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Our Team

Emma CiafaloniEmma Ciafaloni, MD, FAAN, FANA
Clinic Director

Dr. Ciafaloni is a Professor of Neurology and Pediatrics who specializes in the diagnosis and treatment of Neuromuscular Diseases in adults and children. She is Co-Director of the MDA Neuromuscular Clinic and Program Director of the ACGME Accredited Neuromuscular Medicine Fellowship Program.

Her current commitments include improving the diagnosis and treatment of adult and pediatric patients with neuromuscular diseases, especially Duchenne Muscular Dystrophy, myasthenia gravis, ALS, limb girdle muscular dystrophies, myotonic dystrophy, FSHD, and spinal muscular atrophy. She has national and international expertise in conducting clinical trials in adult and pediatric neuromuscular diseases including Duchenne Muscular Dystrophy, Myasthenia Gravis, periodic paralyses, nondystrophic myotonias, myotonic dystrophy and FSHD. She has a clinical research interest in the best treatment of patients with Duchenne Muscular Dystrophy, the course and outcome of pregnancy in women with muscular dystrophies, and sleep disorders in neuromuscular diseases.

Rabi TawilRabi Tawil, M.D., FAAN, FANA
Neurologist

Dr. Tawil is co-Director of the MDA Neuromuscular Disease Clinic at the University of Rochester. He is also Director of the Neuromuscular Pathology Laboratory and is responsible for the interpretation of all muscle biopsy samples use for diagnosing muscle diseases. His clinical interests include all acquired and inherited muscle diseases, myasthenia gravis and amyotrophic lateral sclerosis. He has special expertise in facioscapulohumeral muscular dystrophy (FSHD), the non-dystrophic myotonias and the periodic paralyses.

Debra GuntrumDebra Guntrum, FNP
Coordination of Care

Debra Guntrum has worked in the Neuromuscular Disease Center since 2000. She provides care to children and adults with neuromuscular disease and peripheral neuropathy. She has been involved in research in the unit as well. Ms Guntrum received her BNS from SUNY Brockport in 1993 and her MSN from the University of Rochester School of Nursing in 2000.

She is a Clinical Associate in the University of Rochester, School of Nursing and has lectured on neuromuscular disease in many forums. She has worked with nursing students, teaching them about neuromuscular disorders. Debra is a member of the New York State Nurse Practitioner Association, Greater Rochester Chapter.

Karen VoterKaren Voter, M.D.
Pediatric Pulmonologist

Dr. Voter is a Pediatric Pulmonologist whose research interests include the epidemiologic study of cystic fibrosis in collaboration with Dr. Clement Ren. Her other interest is the effect of formula fortified with Docosahexaenoic Acid (DHA) in infant with cystic fibrosis which she is studying in a clinical trial.

David WeberDavid Weber, M.D.
Pediatric Endocrinologist

Dr. Weber is a Pediatric Endocrinologist who has, in addition to general endocrinology and diabetes, a special interest in pediatric bone health. This includes patients with genetic and metabolic bone disease, as well as acquired forms of osteoporosis due to medication exposure or chronic disease. His research is focused on investigating the relationships between body composition, bone health, and chronic disease in the pediatric population.

Carol Wittlieb-WeberCarol Wittlieb-Weber, M.D.
Pediatric Cardiologist

Dr. Wittlieb-Weber is a Pediatric Cardiologist whose research interests include evaluating the outcomes and cost of pediatric cardiomyopathy and heart failure hospitalizations using a national database, and evaluating Doppler flow patterns across the left ventricular outflow tract during exercise, in healthy children and adolescents, using stress echocardiography.

James SandersJames Sanders, M.D.
Pediatric Orthopaedics

Dr. Sanders specializes in pediatric and adolescent orthopaedic disorders and spinal deformity, including scoliosis. His clinical practice includes scoliosis and other spinal deformities, hip, limb and foot abnormalities and neuromuscular disorders.

Christopher CookChristopher Cook, M.D.
Pediatric Orthopaedics

Dr. Cook specializes in pediatric orthopaedics, hip dysplasia in children and young adults, and complex hips. Dr. Cook is certified by the American Board of Orthopaedic Surgery. He is a member of the Pediatric Orthopaedic Society of North America, the Canadian Medical Association, and the Canadian Orthopaedic Association. Dr. Cook has authored several articles on the topics of pediatric hips, the pediatric athlete, and pediatric fractures.

David KoronesDavid Korones, M.D.
Adult and Pediatric Palliative Care

Dr. Korones is a pediatric hematologist/oncologist and palliative care physician, and is the Director of the Pediatric Palliative Care Program. His clinical focus is children with brain tumors and other malignancies, as well as palliative care in children and adults. He is also a physician-consultant for CompassionNet, a community-based pediatric palliative care program

Robert HorowitzRobert Horowitz, M.D.
Adult and Pediatric Palliative Care

Rob Horowitz, MD, is board-certified in Internal Medicine, Pediatrics, and Hospice and Palliative Medicine. He is a graduate of the University of Rochester School of Medicine and Dentistry, where he also pursued his residency in the Internal Medicine and Pediatrics Program. He completed an Adult Cystic Fibrosis mentorship at UNC/Chapel Hill, and he had additional training in Palliative Care at the University of Rochester Medical Center (URMC). At URMC he is a pediatric and adult Palliative Care consultant, and he has been the Medical Director of the Adult Cystic Fibrosis Program since it was established in 1999.

Katy EichingerKaty Eichinger, PhD, DPT
Duchenne Clinic Physical Therapist and Clinical Evaluator for Clinical Trials

Katy Eichinger, Ph.D, DPT, is involved in the clinical care of adult and pediatric patients with neuromuscular diseases. Additionally, she is part of the neuromuscular research team and is involved in natural history studies and clinical trials for patients with Duchenne Muscular Dystrophy, Charcot-Marie-Tooth disease, myotonic dystrophy, and facioscapulohumeral dystrophy. Her interests are in outcome measures, health and wellness, and balance. She has been involved with clinical evaluator training and assisted in preparing the manual for the pediatric assessment for the CMT natural history study. Her interests are in outcome measures, health and wellness, and balance.

Alicia GotcsikAlicia Gotcsik, CO, CPed
Staff Orthotist, University of Rochester: Orthotics and Prosthetics Department

Alicia has been in the O&P career field for nearly 24 years, gaining her initial exposure and training in Orthotics in the United States Air Force. She received her Pedorthic education at the Medical College of Wisconsin in 2000. She is both a Certified Orthotist and Pedorthist by ABC (American Board for Certification in Orthotics, Prosthetics and Pedorthics). Currently, she is part of a team approach to patient care by working with a group of foot/ankle orthopedic surgeons, attending their weekly clinics at the University of Rochester (NY), where she employed as a Staff Orthotist. Also, she works with the CMT and Inherited Neuropathy Clinic at the University of Rochester to help ensure seamless, “one stop-shopping” in orthotic care, in order to be more considerate of patients’ time and work disruptions. She is involved in the Rochester community by helping to organize and staff the Special Olympics Games’ Fit Feet Clinic and has volunteered her time at a local homeless shelter Foot Care Clinic. She has assisted in research and development for Donjoy Orthopedics, Ithaca College Physical Therapy Program and Gait Lab.

Julie LanningJulie Lanning
Clinical Technologist

Julie Lanning has worked in the Neuromuscular Disease Center since 2015. She received her bachelor’s in Health Science Studies from Quinnipiac University in 2012. She performs nerve conductions studies on adults and children with neuromuscular disease.

Kelly Q. McMahonKelly Q. McMahon, M.S.
Genetic Counselor

Kelly graduated from University of Rochester in 2009 with a Bachelor of Science in Molecular Genetics. In 2011, she graduated from University of North Carolina at Greensboro with a Master of Science in genetic counseling. Following graduation, Kelly worked as a prenatal genetic counselor for a private maternal fetal medicine practice in Fort Myers, FL. She is currently a full-time genetic counselor at the University of Rochester Medical Center in the Department of Neurology, Division of Child Neurology and the Department of Medicine, Division of Genetics.

 

Patty Smith
Research Coordinator for Clinical Trials

 

Rachel Santillo, MS, MHC, CASAC
MDA Representative

Rachel is the Family Support and Clinical Care Coordinator with the Muscular Dystrophy Association for the Rochester and Buffalo regions.  She earned her Master’s degree in Mental Health Counseling from St. John Fisher College and has spent the last five years as a counselor in an outpatient clinic offering resources to individuals in need.  In her role, Ms. Santillo is present at clinic each week to help connect individuals and families to the resources provided by the MDA including the loan and repair of durable medical equipment, support services, socialization opportunities and MDA Summer Camp, a free week-long residential camp for children ages 6-17 with muscular dystrophy. The MDA also provides on-going financial support for the University of Rochester’s MDA Neuromuscular Clinic’s.

                                 RSantillo@mdausa.org
                                 Health Care Services Coordinator, Western New York
                                 Muscular Dystrophy Association
                                 1425 Jefferson Rd, Second Floor
                                 Rochester, NY 14623
                                 (585) 424-6560