Our Team
Emma 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.
Brianna Brun, MD
Neuromuscular Division Of Neurology
Dr. Brun completed her undergraduate studies at Iowa State University. She then obtained her MD at the University of Iowa Carver College of Medicine during which time she completed the Iowa Wellstone Center Muscular Dystrophy Medical Student Fellowship. She completed residency in child neurology at Nationwide Children's Hospital and fellowship in neuromuscular medicine at University of Rochester Medical Center.
Michael Collins, MD
Pediatric Cardiology
Dr. Collins cares for patients with congenital and acquired forms of heart disease in both outpatient and inpatient settings. Clinical interests include single ventricle physiology and interstage mortality, aortopathy, and hypertrophic cardiomyopathy. He recognizes the importance of counseling and communication to optimize clinical outcomes and incorporate family and patient values.
Robert Horowitz, MD
Adult and Pediatric Palliative Care
Dr. Rob Horowitz is the Georgia and Thomas Gosnell Distinguished Professor in Palliative Care. Board certified in Internal Medicine, Pediatrics and Hospice & Palliative Care Medicine, Dr. Horowitz is a physician and educator. He was Chief of the Palliative Care Division at Strong Memorial Hospital from 2015 to 2023. Dr. Horowitz also founded and served as Medical Director of Rochester's Adult Cystic Fibrosis Program from 1999 until 2015, and he worked for 14 years as a rural emergency physician.
Bo Hoon Lee, MD
Neuromuscular Division Of Neurology
Dr. Lee completed her undergraduate degree at Washington University in St. Louis. She then came to Rochester to complete medical school at the University of Rochester School of Medicine and Dentistry, where she also completed her pediatric and child neurology residency training. She then completed a fellowship in Neurogenetics. She is part of the Neurogenetics Consultation Team and Pediatric Neuromuscular Clinic.In her clinical practice, she sees children with a wide range of neurologic conditions and is particularly interested in disorders with a genetic basis. She also sees children with neuromuscular disorders like spinal muscular atrophy (SMA), Duchenne and Becker Muscular Dystophy (DMD / BMD) and works in the neuromuscular division to provide treatment and care for these children. She directs the follow-up clinic for infants diagnosed with Pompe disease via newborn screening.
Samuel Mackenzie, MD
Neuromuscular Division Of Neurology
Dr. Mackenzie completed his undergraduate studies at Cornell University before earning a Master's degree in exercise science at the University of Delaware and his MD and PhD degrees at SUNY Upstate Medical University. He completed residency in child neurology at the University of Michigan and fellowship in neuromuscular medicine at The Ohio State University and Nationwide Children's Hospital.
Daniel Sheehan, PhD, MD
Pediatric Pulmonary
Dr. Sheehan earned a BA in physics from the University of Rochester and then earned a PhD in Physiology from the University at Buffalo, State University of New York. He pursued his MD degree at Johns Hopkins University and then completed his Pediatrics residency and Pediatric Pulmonology fellowship at the University of Pittsburgh. Since then, three of his passions have included: ensuring the highest quality of family-centered healthcare for all children with lung disease; addressing inequities and gaps in care; and educating trainees and faculty.
Paul Vermilion, MD
Palliative Care
Dr. Paul Vermilion grew up in Rochester, and after leaving and going to Boston for his undergraduate education, he returned to Rochester for all of his medical training. He completed his residency in Internal Medicine-Pediatrics, followed by a fellowship in Hospice and Palliative Medicine. After fellowship he stayed on as faculty, continuing to see adults with general palliative care needs and developing an embedded pediatric neuropalliative care clinic.
Karen Voter, MD
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.
Jordan Bontrager, MS, CGC
Certified Genetics Counselor
Jordan Bontrager is a certified genetic counselor, and joined the Neuromuscular Disease Center in 2020. She graduated with her Masters of Science degree in medical genetics from the University of Wisconsin-Madison in 2016. Her background includes clinical and laboratory genetic counseling focused on neurologic and metabolic disease. Currently she provides genetic counseling for adults and children evaluated in the MDA, ALS and inherited neuropathy clinics.
Katy Eichinger, PhD, DPT
Duchenne Clinic Physical Therapist and Clinical Evaluator for Clinical Trials
Katy Eichinger, PhD, 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.
Heather Romeiser, NP
Neuromuscular Division Of Neurology
Victoria Dean, SW
Pediatrics/OB/Outreach
Nicole Koopman, PT
Neuromuscular Division Of Neurology
Joan Mountain, RN
Neuromuscular Division Of Neurology
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 Clinics.
Contact Information:
Western New York Muscular Dystrophy Association
Health Care Services Coordinator
1425 Jefferson Rd, Second Floor
Rochester, NY 14623
RSantillo@mdausa.org
(585) 424-6560