Speakers

Dr.  Anagnostou, is a child neurologist and senior clinician scientist at Holland Bloorview Kids Rehabilitation Hospital. Dr. Anagnostou is also the Assistant Director/Associate Professor of Holland Bloorview’s Research Institute; co-leading the Autism Research Centre (ARC). Dr. Anagnostou holds a Canada Research Chair in translational therapeutics in Autism Spectrum Disorder (ASD) and the Dr. Stuart D. Sims Chair in Autism at Holland Bloorview. Dr. Anagnostou’s research focuses on translating genomic and systems biology findings into novel treatments for ASD. 

Dr. Bérubé is a Professor in the Departments of Paediatrics, Anatomy and Cell Biology, and Oncology at Western University and a Scientist at the Children’s Health Research Institute in London, Canada. Her research intersects neuroscience and epigenetics with a focus on the role of chromatin regulators in learning and memory and in neurodevelopmental disorders. Using mouse genetics, her group is investigating the function of the ATRX chromatin remodeling protein in brain development, and in specific cell types of the central nervous system.  The methods used include the culture of primary cells, genome-wide sequencing, bioinformatics, and behavioral testing to better understand the effects of ATRX deficiency in the brain.

Terry Boyd has years of experience volunteering and advocating in the field of developmental disabilities.  

She’s held numerous Board and Committee positions with Community Living, the Ministry of Community & Social Services (MCSS) and the Ministry of Health (MOH). Many will know Terry as the former president of the Ontario Rett Syndrome Association. Terry and her husband, Dean have three children. The youngest, Kayleigh, is 32 years old and has Rett syndrome. Kayleigh lives at home and is supported by her parents and peer staffing who are funded by MOH Home Care Program and MCSS Passport Program. Kayleigh lives a full life volunteering, enjoying new experiences and directing her daily living. 

Erin Brandon is the Paediatric Nurse Practitioner at the Holland Bloorview Kids Rehabilitation Hospital Complex Care Neuromotor & Rett Syndrome Clinics. She has expertise and professional interest in the medical management of children with medical complexity. 

Patrick Brune, is a Speech Language Pathologist and has provided assessment, therapy, and consultation services for children and adults with severe speech and language disabilities for over 30 years. He worked as a clinical supervisor for Queens College, in New York, and as a related service provider for the NYC Department of Education. Patrick is a member of the Tobii Dynavox Learning Services team, providing implementation support and workshops.

Dr.Carter specializes in the genetic evaluation of individuals with neurodevelopmental disorders. She is the Medical Director of CHEO’s Rett Syndrome Clinic and also co-directs CHEO’s Angelman Syndrome Clinic.  In 2011, she joined the faculty at the University of Toronto as Assistant Professor of Paediatrics and staff Clinical Geneticist at the Hospital for Sick Children. In May 2016, she became staff Clinical Geneticist at the Regional Genetics Program at the Children’s Hospital of Eastern Ontario (CHEO), where she is currently an Associate Professor of Paediatrics with the University of Ottawa.

Dr.Cassidy is currently an Assistant Professor in the Departments of PM&R and Paediatrics at Western University. Dr. Cassidy’s main clinical focus is in the Transitional and Lifelong Care (TLC) Program, housed primarily at Parkwood Institute, St. Joseph’s Health Care London (St. Joseph’s).  The program provides long term rehabilitative care to people with chronic and sometimes complex conditions of childhood onset, including Cerebral Palsy, Spina Bifida, Rett syndrome and others.   

Jane Cassano has been a social worker for the past 20 years at McMaster Children’s Hospital. She works with children and youth who are facing cancer as well as their families. She is passionate about helping young people through the cancer journey and she is dedicated to improving mental health services for cancer patients. Jane also has a private counselling practice in Hamilton and she is a Mindful Self-Compassion (MSC) trained teacher. Jane runs groups at a yoga studio for individuals facing various life challenges. During her free time, Jane loves traveling, journaling, hiking, meditation and reading. 

Abby Congram is the Government of Canada Youth Accessibility Leader in Stratford, Ontario. Since completing high school, she has participated in dozens of school workshops to build empathy and to educate students about inclusion and accessibility. She also reviews accessibility in her community and notifies organizations about available funding to improve accessibility. In her spare time, Abby enjoys shopping and visiting museums and art galleries. Her new volunteer position involves leading paint nights for seniors. Abby lives with Rett syndrome. She will use a Tobii Dynavox eye-tracking device during her presentation.

Maureen Donnelly, is an early childhood educator who has taught students of diverse abilities and ages, from preschool through university.  Before becoming the Curriculum Manager at Tobii Dynavox, Maureen contributed to the creation of numerous products and programs that support emergent readers. Maureen lives and works in Portsmouth, New Hampshire, in an office stuffed with children’s books.

Dr. Ellis completed PhD at the University of Toronto, developing retrovirus vectors for gene targeting. He established his own research team at the Hospital for Sick Children in Toronto in 1994 with a focus on gene therapy for Sickle Cell Anemia. There, the team worked to find a means to manipulate stem cells for molecular medicine. The Ellis team developed MECP2 vectors for gene therapy of Rett syndrome. They also developed and currently use patient induced Pluripotent Stem (iPS) cells to model Rett syndrome. In addition, they perform drug screens on patient iPS cell derived cells to exploit their potential to discover personalized medicines. 

Dr. Eubanks, PhD, is a Senior Scientist and the Head of the Genetics and Development Division at the Krembil Research Institute in Toronto. The Eubanks lab initially started investigating MeCP2 as one potential neuromodulating factor in the study of stroke and epilepsy. When mutations of the MeCP2 gene were identified as primary causes of Rett syndrome in 1999, their focus changed towards better understanding normal function of MeCP2 in the brain. Data from the Eubanks lab shows that the reintroduction of normal MeCP2 throughout the brain of MeCP2-deficient mice, or into specific regions of their brain, can improve many aspects of their Rett-like condition. The team is currently exploring potential genetic modification and pharmacological therapies for the treatment of Rett syndrome.

Jennifer Facchinelli is widely known as ‘Ava’s mom’. She has presented and shared her experiences with Rett syndrome and communication for Easter Seals, Holland Bloorview, Tobii Dynavox, Rett University, Today’s Parent, the Ontario Rett Syndrome Association, and at the University of Toronto’s Ontario Institute for Studies in Education.  

Dr. Gnanakumar is a paediatric physical medicine and rehabilitation physician at the Alberta Children’s Hospital in Calgary, Alberta. She attended medical school at the University of Calgary, residency in physical medicine and rehabilitation at Western University in London, Ontario, and paediatric rehabilitation medicine at Ohio State University. She has been in practice for eight years, and cares for children and adults with Rett syndrome.

Dr. Daniel Keene is the Senior Medical Officer and manager of the Office of Clinical Trials for Biological Agents within Biologics and Radiopharmaceutical Drugs Directorate of Health Canada. He has specialty certification in both pediatrics and neurology. In addition, he has obtained a MA in Public Policy and a Graduate Certificate in Academic Excellence in Epidemiology. Prior to coming to Health Canada, he was an active member of the Medical Faculty at the University Ottawa in the Departments of Pediatrics and Medicine, and Senior Clinical Investigator at the Children’s Hospital of Eastern Ontario. He has authored over a 100-peer reviewed scientific articles on variety of topics including identification of pediatric neurological disorders, neuro-oncology, epidemiology and health policy; as well as contributing to several sentinel medical textbooks in these areas. 

Melissa Kennedy, serves as Executive Director of the International Rett Syndrome Foundation, currently doing business as RettSyndrome.org. Melissa joined the Foundation in September of 2017, after dedicating 25 years to serving patients and their families in her various positions of hospital and health systems leadership. Melissa co-founded HealthCare Research Systems, a patient satisfaction and outcomes research company with a mission of embedding patient voice in health care delivery systems.

For several years, Sherry Lawrence has been an active member of her community in Paris, Ontario, volunteering on the Accessibility Committee for the County of Brant and working as a Fitness Instructor. Sherry has been volunteering with the Ontario Rett Syndrome Association for over 19 years.  She and her family have coordinated the Run4Rett since 2012.  Sherry and David have three adult children.  Olivia is 27 years old and has Rett syndrome.  Olivia resides at home and is supported by her parents and her network of excellent staff, who are funded by Paramed Home Care Program and MCSS Passport Program.  Olivia lives a very engaged and fulfilling lifestyle.  

Dr. Dave Lysecki is an Assistant Professor at McMaster University and an Attending Physician at McMaster Children’s Hospital. He has specialized in Paediatrics, Paediatric  Hematology/Oncology, and Pediatric Palliative Medicine. He founded the Quality of Life & Advanced Care team at McMaster Children’s Hospital, which seeks to help optimize the quality of life for children living with serious health conditions and their families.

Dr. Laura McAdam is a pediatrician at Holland Bloorview Kids Rehabilitation Hospital in Toronto. As the physician and research lead at the Complex Care Rett Syndrome Pathway Clinic, she provides medical consultative support and investigations specific to Rett syndrome. 

Dr. MacLeod is a Pediatrician and Medical Geneticist and a member of the Vancouver Island Medical Genetics Program based in Victoria B.C. He is a Clinical Professor in the Department of Medical Genetics University of British Columbia and an Adjunct Clinical Professor at the Centre for Biomedical Research at the University of Victoria. Dr. MacLeod has been involved in various aspects of Rett Syndrome Clinical Research beginning in 1985. He is currently a member of the O.R.S.A. committee that reviews various applications for research funding sponsored by the Association.

Susan Norwell, has worked with a wide array of students, including those with Rett syndrome, Autism and Multiple Disabilities for the last 44 years. She has spent the last 33 years in private practice working primarily with individuals with Rett syndrome, those on the Autism spectrum and individuals with C.P. She is trained in “Greenspan’s Floortime” model and would consider herself a relationship based educational specialist. Susan’s current focus is in teaching literacy skills to children without verbal language and with significant disabilities while integrating augmentative communication and technology supports. Susan is Co-Founder of Rett University which represents a 5-year dream of being able to provide systematic training for parents and those working with individuals with Rett.

Dr. Rastegar is an Associate Professor of Biochemistry & Medical Genetics, at the University of Manitoba, who is nationally and internationally recognized for her research on Rett Syndrome, Epigenetics, and Neurodevelopmental Disorders. The focus of Dr. Rastegar’s laboratory is mainly on the regulatory mechanisms of an epigenetic reader of DNA methylation called “MeCP2”. Dr. Rastegar’s research on Rett syndrome has been supported by different local, national, and international organizations including the International Rett Syndrome Foundation (IRSF), and Ontario Rett Syndrome Association (O.R.S.A).

Dr. Reed has over 16 years of industrial experience in drug discovery, working in startups, biotech and large pharma. He is a medicinal chemist and Staff Scientist at the Krembil, University Health Network (UHN) and Assistant Professor, Department of Pharmacology and Toxicology, University of Toronto. In 2018, Dr. Reed established the Centre for Medicinal Chemistry and Drug Discovery (CMCDD) to help academic researchers translate their discoveries into druggable targets. The goal is to work harmoniously with the researchers to develop a road map for the discovery and development of small molecule therapeutics that can be commercialized into meaningful treatments for disease. 

Mirjam Schut has a passion for helping people to overcome obstacles and look for opportunities to create and live an inclusive and meaningful life in community. Mirjam has extensive experience in providing independent facilitation in the developmental services sector and she especially enjoys working with youth who transition out of high school. Mirjam is the Lead Independent Facilitator for Facile Perth. She has experience in working with people with various disabilities including people with Rett syndrome. Her motto is to reach for the stars. In this presentation Mirjam will explain how Independent Facilitation can help you, your child or family members to look beyond the disability and how creative and out-of-the box thinking can lead to a meaningful and inclusive life for all. 

Dr. Siu is the Medical Director of the Medical Genetics Program of Southwestern Ontario. She completed her training in Paediatrics and Medical Genetics at the Hospital for Sick Children in Toronto and Children’s Hospital of Western Ontario in London.  She has had a longstanding interest in Rett syndrome, inspired by Dr. Patrick Macleod.  In 2000, she was a co-investigator on a project funded by O.R.S.A. to perform mutation analysis of the MeCP2 gene.  She founded the Rett Syndrome clinic at Thames Valley Children’s Centre in London in March 2010, and enjoys working with a multidisciplinary team providing care to many wonderful girls and their families. 

David Yang is a Master’s student at the University of Calgary in the Medical Sciences program. His research interests revolve around children with disabilities, specifically cerebral palsy. He had an opportunity to join Dr. Gnanakumar with numerous assessments of girls with Rett Syndrome and interact directly with this wonderful population through volunteer work.