to NMD that will contribute to developing new drug therapies for genetic disorders such as fragile X syndrome, cystic fibrosis, and hundreds of others.

Forty University faculty members, staff, and students will demonstrate augmented, virtual, and extended reality (AR/VR/XR) projects at RIT’s 7^th annual Frameless XR Show from 1-5 p.m. next Friday, Nov.18 at the MAGIC Spell Studios SoundStage.

The projects include:

• A BachDuet interactive web program that enables users to jam with a deep learning model trained on Bach chorales.
• A VR alchemical laboratory based on real 17^th century text from the Rossell Hope Robbins Library.
• An AR system to boost participation and productivity in group meetings.
• Even a virtual craft shop using a VR headset that allows users to create their own shoe designs.

Participation is free. Find descriptions and members of each of the projects here.

The Center for Health + Technology (CHeT) received a $2.9 million award from the U.S. Department of Defense to develop tools that will provide a platform for patients to provide insight into the merit of promising therapies during clinical trials for range of chronic diseases.

The study will advance clinical trial readiness by developing research instruments for mitochondrial disease, cardiomyopathy, rheumatoid arthritis, and dystonia.  There are few effective treatments available for these four life-altering, chronic diseases. The study will contribute to the well-being and function of military personnel, their families, and civilians while improving U.S. combat readiness and performance.

“Patient reported outcomes instruments improve clinical trial efficiency, detect early changes in patient health, focus on the symptomatic areas that are most important to specific populations, ensure the relevance of future treatments to patients, and provide a mechanism for patients to provide direct input into a treatment’s effectiveness,” says neurologist Chad Heatwole, who is the principal investigator of the new grant and the director of CHeT.

Heatwole and his research team have developed and rigorously validated more than 100 disease-specific patient reported outcome (PRO) instruments over the last 15 years, including those for adult and pediatric populations with neurological conditions, neuromuscular diseases, movement disorders, inflammatory bowel diseases, and cancer. Collectively, these instruments are translated and validated in 12 languages and are used worldwide as sensitive and clinically relevant outcomes measures in therapeutic trials. Learn more.

University faculty regularly garner regional, national, and international awards and honors for their professional contributions to research, scholarship, education, and community engagement. Recent recipients:

Laura Calvi, the SKAWA Foundation Professor in Endocrinology and Metabolism in the Department of Medicine and a leader at the Wilmot Cancer Institute, has been voted president-elect of the American Society for Bone and Mineral Research (ASBMR).

Anaar Desai-Stephens—an assistant professor of ethnomusicology at the Eastman School of Music and an affiliate faculty member of the Susan B. Anthony Institute for Gender, Sexuality, and Women’s Studies—has received the American Association of University Women’s American Postdoctoral Research Leave Fellowship.

Ray Dorsey, a professor of neurology, received the 2022 Tom Isaacs Award for his Parkinson’s disease research that has led to multiple levels of action in combating the disease.

Nadine Grimm, an assistant professor of linguistics, is the recipient of the Linguistic Society of America’s 2023 Bloomfield Book Award for A Grammar of Gyeli.

Aaron Hughes, the Philip S. Bernstein Chair of Jewish Studies and the Deans Professor of the Humanities in the Department of Religion and Classics, has been awarded the Fulbright Distinguished Chair in North American Studies at Carleton University in Ottawa for the 2022­–23 academic year.

Rose Kennedy, an assistant professor of chemistry, has been named a 2022 Packard Fellow by the David and Lucile Packard Foundation.

Duncan Moore ’74 (PhD), the vice provost for entrepreneurship and the Rudolf and Hilda Kingslake Professor of Optical Engineering, received the Legacy Award from the Global Consortium of Entrepreneurship Centers.

Kerry O’Banion, director of the Medical Science Training Program at the School of Medicine and Dentistry and a professor of neuroscience, has received the 2022 MD-PHD National Association Dr. Bert Shapiro Award for significant contributions to physician-scientist training on the national level.

Ronald Schwartz, a professor of medicine, cardiology, and imaging sciences, received the Distinguished Teacher and Clinician Award from the American Society of Nuclear Cardiology.

Learn more about their awards and accomplishments.

David J. Barnard, microbiology and immunology, 1 p.m. November 17, Medical Center/K-207 (2-6408). Hybrid zoom link.
Investigating the Role of Mycobacterial DD-carboxypeptidases in the Synthesis of 3-3 Crosslinks.
Advisor: Martin Pavelka

Unsure of where to publish your research? Join a zoom workshop hosted by the Office of the Provost from 11 a.m. to 12:30 p.m. next Tuesday, November 15, to learn some tips and tricks to finding the best outlet for your work.

There is also an asynchronous activity to help you set up your ORCID profile. This session will give you the tools to navigate the publication process with confidence. Register here.