Expert Q&A: The Duchenne Muscular Dystrophy Program at Mount Sinai

A portrait of Carol C. Gregorio, PhD

Carol C. Gregorio, PhD

The Duchenne Muscular Dystrophy Program at Mount Sinai provides comprehensive, family-centered care for children and adolescents, combining the latest research with individualized treatment plans.

In this Q&A, Carol C. Gregorio, PhD, Director of the Duchenne Muscular Dystrophy Program at Mount Sinai, explains how this unique program brings together expert clinicians across multiple pediatric specialties to deliver coordinated, individualized care plans tailored to each child’s medical and developmental needs.

Dr. Gregorio also serves as Principal Investigator, Senior Associate Dean for Basic Science, and Director of the Center for Cardiac Muscle Biology at the Icahn School of Medicine at Mount Sinai, where she works closely with clinical leadership to integrate cutting-edge research with comprehensive patient care.

How does this program help families?

Families benefit from a multidisciplinary care model that integrates pediatric neurology, cardiology, pulmonology, orthopedic surgery, physical and occupational therapy, nutrition, and physical medicine and rehabilitation. In close collaboration with researchers at the Icahn School of Medicine, the care team is able to incorporate evolving evidence and connect families with clinical research opportunities aimed at improving diagnosis, treatment, and long-term outcomes. This integrated approach supports thoughtful, evidence-informed care while prioritizing safety, clinical appropriateness, and quality of life throughout childhood and adolescence.

What makes the program unique?

A defining feature of the Mount Sinai Duchenne Muscular Dystrophy Program is its close collaboration between its clinical care teams, and translational researchers at the Icahn School of Medicine. This partnership allows families access to the latest advances in Duchenne research, including innovative diagnostics and opportunities to participate in clinical trials. Equally important is how care is delivered. Families are supported by a dedicated clinical program manager who coordinates appointments, streamlines multidisciplinary visits, and ensures continuity of care between clinic visits. This model reduces the burden on families and allows clinicians to work together efficiently and proactively.

What aspects of Duchenne muscular dystrophy are addressed through the program?

The Duchenne Muscular Dystrophy Program at Mount Sinai focuses on the comprehensive management of the multisystem effects of Duchenne muscular dystrophy. Care is centered on addressing progressive muscle weakness, delayed motor milestones, and contractures, while proactively monitoring disease progression over time.

In addition, the program provides ongoing surveillance and management of cardiac and respiratory involvement, including cardiomyopathy, declining pulmonary function, sleep-disordered breathing, and related complications. Through coordinated, longitudinal care, the team works to anticipate challenges, intervene early, and support function, comfort, and quality of life. The program also supports patients through adolescence and facilitates a structured transition to adult clinical services at Mount Sinai, ensuring continuity of care as medical needs evolve.

Why should physicians refer patients to the Duchenne Muscular Dystrophy Program at Mount Sinai?

Referring physicians can be confident that patients will receive comprehensive, coordinated care from a multidisciplinary team experienced in managing the complexities of Duchenne muscular dystrophy. Our program offers streamlined access to pediatric subspecialists, evidence-based management, and ongoing communication with referring providers. This model supports early intervention, longitudinal follow-up and smooth transitions across stages of care, all within the Mount Sinai Health System.

To make a referral, call 212-824-9015 or email MtSinaiDMD@mssm.edu.
Program Contact and Care Coordination: Jennifer E. Gomez, MSN, CPNP-PC, Program Manager

Two Mount Sinai Brooklyn Nurses Are Grateful for Their Start as Patient Care Associates

From left: Beth Oliver, DNP, RN, FAAN; Melissa James, BSN; Claudia Garcenot, MSN, MHA, RN; and Nicole Jones, BSN

Melissa James, RN, began her career in health care as a patient care associate (PCA) at Mount Sinai Brooklyn in 2015, but nursing school was always in her plan.  It was also in the family, as Melissa’s mother began her own health care career as a certified nursing assistant, eventually becoming a licensed practical nurse.

In fact, Melissa’s mother encouraged her to become a PCA in order for her to test the waters and make sure nursing was the right path.  Melissa quickly decided it was, and began saving for her nursing education. She attended Long Island University part-time during the day for five years, while continuing to work at Mount Sinai Brooklyn, at times covering both evening and morning shifts, in addition to scribing for a local medical office.

”It was challenging,“ she says, “but doable. My family and work colleagues were tremendously supportive.  And after 16-hour days while I was a student, my current 12-hour shift is a breeze.”

Melissa says her experience as a PCA was invaluable training for a career in nursing.

“It was like having clinical rotations before even starting nursing school. As a PCA, I spent a lot of time at the bedside, which really helped me develop strong patient communication skills, something that might have taken longer had I gone straight into nursing,” she says. “While I’m still very much involved with patients as an RN, the nature of my role has changed. There are certain hands-on tasks I no longer perform as often, but I now have the opportunity to apply critical thinking and collaborate with fellow nurses and the medical team to develop treatment plans.”

Melissa is on the same unit, 2 East, as she was as a PCA. “My unit is special. If you stick your head out the door asking for assistance, people come running,” she says. “We are all committed to helping one another. 2 East works as a team! And, we are a fun, friendly group.”

Nicole Jones, BSN, began her health care journey as a patient care associate at Mount Sinai Brooklyn in 2020. Like Melissa, she always knew she wanted to become a nurse. And she previously majored in Science as an undergraduate. In 2023, she took the next step by enrolling in the accelerated BSN program at the Mount Sinai Phillips School of Nursing.

“Balancing part-time work with the intensity of a 15-month program was challenging, but the support at PSON made all the difference,” she says. “The faculty truly wanted us to succeed—tutoring was accessible, and the close-knit environment made it easy to build strong relationships with both faculty and classmates.”

After graduating in 2024, Nicole started her nursing career in February 2025 at Mount Sinai Brooklyn’s Stepdown Progressive Care Unit, where she cares for patients transitioning from surgery or the Intensive Care Unit (ICU).

“I absolutely love being a nurse and having the autonomy to make decisions in patient care,” she says. “Working as a PCA really shaped me—it not only taught me to prioritize safety and strengthened my appreciation for bedside care, but also prepared me for the demands of nursing school by enhancing my clinical awareness and time-management skills.”

Nicole, like Melissa, is focused on the present but remains open to what the future holds. “I’m considering the ICU as a potential next step to grow clinically, but I’m also interested in pursuing wound care—both areas really speak to different parts of my nursing passion,” she says. “It feels good to be in a place where there are so many meaningful directions to explore.”

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Alert to Signs of a Stroke, Mount Sinai Queens Nurse Helps Save a Colleague

From left: Vanessa Rose Jayme, MS, RN; Daniella Stephen, MPH, MSN, RN; Anne Pisciotta, RN; Asha Cox, RN; Connie Vargas, Director of Nursing Systems; Riskarlyn Figuereo; and Sharon Kurian, MSN, RN, CMSRN, Assistant nurse manager, 3 East

Asha Cox, RN, Nurse Manager on 4 East at Mount Sinai Queens, started her day recently by checking on a nurse in her unit who had experienced an injury earlier in the week. Calling the nurse at home, Asha immediately detected that something was wrong. She said to her colleague, “Your voice has changed, are you okay?”  Within moments, Asha knew this nurse was not well.  “It was also clear she was alone in her home.  I told her to call 911, but she could not.  I asked for her address, but it was hard to understand her, so the next step was to look through the Mount Sinai database to find where she lived and how to reach her emergency contact.  I also told her to unlock the door for emergency services, if she could do so safely. And to lie on the floor to avoid falling.“

Thankfully, colleagues were in the office, and it became a team effort. Daniella Stephen, MPH, MSN, RN, Senior Director, was by Asha’s side, offering guidance. Riskarlyn Figuereo, Administrative Office Coordinator, searched through the database for the emergency contact information and home address. Anne Pisciotta, Clinical Nurse Manager, 3 West, was a calming presence with her frequent nods of support.  And Vanessa Rose Jayme, MS, RN, Assistant Nurse Manager, came just in time to offer her telephone for multitasking while Asha spoke to her colleague and the 911 operator simultaneously. “I was feeling in control, but when 911 called back to say they could not find the entrance to her building, admittedly I had to work a little harder to calm my nerves,” Asha says.

Safiya Alozie, RN, Nurse Manager, 3 East, was in the office as well. “As we listened, the voice over the phone gradually became more slurred and disoriented,” Safiya says. “Asha remained calm, soothing her colleague and reassuring her that help was on the way. We heard the cries and the fear through the phone, and the anxiety among us all was palpable. The 15-minute phone call seemed liked an hour. But Asha never showed any fear, reminding this nurse that she would not hang up until the ambulance arrived. When we all heard the medical team burst through the door, there was a sense of relief for everyone. We could finally exhale!”

Asha, who has worked as a nurse at the Mount Sinai Health System for 18 years, says her experience was key in helping her navigate this “somewhat surreal” situation. “As nurses, we learn how to pay attention to seemingly little things, the details, an unusual symptom,” Asha explains. “In this case, I picked up on her voice, and the longer she was on the phone, I recognized the signs of stroke.”  She adds, “You cannot be sure how you will respond in times like these, but I am a person of faith. I am also am so thankful that my colleagues were close by. I felt supported.”

Jill Goldstein, MA, MS, RN, Vice President, Patient Services, and Deputy Chief Nurse Officer, Mount Sinai Queens, says: “Asha exceeded the definition of hero this day. She followed her intuition and her heart, which led to the successful 911 intervention. This is emblematic of Asha’s leadership style, authentic, transformational and dedicated to her staff and colleagues. We are blessed to work with Asha.”

The 23rd Annual MS Center Celebration to Be Held March 6

Get ready for an unforgettable evening of magic, purpose, and impact. The 23rd Annual MS Center Celebration is set to once again dazzle guests on Thursday, March 6, at the Metropolitan Club in Manhattan. Providing key support for The Corinne Goldsmith Dickinson Center for Multiple Sclerosis at Mount Sinai, the gala promises a night of joy, inspiration, and entertainment.

This year’s co-chairs are Ilana Katz Sand, MD, Associate Director of the Center; Stephen Krieger, MD, Professor of Neurology at the Icahn School of Medicine at Mount Sinai; and Anthony Rosa, Founder and CEO of Runway 7 Fashion, Advisory Board Member of the Center, and designer of the MS-themed lab coats worn by members of the Center at New York Fashion Week.

The evening will feature a special performance by David Gerard, a popular mentalist and magician, who in past years has left the audience, including the Center’s seasoned scientists, in awe.

But the true magic lies in the vital funds raised to advance the Center’s mission: transforming lives of those affected by multiple sclerosis through comprehensive and innovative patient care, groundbreaking research, and renowned education and training.

With more than 6,000 patients relying on the Center, the need for resources has never been greater. Thanks to the generosity of patients, families, and friends of the Center, proceeds from past galas have helped launch such life-changing programs as the C. Olsten Wellness Program, founded in 2020 by event co-chair Dr. Katz Sand, who also serves as the program’s co-director. This program provides a holistic, multidisciplinary approach to help participants optimize quality of life and improve their long-term prognosis. Funds raised are also critical to enabling innovative research and training for the next generation of MS care leaders.

Join us in strengthening our Center’s mission to create a brighter future for those we serve living with MS.

 Learn more about the 23rd Annual MS Center Celebration and reserve your spot.

Two Physicians at The Corinne Goldsmith Dickinson Center for Multiple Sclerosis Recognized for Helping Patients

Two physicians at The Corinne Goldsmith Dickinson Center for Multiple Sclerosis, Fred Lublin, MD, Director of the MS Center and Saunders Family Professor of Neurology at the Icahn School of Medicine at Mount Sinai, and Stephen Krieger, MD, Professor of Neurology, are among the physicians whom the Mount Sinai Office of Patient Experience recognized with the 2024 Cullman Family Award for Excellence in Physician Communication.

“The Cullman Family Award has special meaning to me as a recognition of the dedication and efforts that all of us at the Center strive to provide for the patients we care for,” said Dr. Lublin. “Receiving this award is a tribute to our co-founder and guiding spirit, the late Clifford Goldsmith, who when we started the Center directed that we were to provide outstanding, state-of-the-art, comprehensive care for patients with MS, giving them as much time and attention as needed to meet their needs.”

For Dr. Krieger, the award is a clear affirmation of the patient experience.

“What moves me the most about the Cullman Family Award is that it comes directly from how my patients have felt about their care. This award is not decided by a committee or any one person, but rather by our patients themselves. I think that effective communication, education, and compassion are the most important aspects of the role that I hope I play in the lives of the people I take care of. So, to know that I have been able to be a small force of good for them as they navigate their neurological condition means a great deal to me.”

Since 2016, this prestigious award has honored Mount Sinai providers who demonstrate exceptional communication in clinical practice. Recipients of the award were ranked in the top five percent, out of more than 117,000 providers nationwide, as measured by two communication metric questions on the Press Ganey ambulatory patient experience survey during the previous calendar year.

A total of 89 outstanding Mount Sinai providers were honored, more than ever before. Erica Rubinstein, MS, LCSW, CPXP, Vice President of Service Excellence and Patient Experience, hosted a ceremony featuring remarks by Brendan Carr, MD, MA, MS, CEO, Mount Sinai Health System, alongside other hospital leaders. Carolyn Sicher, MD, and Georgina Cullman, PhD, board members of Mount Sinai Health System and members of the Cullman family, which founded the award, also spoke at the special ceremony on Wednesday, October 30, in the Mount Sinai Hospital Stern Auditorium.

Fifty of this year’s honorees were prior-year recipients; nine providers have received the award five or more times, including Dr. Krieger. Dr. Lublin, Ilana Katz Sand, MD, and Michelle Fabian, MD, are also multiple-time awardees. Sam Horng, MD, and former Center provider Aliza Ben-Zacharia, DNP, have been honored as well.