SEMNANI FAMILY FOUNDATION SPRING
PROMISE AND PROGRESS
The Semnani Family Foundation’s support of three different projects within the Center for Genomic Medicine has allowed new ideas to take root, accelerated innovations in patient care, and granted a new cohort of bright and eager students the opportunity to explore careers in genomics over the past year. Your vision and generosity empower us to push the boundaries of human understanding, and we are grateful to partner with you as the foundation continues to open doors to communities historically underrepresented in STEM careers.
This publication celebrates the significant impact of your philanthropy. The updates shared here are a testament to the transformative power of research and the crucial role of philanthropy in creating a healthier, more vibrant world for all.
We invite you to learn more and see firsthand how, together, we are shaping a brighter future through discovery, innovation, and education. Thank you for your commitment to making meaningful change and for sharing our unwavering belief that what we create today can improve lives for future generations.
We are sincerely grateful for your partnership and continued support of genomic research and education.
Lynn Jorde, PhD
Co-Director, Center for Genomic Medicine
Mark and Kathie Miller Presidential Endowed Chair in the Department of Human Genetics
Executive Director, Utah Genome Project Professor, Department of Human Genetics
Martin Tristani-Firouzi, MD
Co-Director, Center for Genomic Medicine
H. A. and Edna Benning Presidential Endowed Chair Professor, Department of Pediatrics, Division of Cardiology
GRANT UPDATES
Robin M. Shaw, MD, PhD
Nora Eccles Harrison
Presidential Endowed Chair Director, Nora Eccles
Harrison Cardiovascular Research & Training Institute Professor, Spencer Fox Eccles School of Medicine
TingTing Hong, MD, PhD
Associate Professor, Department of Pharmacology & Toxicology, College of Pharmacy
Jing Li, PhD
Associate Instructor, Nora Eccles Harrison Cardiovascular Research & Training Institute
New Gene Therapy Aims to Reverse Heart Failure
Robin Shaw, MD, PhD, and his team set out to discover whether a new gene therapy could reverse the effect of heart failure and restore heart function in a large animal model. The team found that the therapy increases the amount of blood the heart can pump and dramatically improves survival, in what a paper describing the results calls “an unprecedented recovery of cardiac function.”
To test the therapy, Dr. Shaw’s team needed to be able to induce heart failure in large animal models in a faster, more controlled manner. Semnani Family Foundation funding allowed the team to obtain and implant pacemakers that pace as high as 170 beats per minute; in contrast, the typical pacemaker maximum setting is 150 beats per minute. The higher rate induced heart failure faster and in a more controlled manner, helping the rigor and efficiency of their experiments.
The formal FDA review of this therapy in January 2025 was highly supportive. Dr. Shaw expects to complete the required safety and toxicity studies by summer 2025 so that the team can obtain the final approval and initiate phase I clinical trials of the gene therapy for heart failure by the end of calendar year 2025. The therapy is expected to introduce a new and highly efficacious paradigm of heart failure management for millions of Americans. Semnani funding has been critical in allowing the team to move so efficiently towards this goal. Thank you!
International Whole Genome Sequencing Collaboration
The study funded by the foundation can be considered complete. At the outset of the project, the Utah team aimed to accomplish the following:
1. Deploy the Mosaic software to serve as a data management and analysis platform for the Undiagnosed Diseases Network International (UDNI) database
2. Work with a UDNI “champion” from a low/middle-income nation to identify a patient(s) that would benefit from whole genome sequencing (WGS) and analysis
3. Sequence and analyze genomic data for the identified patient(s) and make this available in Mosaic
4. Convene a diagnostic team (under the advice of the UDNI Diagnostic Working Group) to analyze these patients
Key achievements include the Utah team’s creation of a UDNI-specific instance of the software tool Mosaic, which was set up and used to support a UDNI Hackathon in 2024. Working with Salman Kirmani, MD, at the Aga Khan University in Karachi, the team identified three patients who would benefit from genome sequencing and analysis.
Blood samples were collected from these patients and their families, WGS was performed, and genetic data was made available to an international group of collaborators. This international team was able to independently analyze the data and communicate with each other using Mosaic. Diagnostic variants were confirmed in two of the three cases, and analysis continues on the third. On a Zoom call involving the Pakistani and UDNI teams, the Pakistani team expressed how excited they were to be able to analyze their data and work asynchronously with their international
Gabor Marth, PhD H. A. and Edna Benning Presidential Endowed Chair Professor, Department of Human Genetics Director, USTAR Center
for Genetic Discovery
Alistair Ward, PhD USTAR Center for Genetic Discovery (former) Co-Founder, Frameshift
collaborators to uncover diagnoses.
Through this work, Mosaic has now been selected as the official collaboration tool for the UDNI’s work on all upcoming patient cases. Mosaic will also be the primary collaboration tool used at the next UDNI Hackathon in September 2025 at the Mayo Clinic in Rochester, Minnesota.
The project has been highly productive and impactful, and it will continue to empower clinical teams across the globe to collaboratively analyze undiagnosed cases. As the UDNI continues to add low/middle-income country data, it will expand opportunities to make a difference to more families struggling with rare diseases around the globe. The majority of patients enrolled in the UDNI (and other rare disease projects) have complex presentations that have evaded diagnosis with standard methods. As a result, aggregating as much data as possible for these cases is necessary to maximize the possibility of achieving a diagnosis.
With this in mind, the Utah team identified a number of future projects that would significantly expand the capacity of international collaborations to diagnose the undiagnosed. These include extending the platforms to enable secure sharing of important, identifiable patient information (images, photographs, etc.); allowing the processes to automatically check if patients have genetic variants that have been recently associated with genetic conditions; including more omics data; and enabling a large cohort of undiagnosed cases to be built so that genetic data can be used to aid in diagnosing new patients.
GRANT UPDATES
Genomics Summer Research for Magnificents (GSRM) Program
GSRM is a ten-week paid summer research program for undergraduate students interested in precision medicine, biosciences, or bioinformatics with a focus on genomics research, including the ethical, legal, and social implications of genomics research.
The GSRM internship provides placements in world-class genomics research groups, tailored mentorships, professional development workshops, and access to state-of-the-art equipment and technology. Interns can interact with a thriving community of scientists, physicians, and mentors who recognize the need to promote new opportunities for underrepresented students in the STEM workforce.
With the Semnani Family Foundation’s financial support, the Center for Genomic Medicine is uniquely positioned to advance the goal of developing Utah’s workforce by bringing additional students to the GSRM program. In 2025, GSRM received a record number of applications (88), with 31 coming from Utahbased applicants. We hope to host 15 students in 2025, with at least seven being Utah students. Semnani Family Foundation funding will allow GSRM to provide two of the anticipated 15 internship opportunities for students in 2025.
Financial Highlights
Cost: $13,080 per trainee for a 10-week internship plus related activities
We continue providing this program because we know it works. Since its inception in 2019, GSRM has supported 63 trainees, representing 44 universities and colleges across 30 states and US territories. Of the 42 who have graduated, 57% have been accepted into graduate programs (some at the University of Utah), and 31% are in biomedical sciences careers. Out of 63 accepted trainees, GSRM has hosted 18 undergraduate participants (29% total; three per year on average) representing five Utah universities. Four GSRM alumni have been recruited to programs at the University of Utah: two into the PhD in biosciences and neurosciences, one in the MD/PhD program, and one in the MD program.
Your impactful donation has allowed GSRM to continue despite the substantial cuts to National Institutes of Health funding. The Semnani Family Foundation, along with several other philanthropic partners, is providing a total of $105,000 in bridge funding, enabling this program to continue providing opportunities for curious, innovative, and motivated students.
WITH GRATITUDE
We are proud and grateful to partner with you on a collective mission of accelerating research and expanding educational opportunities, ultimately unlocking the potential for brighter, healthier futures. With your support, genomic medicine will continue to improve human health through faster diagnoses, better disease prevention, and personalized, value-driven care. Our integrated team of scientists, clinicians, and educators share a vision: harnessing the power of family-based genomics to prevent and cure disease in Utah and beyond.
We know the bedrock of exceptional achievement is empowering the most brilliant minds to push the boundaries of their abilities and venture into uncharted territories that will pave the way for a brighter and more promising tomorrow—thank you for your support in this critical endeavor.
Rachel Hess, MD, MS Associate Vice President for Research, Health Sciences Professor, Departments of Population Health Sciences and Internal Medicine
Co-Director, Utah Clinical and Translational Science Institute
H. A. and Edna Benning Presidential Endowed Chair
Center for Genomic Medicine
30 South 2000 East, Room 260
Salt Lake City, Utah 84112
uofuhealth.utah.edu/center-genomic-medicine
