2022 Rare Disease Patient's Symposium - Agenda

Dr. Ellen Buck-McFadyen

RN, PhD

Ellen Buck-McFadyen is a faculty member in the nursing department at Trent University. Her background is community and family health nursing, and research interests are in rural health, social capital, and the social determinants of health. Ellen lives in rural Ontario with her husband and 2 children, and is co-founder and director of a registered charity, The Isaac Foundation.

Dr. Nicola Brunetti

MD - Associate Investigator - Telethon Institute for Genetic Medicine, Italy

Nicola Brunetti-Pierri graduated in Medicine and trained in Paediatricsat University of Naples "Federico II'. He then moved to Baylor College of Medicine, Houston, TX, USA for a post-doctoral fellowship and for clinical training in MedicalGeneticand Biochemical Genetics. He became assistant professor in the Department of Molecular and Human Genetics of Baylor College of Medicine and held this role until 2010 when he returned to Italy. As a physician-scientist his research goals are to elucidate the pathogenetic mechanisms and to develop new and more effective therapies for genetic diseases. He has defined the clinical phenotypes and identified the molecular bases of several genetic diseases (lathosterolosis, 1q21.1 deletion and duplication syndromes, FOXG1 duplication syndrome, blepharophimosis intellectual disability syndrome [BIS]). He developed proof-of-concept data supporting the efficacy of small molecule drugs for maple syrup urine disease, pyruvate dehydrogenase deficiency, urea cycle disorders, and Myhre syndrome.

Andrew McFadyen

BA, BEd, MHSc(c) - Director - The Isaac Foundation

Andrew has led numerousadvocacy efforts and helped to shape public policy throughout Canada with respect to availability of treatments for children dying from rare diseases. He has led efforts in Canada to revolutionize h o wthey best implement a healthcare system that works for those with rare disorders, coordinating closely with governments, researchers, cliniciansand industry.

Andrew is also a member of the NYU working group on Compassionate Use and Expanded Access, the working group on Pediatric Gene Therapy and Medical Ethics, an associate fellow on GE2P2 Global Foundation and a member of it's Independant Bioethics Advisory Council.

Alexandra Hall

BAH, BEd, MA - Managing Director of Policy, Patient Support and Industry Liaison - Equal Access for Rare Disorders and The Isaac Foundation

Alix is committed to improving the lives of rare disease patients and their families and removing barriers they may face. She works collaboratively with industry, government, and clinicians to ensure patients have safe, ethical, and expeditious access to the treatments they need. An educator by training, Alix has a background in program management and resource development. She leads patient-centred educational and support programming.

Dr. Roberto Giugliani

MD, PhD, MSc - Federal University of Rio Grande do Sul and Hospital de Clinicas de Porto Algere

Dr. Giugliani is the Professor at the Department of Genetics of the Federal University of Rio Grande do Sul (UFRGS) and Chief of the Medical Genetics Service of Hospital de Clinicas de Porto Alegre, Brazil. Dr. Giugliani earned his MSc and PhD Degrees at the University of Sau Paulo and did his post-doctoral trainings in London, Genova and Paris. He was past President of the Brazilian Society of Clinical Genetics, President of the Latin American Society of Inborn Errors of Metabolism and Neonatal Screening and President of the Latin American Network of Human Genetics (RELAGH). Currently, Dr. Giugliani is Researcher level I A of the Brazilian Council for Development of Science and Technology and Director of the WHO Collaborating Center for the Development of Genetic Services in Latin America. He is also a member of 13 scientific societies including the Brazilian Academy of Sciences. Dr. Giugliani's research interest is the field of inborn errors of metabolism, particularly lysosomal disorders. He has supervised the post-graduate studies of more than 50 MSc/PhD graduates and has more than 220 papers published in international journals. In 2007, he received the FAPERGS Prize Medal from Brazil for his contributions to science.

Kendra Gottsleben

MPS VI Patient - Center for Disabilities at the University of South Dakota Sanford School of Medicine

Kendra Gottsleben is the marketing communication specialist at the Center for Disabilities at the University of South Dakota Sanford School of Medicine in Sioux Falls, South Dakota. She is an author and spokesperson on living a life with a rare disease and disability. Kendra is the founder and executive director of the nonprofit organization, Rare by Design. She is an Augustana University graduate with a double major in Sociology and Psychology. Her career blends the two worlds in which she grew up: medicine and education. Kendra’s memberships on numerous boards, advisory groups and professional societies keeps her actively engaged locally, state-wide and nationally.

She has defined her life by a positive outlook and success in overcoming obstacles. Kendra refuses to be defined by Mucopolysaccharidosis (MPS)—the rare genetic condition she has had since birth. Kendra enjoys a stylish outfit and shoes to match as she strives to make a difference. One of her favorite colors is yellow which embodies her life motto: When life hands you lemons, make the BEST lemonade possible!

Dr. Paul Harmatz

MD, UCSF Children's Hospital Oakland

Paul R. Harmatz, MD, is Associate Director of the Pediatric Clinical Research Center at UCSF Benioff Children's Hospital Oakland, Oakland, California. He completed his Pediatric internship and residency training at Harbor-UCLA Medical Center, Los Angeles, California. Followinga research fellowship in Pediatric Gastroenterology and Nutrition at Massachusetts General Hospital, Boston, Massachusetts, he remained in Boston until 1992 as faculty in Pediatrics at Harvard Medical School.

During the last 15 years, Dr. Harmatz has participated in clinical trials with MPS I, MPS II, IVa, VI and VI and has managedclinical care for MPS patients living in northern California.

Mahoganie Hines

BScN (Hons.), RN, CHPCN(c) - Niagara Region

Mahoganie is an active member of the Palliative Care community. She currently volunteers her time to act as the Registered Nurses’ Association of Ontario’s (RNAO) Palliative Care nursing Interest Group’s President, and previous held the Policy and Political Action ENO for both the Niagara Chapter and Palliative Care Nurse’s Interest Group for the past 5 years. She sits on the inaugural executive board of the Canadian Palliative Care Nursing Association as the incoming President Elect and currently the interim Secretary/Treasurer. She is the Past Chair of the Palliative Care Consultants Network (of Ontario). She currently works as a Registered Nurse, full time, as a PPSMC throughout the Niagara Region.

She has sat on the expert panel of the RNAO’s Best Practice Guideline: A palliative approach to care in the last 12 months (2020). She has spoken at Queen’s Park about the need for equity and accessibility for all to receive excellent Palliative Care through the development of the Compassionate Care Act, in December 2020. She was one of Niagara’s 40 under 40 (2020) recipients and this year’s recipient of the Nursing Now Ontario award for the RN category and the RNAO Leadership award in Political Action. When she is not working, she also has volunteered her time at the St. Catharines CTS site and as a roller derby referee for the Niagara Roller Derby League.

Lauren Honan

BHSc (Hons.) - Dalla Lana School of Public Health at the University of Toronto

Lauren Honan (she/her) is a graduate student enrolled in the Master of Health Sciences in Bioethics program at the Dalla Lana School of Public Health at the University of Toronto. She is interested in research involving the ethics of women’s health, reproductive health, and health equity conducted with an intersectional lens. Lauren previously earned her Honours Bachelor of Health Sciences from Western University, where she enjoyed teaching swimming lessons to children with disabilities through SWAM London. Lauren is currently working on a capstone project that seeks to explore the ethics of implementing HPV testing by self-sampling as an alternative to Pap smears in cervical cancer screening.

Isaac McFadyen

MPS VI Patient - Trent University

Isaac McFadyen is an 18 year old university student at Trent University’s Computer Science co-op program. He was born with MPS VI, a rare genetic disease, and had Enzyme Replacement Therapy for 12 years. In 2019, he and his family moved to Italy for five months to participate in a gene therapy clinical trial. Isaac lives in Ontario, Canada with his three family members, cats, and a dog.

Dr. Michal Inbar-Feigenberg

MD - Hospital for Sick Children

Dr. Michal Inbar-Feigenberg is the section head of Metabolic diseases and the medical director of the Lysosomal Storage Disorders Program in the Division of Clinical and Metabolic Genetics at the Hospital for Sick Children. She completed a General Pediatric Residency Program at the Hadassah Hospital, Hebrew University, Israel, and a CCMG Clinical Biochemical Genetics Fellowship training in 2015. She joined the SickKids team as a staff physician in 2016.

Dr. Inbar-Feigenberg follows a large group of patients diagnosed with mucopolysaccharidoses. Her research is focused on lysosomal disease (LSD) and the impact of new interventions in the field of LSD. In particular, the ability to translate our growing understanding of cellular mechanisms to utilize drugs such as enzyme replacement therapy for the benefit of patients. Dr. Inbar-Feigenberg is the local PI for several multicenter clinical trials and registries related to LSDs.

Dr. John Mitchell

MD, PhD, M.Sc, FRCP - Pediatric Endocrinologist

Dr John Mitchell is an associate professor at McGill University and the division head of pediatric endocrinology at the Montreal Children's Hospital. He completed his medical degree at the University of British Columbia and his pediatric residency and endocrinology fellowship at McGill University.

Dr. Mitchell then traveled to Australia to complete his training at the University of Sydney where he undertook a fellowship in biochemical genetics witha focus on treatment of lysosomal storage disorders. He has worked in the biochemical genetics clinic at the Montreal Children's Hospital since 2003.

His current research interests revolve around measuringclinical efficacy in orphan medications. He is currently involved in a number of clinical studies in lysosomal storage disease examining bone health, non-effort dependent respiratory function and biochemical markers fordetermining clinical outcome.

Dr. Suneeta Monga

MD, FRCPC - University of Toronto and SickKids Hospital

Dr. Suneeta Monga is an Associate Professor of Psychiatry at the University of Toronto, and the Associate Psychiatrist-in-Chief at Toronto’s SickKids Hospital. Her research, educational and clinical activities are in child and youth anxiety disorders and cognitive behavior therapy (CBT), with a special focus on the assessment and treatment of anxiety disorders, including Selective Mutism, in preschool children. Dr. Monga developed the Taming Sneaky Fears program, an evidence-based group CBT treatment program for four- to seven-year-old children with anxiety disorders and their parents and she has been actively involved in the evaluation and refinement of this treatment program. This program has been published as a children’s story and workbook. Dr. Monga is also currently validating several innovative approaches to the assessment of selective mutism and social anxiety disorders in preschoolers.

An important new aspect of Dr. Monga’s work is around selection and measurement of outcomes and understanding what patients and families feel are important treatment outcomes to select and measure. She is currently leading two international projects that will develop, validate, and implement a core outcome set for clinical trials in both youth depression and pediatric anxiety disorders and will include youth and caregivers in all phases. Dr. Monga has published extensively in peer-reviewed, scientific journals and has made numerous presentations on related topics nationally and internationally; as well she has been the recipient of a number of awards for her teaching and mentorship of students and trainees.

Kim Ramsey

Denali Therapeutics

Kim Ramsey is the Director of Advocacy at Denali Therapeutics. Kim focuses on engaging individuals and the advocacy community across the disease areas Denali works across. Prior to working in biotech, Kim worked at the National Multiple Sclerosis Society in the role of industry relations. Kim lives in San Francisco.

Mathias Schmidt

JCR Pharmaceuticals

Mathias Schmidt is a member of the JCR Pharmaceuticals team since 2020 and serves Clinical Development, Business Development, Global Business Strategy and the US subsidiary JCR USA. Mathias and the JCR Team are driven by a strong sense of purpose based on the recognition that all human life has equal value and that the genes we are born with are not a choice of lifestyle. Our greatest respect is for the families and caregivers who give their love and compassion to support their children affected with rare genetic diseases. We try to help them fulfill some of their hopes and dreams by developing new therapies for lysosomal storage diseases that address the most pressing needs on the somatic and central nervous disease burden.

Olivia Vickery

MPS IV Patient, Children’s Educator

Olivia is 23 years old, and lives in England. She has MPS IV, Morquio syndrome. Olivia is currently in her second year working as a primary school teacher.