Penn and Miami Researchers Awarded $26 Million NIH Grant to Study Early Detection of ALS and Frontotemporal Dementia
Researchers launched a major effort to identify the earliest biological and clinical changes that signal whether people with a certain genetic variant will develop amyotrophic lateral sclerosis (ALS) or frontotemporal dementia (FTD), with an eye toward potentially treating these conditions before symptoms even show up. Funded by a $26 million grant from the National Institutes of Health, the effort is led by teams from the Perelman School of Medicine at the University of Pennsylvania and the University of Miami Miller School of Medicine.
The five-year study, spanning 13 research sites across the United States, focuses on a variant in the C9orf72 gene known as a “C9 expansion,” the most common inherited cause of both ALS and FTD. By identifying markers that predict when symptoms are likely to begin, researchers aim to establish the foundation for prevention trials that would entail intervention before irreversible damage to brain and nerve cells occurs.
“One of the biggest barriers to developing effective treatments for ALS and FTD is that we may be intervening too late, after the diseases have progressed too far,” said multi-principal investigator, Michael Benatar, the Walter Bradley Chair in ALS Research and a professor of neurology and public health sciences at the University of Miami’s Miller School. “If we can identify biological changes that occur before symptoms start, we can begin developing therapies that prevent disease rather than treating it after it starts.”
While the C9 expansion is the most common inherited cause of ALS and FTD, researchers cannot reliably predict whether a person carrying the C9 expansion will develop ALS, FTD, both conditions, or remain symptom-free.
Although ALS and FTD are increasingly recognized as related neurodegenerative diseases, research and clinical care have traditionally focused on one condition or the other. ALS specialists focus more on motor and muscular symptoms, while cognitive and behavioral changes may receive less attention. Conversely, FTD specialists typically monitor for changes in thinking and behavior, with less emphasis on motor function.
To address this gap, the researchers brought together expertise from both fields. The study combines neurologists or psychiatrists with motor and cognitive specializations, and neuropsychologists to evaluate participants across the full ALS-FTD spectrum.
“This disease does not fit neatly into one specialty,” said multi-principal investigator Corey McMillan, an associate professor of neurology and co-director of the Penn Frontotemporal Degeneration Center. “Understanding C9-related disease requires us to study cognition, behavior, and motor function together. By breaking down those silos, we hope to unlock key understandings of how these conditions develop and how we might be able to prevent it.”
The effort builds on lessons from recent advances in another inherited form of ALS caused by mutations in the SOD1 gene.
Research on the SOD1 gene, found in approximately 2 percent of people with ALS, showed that levels of a blood biomarker called neurofilament light chain rise approximately one year before symptoms begin. Those findings helped support the development of a prevention clinical trial called ATLAS to investigate whether the recently approved ALS treatment tofersen (Qalsody) can be used to prevent ALS symptoms before at-risk individuals begin to experience symptoms of motor dysfunction.
Researchers hope to achieve a similar breakthrough in carriers of the C9 expansion, but there is currently no equivalent single biomarker that identifies when a person carrying the variant is approaching symptom onset. While neurofilament light chain remains a key biomarker, it is also clear that it will be insufficient on its own.
Future disease prevention trials will require development of promising therapeutics that would be worthy of study in a prevention trial paradigm. However, the authors cautioned that there is much preparation to be done so that the field can initiate such trials when these experimental therapeutic candidates emerge.
Four Faculty Members in the School of Engineering & Applied Science Appointed to Endowed Chairs
Chris Callison-Burch: Raj and Neera Singh Professor
Chris Callison-Burch, a professor in the department of computer and information science, has been named the Raj and Neera Singh Professor.
Dr. Callison-Burch is best known for research in natural language processing and artificial intelligence (AI). His current work focuses on large language models and their use in longstanding challenges in AI, including reasoning, verification, model evaluation, and AI-generated text. His research also spans machine translation, paraphrasing, crowdsourcing, multilingual language technologies, and multimodal systems. As director of Penn Engineering Online’s master of science in engineering in artificial intelligence, he has helped shape Penn’s growing AI curriculum.
Dr. Callison-Burch earned a BS with honors in symbolic systems from Stanford University, an MS with distinction in computer science from the University of Edinburgh, and a PhD in informatics from the University of Edinburgh. He is a Sloan Research Fellow and has received faculty research awards from Google, Microsoft, Amazon and Facebook.
The Raj and Neera Singh Professorship reflects Raj and Neera Singh’s support for expanding AI education and research at Penn Engineering. Their philanthropy has supported leadership, faculty and infrastructure for Penn’s artificial intelligence initiatives, including undergraduate and online graduate programs that prepare engineers to use AI responsibly and imaginatively.
Andrew Tsourkas: Eduardo D. Glandt President’s Distinguished Professor
Andrew Tsourkas, a professor in the department of bioengineering, has been named the Eduardo D. Glandt President’s Distinguished Professor. He also serves as co-director of the Center for Targeted Therapeutics and Translational Nanomedicine and as undergraduate chair of bioengineering.
Dr. Tsourkas has established a leading research program in molecular imaging, targeted therapeutics and nanomedicine. His laboratory develops imaging agents, molecular probes and nanoscale-delivery technologies designed to detect disease earlier and improve treatment precision, particularly for cancer. His work combines engineering, chemistry, biology, and medicine to create tools that can identify molecular signatures of disease and deliver therapeutic agents to specific cells and tissues.
Dr. Tsourkas earned a BS from Cornell University, an MS from Johns Hopkins University, and a PhD from the Georgia Institute of Technology and Emory University. His scholarship and mentorship have been recognized across the field of bioengineering, and his laboratory’s translational work connects fundamental engineering research with clinical needs in oncology and precision medicine.
The Eduardo D. Glandt President’s Distinguished Professorships were established in 2015 by numerous donors to honor Eduardo D. Glandt, dean emeritus of Penn Engineering. The professorships recognize exceptional faculty whose scholarship, teaching and leadership reflect Dean Glandt’s legacy of academic excellence and interdisciplinary innovation.
Dongeun (Dan) Huh: J. Peter Skirkanich Professor
Dongeun (Dan) Huh, a professor in the department of bioengineering, has been named the J. Peter Skirkanich Professor. He also serves as chair of the bioengineering graduate group.
Dr. Huh is an internationally recognized pioneer of organ-on-a-chip technology. His research integrates microengineering, biomaterials, cell biology, and biologically inspired design to create microphysiological systems that reproduce important functions of human organs. These engineered models are used to study human physiology, disease mechanisms, drug responses, precision medicine, and environmental health while offering alternatives to conventional cell culture and animal testing.
Dr. Huh holds a BS in mechanical engineering from Seoul National University and MS and PhD degrees from the University of Michigan. He completed postdoctoral training at Harvard Medical School and Boston Children’s Hospital and later served as a technology development fellow at the Wyss Institute at Harvard University.
The J. Peter Skirkanich Professorship was established to honor J. Peter “Pete” Skirkanich, a Penn Engineering alumnus and an advisor, Penn Trustee, and campaign leader. His support helped make Skirkanich Hall possible and advanced the school’s research and educational mission. The professorship recognizes faculty whose scholarship and leadership embody his commitment to engineering innovation and the Penn community.
Michael J. Mitchell: Hibbert Professor
Michael J. Mitchell has been appointed the inaugural Hibbert Professor in the department of bioengineering. The appointment recognizes his leadership in genetic medicine, biomaterials and drug delivery.
Dr. Mitchell’s laboratory engineers lipid nanoparticles and related biomaterials to deliver RNA- and DNA-based therapeutics safely and effectively. His group works to overcome biological barriers that limit the delivery of genetic medicines and develops platforms with applications in cancer immunotherapy, vaccines, genome editing, autoimmune disease, infectious disease, and fetal and maternal therapeutics.
Dr. Mitchell earned a BE in biomedical engineering and an ME in materials science and engineering from the Stevens Institute of Technology, then earned an MS and PhD in biomedical engineering from Cornell University. He completed postdoctoral training at the Massachusetts Institute of Technology. His honors include a National Science Foundation CAREER Award, an NIH Director’s New Innovator Award, and Penn’s Emerging Inventor of the Year Award.
The Hibbert Professorship was endowed through the generosity of Alister M. Hibbert and Sharon N. Hibbert, supporters of Penn Engineering and parents of two Penn Engineering students.
The professorship recognizes outstanding achievement in research, teaching, and innovation in engineering health.
Penn GSE Receives $3 Million to Create the Milken Endowed Scholarship for Educational Entrepreneurship
- Penn’s Graduate School of Education (GSE) has received a $3 million commitment from the Gregory and EJ Milken Foundation to establish the Milken Endowed Scholarship for Education Entrepreneurship Fund. The gift will create permanent scholarship support for students in GSE’s education entrepreneurship MSEd program to attract and develop the next generation of education entrepreneurs, innovators, and changemakers.
- “Education entrepreneurship plays a vital role in advancing new ideas, technologies, and approaches that can improve learning and expand opportunity,” said Katharine O. Strunk, dean of Penn GSE and the George and Diane Weiss Professor of Education. “The Milken family has been a longstanding champion of Penn GSE’s leadership in education entrepreneurship, encouraging our faculty and students to pursue bold ideas that can transform education. This extraordinary gift will open doors for talented students to explore innovative and entrepreneurial opportunities regardless of their financial circumstances, while strengthening Penn GSE’s ability to cultivate the next generation of education innovators. We are deeply grateful to Gregory and EJ Milken for their generosity, partnership, and shared commitment to expanding what is possible in education.”
- The education entrepreneurship program is the world’s first master’s degree program focused on combining education, business, and innovation to address critical challenges in learning. Launched in 2014, this year-long hybrid executive program uses on-campus/online weekends and summer intensives, allowing professionals to work full-time while pursuing their degrees. In this program, faculty from Penn GSE, Wharton, Weitzman School of Design, and Penn Engineering teach students to launch, scale, and sustain solutions for K-12, higher education, workforce development, and educational technology. Graduates have launched more than 500 ventures.
- “As a venture capitalist, I have seen how an entrepreneurial mindset can unlock opportunities,” said Penn GSE board member Gregory Milken. “EJ and I have witnessed firsthand how expanding educational opportunity through innovation and leadership has been instrumental in changing outcomes. Penn GSE’s Education Entrepreneurship program is helping to develop leaders who will bring fresh ideas and commitment to education, and we are honored to support these amazing individuals who have dedicated their life’s work to make a lasting difference in their communities.”
Penn Medicine, Independence Blue Cross, and Regent Surgical Launch Ambulatory Surgery Partnership
Penn Medicine, Independence Blue Cross (IBX), and Regent Surgical (Regent) have announced a first-of-its-kind strategic partnership designed to rapidly expand access to high-quality outpatient surgical care across the region. Through an innovative development model, the collaboration will support the creation of at least 18 ambulatory surgery centers (ASCs), accelerating the growth of one of the region’s largest outpatient surgery networks and bringing care closer to patients and communities.
The three organizations are launching a new company, bringing their distinct strengths together under one roof. Penn Medicine brings nationally recognized clinical expertise and a leading physician network. IBX contributes deep experience in improving access, affordability, and the health care experience for members, while Regent adds decades of expertise in developing, operating, and scaling ASCs across the country. Together, the organizations are uniquely positioned to expand patient access to high-quality surgical care in outpatient settings across the region.
“This partnership will help us meet growing demand for outpatient surgery while driving down the cost of care in our region and keeping Penn Medicine’s standards for clinical excellence at the center of every decision,” said Kevin B. Mahoney, CEO of the University of Pennsylvania Health System. “By expanding access to appropriate procedures in convenient, high-quality outpatient settings, we can give more patients affordable options closer to home.”
ASCs make it possible for many procedures that once required a hospital stay to be performed safely in an outpatient setting, allowing patients to go home the same day. For common outpatient procedures, hospital facility fees can approach twice those charged in ASCs, reinforcing the opportunity to lower the total cost of care.
According to a study by Vizient, outpatient surgical volumes are projected to grow 20 percent through 2035, creating significant demand for additional ambulatory capacity. The new centers will support this growth across Penn Medicine’s service area, which spans Pennsylvania, New Jersey, and Delaware.
“Health care needs to work better for the people we serve, and that means creating more convenient ways to access high-quality affordable care,” said Kelly Munson, president and CEO of Independence Blue Cross. “MedPAC reports that Medicare payment rates for most services performed in ambulatory surgery centers are approximately 46 % lower than in hospital outpatient departments. This partnership brings together the right organizations to expand access, improve affordability, and deliver a better experience for the people and communities we serve.”
“The opportunity in front of healthcare isn’t simply to build more surgery centers,” said Travis Messina, CEO of Regent. “It’s to create the alignment required to move the right care to the right setting at scale. Penn Medicine brings extraordinary clinical expertise, Independence Blue Cross brings a unique perspective on affordability and value, and Regent brings the infrastructure and operating capabilities to translate that alignment into a scalable ambulatory strategy. Together, we have an opportunity to create a model that expands access, lowers costs, and preserves hospital resources for the patients who need them most.”
Beyond expanding access to care, the partnership is expected to create jobs, drive local investment, and contribute to economic growth across Greater Philadelphia. The actual timing, scope, and economic impact of future projects will depend on a variety of factors, including regulatory approvals, community needs, and market conditions.
As the network expands, the organizations hope to create lasting benefits for patients, communities, and the region’s health care system for years to come.
Penn Engineering and Penn Carey Law Launch Certificate of Study in AI and Law
The Penn Carey Law School and Penn Engineering have developed a new graduate certificate of Study in AI and Law, now available for students to pursue this semester.
One of more than a dozen certificates of study offered at the Law School, the program is open to all Penn Carey Law students in its first year, with in-person, on-campus graduate students from Penn Engineering able to join starting in fall 2027. Certificates of study provide opportunities to pursue credentials in additional areas, allowing for more concentrated coursework en route to specialized or focused career paths.
“One of the advantages of the Law School’s cross-disciplinary curriculum is our flexibility to create new, diverse programming in collaboration with the amazing grad schools across Penn,” said Amanda Aronoff, managing director of cross-disciplinary programs at Penn Carey Law and director of student engagement for the Francis J. & William Polk Carey JD/MBA program. “We’re very excited to meet the demand for more cross-disciplinary opportunities related to AI as it becomes increasingly important to the practice of law.”
The new offering is the first step in a broader, deepening partnership between Penn Carey Law and Penn Engineering in AI and law. Future plans include a reciprocal certificate pathway, enabling students in both schools to complete a shared curriculum. The collaboration also includes the ongoing development of joint degree programs in AI and law designed to serve both law and engineering students. Together, these initiatives reflect a shared commitment to building durable institutional infrastructure at the intersection of law and technology.
Students pursuing the certificate must complete five courses in the general area of AI and law as well as attend four AI-related events, such as workshops, lectures, or pedagogy seminars.
“We are excited to partner with the Law School on this new certificate, which reflects a simple but urgent reality: Every discipline is being reshaped by artificial intelligence,” said Vijay Kumar, Nemirovsky Family Dean of Penn Engineering. “Whether in law, engineering, or beyond, understanding how AI impacts your field, and how to use AI tools thoughtfully and effectively, is essential.”
