Travel-Related Diagnoses Among U.S. Nonmigrant Travelers...
Iowa Researchers Study Role Of Genes In Eye Disease That Leads To Vision Loss
A research team at the University of Iowa has identified the role of key genes and ultraviolet light in a common eye disease.
Aliasger SalemThe disease is called Fuchs endothelial corneal dystrophy (FECD). It causes the loss of corneal endothelial cells, which, left unchecked, leads to vision loss. FECD affects more than 6 million Americans, the authors report. The only treatment to date is surgery.
The researchers explain in the study the process that causes the loss of corneal endothelial cells. In particular, they focused on better understanding and evaluating the role of ferroptosis, a newly identified form of cellular death driven largely by iron concentrations.
The researchers studied samples of corneal endothelial tissue with FECD from 36 patients and compared them with samples from eight patients with healthy corneal endothelial tissue. They found in the FECD samples the presence of certain genes associated with the disease and followed the path by which these genes led to ferroptosis.
They also found through experiments that increases in ultraviolet light created a toxic accumulation of ferrous iron within the corneal cells in the diseased samples.
The researchers then tested different pharmacological compounds known to protect against ferroptosis and other symptoms involved in FECD. They found one drug compound, ubiquinol, helped to prevent corneal cell death.
That means there may be a new way to slow down the progress of FECD or even treat it altogether.
"There is no therapy for FECD despite how common it is, other than surgery," says Aliasger Salem, the Lyle and Sharon Bighley Endowed Chair and Professor of Pharmaceutical Sciences and Experimental Therapeutics in the College of Pharmacy and the study's co-corresponding author. "Finding a new way to treat this condition would be a paradigm shift for patients."
Mark Greiner, professor of Ophthalmology and Visual Sciences in the Carver College of Medicine and a leading FECD surgeon, is a co-corresponding author.
The study is titled "TCF4 trinucleotide repeat expansions and UV irradiation increase susceptibility to ferroptosis in Fuchs endothelial corneal dystrophy." It was published in the journal Redox Biology.
Study co-authors from Iowa include Sanjib Saha, Jessica Skeie, Christopher Sales, Pornpoj Phruttiwanichakun, Apurva Dusane, Matthew Field, and Chandler Pendleton.
Other co-authors include Gregory Schmidt, Tim Eggleston, and Hanna Shevalye, from the Iowa Lions Eye Bank; Tommy A. Rinkoski, Michael Fautsch, and Keith Baratz from the Mayo Clinic; and Madhuparna Roy and Albert Jun from Johns Hopkins University.
The National Institutes of Health, the Iowa Lions Eye Bank, the UIHC Cornea Research Fund, the M.D. Wagoner & M.A. Greiner Cornea Excellence Fund, the Lyle and Sharon Bighley Chair in Pharmaceutical Sciences, Robert and Joell Brightfelt, and Lloyd and Betty Schermer funded the research.
Applications Now Open For Muscular Dystrophy Association's College Scholarship Program For Students With Neuromuscular Conditions
New York, Jan. 13, 2025 (GLOBE NEWSWIRE) -- The Muscular Dystrophy Association (MDA) is proud to announce that applications are now open for the second year of the MDA College Scholarship Program. Students living with neuromuscular diseases who are pursuing or plan to pursue undergraduate education at an accredited college or university are invited to apply at MDA.Org/Scholarship. The deadline for applications is March 13, 2025.
MDA will award merit-based scholarships of up to $5,000 per student. Awards go towards support for students who demonstrate leadership potential and a commitment to community engagement. Students who have received an MDA College Scholarship previously are also eligible to apply for support. These scholarships are designed to provide financial support and empower young adults to develop the critical skills necessary for future professional success.
Recipients will be notified in June, with public announcements made in mid-August. The MDA College Scholarship program continues to highlight the organization's dedication to advancing the futures of students living with neuromuscular disease, creating access to education, and promoting long-term career growth.
A Community of Support and Empowerment
Over time, the MDA College Scholarship Program aims to cultivate a network of peers and mentors who share the experience of living with neuromuscular disease. Beyond financial assistance, the program will provide additional supplemental support based on feedback and insights gathered from the community. Students will also receive access to a dynamic community where they can exchange resources, advice, and experiences.
"We're thrilled to enter the second year of this program, which represents more than just financial support for students — it's an opportunity to connect, grow, and lead," said Alicia Dobosz, Executive Vice President of Community Engagement, Muscular Dystrophy Association. "Connecting with our first year of scholars and hearing how impactful this program has been and the remarkable ways in which they are involved on their campus, navigating complex environments, and advocating for greater access and accessibility is incredibly motivating for us. We are seeing firsthand how programs like this make a difference. This scholarship program is integral to Muscular Dystrophy Association's broader efforts to provide essential resources for young adults. With the continued breakthroughs in research and treatment, it's vital we ensure these students have the tools and support to reach their academic goals, build leadership skills, and eventually thrive in their careers."
Empowering the Next Generation of Leaders
In addition to providing financial assistance, MDA's College Scholarship recipients are recognized for their leadership potential and community involvement. The program fosters a sense of camaraderie, where students can inspire and support one another, regardless of their geographic location. Through this initiative, MDA is building a bridge to future opportunities for students living with neuromuscular diseases.
"I've always found strength while living with a neuromuscular condition because I've always had a powerful ally in my corner, and that has been my extended 'family' and support network at the Muscular Dystrophy Association," said Jonathan Lengel, Fordham University, Digital Technologies & Emerging Media and Music. "This scholarship not only helped me pay for school, but it also connected me with other students who are navigating similar challenges. I feel like I'm part of something bigger — a community that believes in the power of education and the impact we can have as leaders."
MDA College Scholarship recipient in 2024, Grace LoPiccolo, Saint Louis University, Bioethics, has dreams of working in the disability law field, and is already making waves in the field. "The MDA College Scholarship allowed me to focus more on my education and less on the financial burden of school. It's an incredible feeling to know that I'm supported by such a dedicated community. This program, and the larger community I'm connected to through the Muscular Dystrophy Association, has given me even more confidence to push myself further in my studies and my career," she said.
A Partnership for Progress
The MDA College Scholarship program is made possible through the generosity of corporate partners, including Certinia and Numotion Foundation.
"At Certinia, we're proud to support MDA's efforts to help students with neuromuscular diseases pursue their dreams of higher education," said DJ Paoni, CEO of Certinia. "Providing educational opportunities for these students is a critical step in empowering them to realize their full potential. We believe in the importance of creating access for people living with disabilities and MDA's scholarship program plays a vital role in fostering a more inclusive future for all."
"The Numotion Foundation is proud to support the MDA College Scholarship Program," said Mike Swinford, President of the Numotion Foundation. "These scholarships provide critical educational opportunities that will help individuals living with neuromuscular disease develop the skills and knowledge necessary to thrive in their careers and communities. We commend each student who applies, as well as the Muscular Dystrophy Association for their dedication to creating this impactful program."
Press inquiries, contact press@mdausa.Org.
About Muscular Dystrophy AssociationMuscular Dystrophy Association (MDA) is the #1 voluntary health organization in the United States for people living with muscular dystrophy, ALS, and over 300 other neuromuscular conditions. For 75 years, MDA has led the way in accelerating research, advancing care, and advocating support and inclusion of families living with neuromuscular disease. MDA's mission is to empower the people we serve to live longer, more independent lives. To learn more visit MDA.Org and follow MDA on Instagram, Facebook, X, Threads, TikTok, LinkedIn, and YouTube.
About Muscular Dystrophy Association's 75th AnniversaryIn 2025, the Muscular Dystrophy Association proudly marks 75 years legacy, impact and momentum in the fight against neuromuscular diseases. Since our founding, MDA has been at the forefront of research breakthroughs, providing access to comprehensive care, and championing the rights of people living with muscular dystrophy, ALS, and over 300 other neuromuscular diseases. This milestone has been made possible by generations of dedicated support from people living with neuromuscular disease, their families, researchers, clinicians, volunteers, and donors—who boldly drive our mission forward. As we look ahead, we remain committed to honoring this legacy, building on the impact we've made together, and continuing our momentum toward transformative progress for people living with neuromuscular disorders.
Sarepta Previews Q4 Findings, Touts Elevidys Earnings Beat
Sarepta Therapeutics on Monday provided an early peek at its fourth-quarter and full-year 2024 performances, reporting largely positive results that reflect a successful launch for its Duchenne muscular dystrophy gene therapy Elevidys.
In the fourth quarter, Elevidys brought in a net product revenue of $384.2 million, representing a more than 110% quarter-over-quarter increase. That figure easily beat the consensus earnings estimate of $334 million and the company's own guidance, which projected product sales of approximately $320 million, according to an investor note from Jefferies.
The biotech provided this earnings preview at the 2025 J.P. Morgan Healthcare Conference in San Francisco.
BMO Capital Markets analysts were bullish about Sarepta's results, asserting in a note that Elevidys' Q4 growth points to the biotech's "world-class" expertise in Duchenne muscular dystrophy (DMD).
"Importantly, despite generating $1B+ in Elevidys sales since launch, [management] estimates <5% penetration in Elevidys-eligible patients (>600 dosed to date), pointing to $20B+ Elevidys opportunity in prevalent patients," the BMO analysts wrote.
With the strong Q4 performance of Elevidys, Sarepta leadership on Monday reiterated its 2025 guidance for product sales. The biotech expects to book $2.9 to $3.1 billion in sales this year, which is broadly in line with the consensus projection. BMO expects Elevidys to be a "key driver" of the Sarepta "story" in 2025, with a projected sales of around $2 billion this year, a potential EU approval and an upcoming readout that could "further establish efficacy/safety profile."
As for its pipeline, Sarepta is anticipating a Phase III readout for Elevidys in the first half of 2025 as a treatment of limb-girdle muscular dystrophy (LGMD). A regulatory filing in this indication is expected by the end of the year, according to a presentation on Monday. Sarepta will also run Phase I/II studies this year for two new LGMD candidates.
Sarepta at JPM25 also touted the benefits of its recent potential $10 billion deal with Arrowhead Pharmaceuticals, which was announced in November 2024 and could yield at least seven RNA interference assets for facioscapulohumeral muscular dystrophy (FSHD), myotonic dystrophy type 1 (DM1), idiopathic pulmonary fibrosis and spinocerebellar ataxia 2. The biotech is expecting preliminary early-stage FSHD and DM1 data by the end of 2025.
"We see multiple ways to create value as well within each program," the Jefferies analysts wrote of these Arrowhead programs, which have demonstrated best-in-class potential for DM1 and FSHD. "We see clear synergies for SRPT, who is an expert in developing rare disease drugs, finding biomarkers, and securing accelerated approvals."
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