Canadian Rare Disease Network

CAP/ACP Porphyria Genes Presentation and Annual General Meeting Registration
2024-06-09 14:00 - 16:00 (America/New_York)
Join Dr. Aneal Khan to learn about the genetic basis of porphyria and the implications of new advancements in genetics for the diagnosis and treatment of rare diseases like porphyria!

CMT Clinical Trial Readiness Summit
2024-06-07 08:00 - 2024-06-08 17:00 (America/Denver) | Loews Coronado Bay Resort, San Diego, CA, United States
As new clinical trials emerge for Charcot-Marie-Tooth disease (CMT), the importance of optimizing measures, endpoints and the participant experience has never been more urgent! Hereditary Neuropathy Foundation (HNF) is committed to de-risking upcoming trials by bridging the gap between clinical trial study teams and patient perspectives and experiences.
This impact-driven summit is a chance for all patients, caregivers, clinicians, industry, and regulatory to connect with one another to exchange ideas, and engage in open discussions about the obstacles we face in designing and conducting CMT clinical trials. As HNF focuses on accelerating access to critical research data and specimens, this summit will also include on-site CMT Biobank collection.

NORD Living Rare, Living Stronger Patient and Family Forum 2024
2024-06-07 08:00 - 2024-06-08 17:00 (America/Denver) | Hilton Universal City, Los Angeles, CA, United States
Th 2024 Living Rare, Living Stronger NORD Patient and Family Forum will be held in Los Angeles, CA at the Hilton Universal City on June 8. After six years, they are excited to bring this program to the west coast! This event will bring together the incredible rare disease community for a day filled with learning, networking, and relationship building. The Living Rare Forum is an opportunity for people living with rare diseases and their families to come together, often for the first time, to gain practical knowledge on how to manage their health and live their best rare lives.

Gene Therapy Webinar Series: Episode 7 – Health technology assessment (HTA) of genetic therapies
2024-06-06 16:00 - 17:00 (Europe/Helsinki)
Oriana Ciani is an Associate Professor of Practice in the Public Management and Policy, Health Economics, and HTA (Health Technology Assessment) Area at SDA Bocconi School of Management.
Her collaboration with SDA began in 2010. She coordinates the Epidemiology and Public Health module in the “Master of International Health Care Management, Economics and Politics” (MIHMEP) and teaches in numerous training courses for healthcare professionals on health economics and economic evaluation of healthcare interventions.
Her research interests focus on the use of Health Technology Assessment (HTA) in healthcare decision-making processes, methodological aspects of health technology assessments, particularly in the field of medical devices and digital technologies, evidence synthesis to inform policy choices. Oriana earned her PhD from the University of Exeter Medical School (UK) with a thesis on the validation of surrogate outcomes, which remains one of her main areas of interest.

Accessing Data through DASH: CanPath & HDRN Canada Partnership
2024-06-05 10:00 - 11:00 (America/Los_Angeles)
Are you a researcher seeking data from Canada’s largest population study – the Canadian Partnership for Tomorrow’s Health (CanPath)? HDRN Canada’s Data Access Support Hub (DASH) offers coordinated services to researchers interested in accessing administrative health data from more than one province or territory in Canada. Learn about the innovative partnership between CanPath and HDRN Canada, and discover how HDRN Canada can help you navigate the multi-regional data access process through DASH.

CPD-Accredited Webinar | Neuromuscular Mystery Case Rounds: Shoulder Asymmetry in a 3 year old
2024-06-04 17:00 - 20:00 (America/Halifax)
This case-based rounds webinar is for Canadian clinicians, academics, and trainees with an interest in neuromuscular disease. NMD4C and MDC are providing organizational and technical support. This is a an independent clinical/academic webinar with no industry sponsorship or influence.

FcRn Inhibitors and Novel Options for Myasthenia Gravis
2024-06-04 14:00 - 15:00 (Asia/Dubai)
Muscular Dystrophy Canada (MDC) is pleased to present a webinar on the neonatal Fc receptor (FcRn) pathway for people with generalized Myasthenia Gravis (gMG). MDC is excited to have their webinar speaker discuss next generation treatments for Myasthenia Gravis and help us understand how these treatments work in the neuromuscular pathway.

Perinatal and Child Health Research Annual Meetings
2024-06-02 07:30 - 2024-06-07 18:00 UTC | Sheraton Wall Centre, Vancouver, British Columbia, Canada
The realm of perinatal child health research is undergoing a rapid transformation. To enhance the well-being of our children and families, it is imperative to foster collaborative research endeavors, facilitate data sharing, provide training, and encourage networking among researchers and institutions. Consequently, nine networks have united their annual meetings to facilitate connections and eliminate obstacles to top-tier health research and training. Our objective is to unite the Canadian perinatal and child health research community in a singular location—a historic first—where innovative ideas can flourish and a collaborative environment can be established.

Gene Therapy Webinar Series: Episode 6 – Genetic therapies and therapy developments for muscular dystrophies (DMD, LGMD)
2024-05-29 16:00 - 17:00 (Europe/Helsinki)
Prof. Dr. Annemieke Aartsma-Rus is a professor of Translational Genetics at the Department of Human Genetics of the Leiden University Medical Center (LUMC, the Netherlands). She played an important role in the development of antisense mediated exon skipping for Duchenne muscular dystrophy during her PhD research (2000-2004) at the LUMC. Her work currently focuses on developing antisense-mediated exon skipping as a therapy for Duchenne muscular dystrophy and rare brain diseases. This involves work in cell and animal models to improve efficiency of exon skipping, studies in muscle pathology, the identification of biomarkers, studying the basics of pre-mRNA splicing and transcript processing and the generation and detailed analysis of mouse models.

Network 2 Network May Community Forum
2024-05-28 12:00 - 13:00 (America/Edmonton)
Register for the next N2 Canada Community Forum, where N2 will celebrate International Clinical Trials Day! Raisa Chowdhury, Project Coordinator from the Canadian Cancer Trials Network (3CTN) will present their new EDI way finder tool. Additionally, Sarah Bridges, Research Coordinator from the Maritime SPOR SUPPORT Unit and the N2 Public Engagement Committee Co-Chair will present their DIY community engagement toolkit.

Basic Research Summer School
2024-05-27 08:00 - 2024-05-28 17:00 (America/Halifax) | McGill University, Montreal, Quebec, Canada
The inaugural NMD4C basic science research summer school for neuromuscular research trainees will be held over May 27th-28th, 2024 in Montreal, QC.
This annual summer school will serve to provide lecture-based and hands-on training workshops to neuromuscular trainees in cutting-edge wet lab and bioinformatics techniques, while providing an environment for trainees to present their research and network in-person with colleagues and senior investigators from across Canada.

Supporting preclinical trainees and scientists is a key focus of the network, and we are aiming to make this event as accessible as possible for trainees to attend from across Canada. There will be no registration fee and support will be available for accommodation in Montreal and for travel.

IMAGINE Patient Training Experiences Through the PaCER Program
2024-05-24 15:00 - 16:00 (America/Chicago) | Best Western Plus Village Park Inn, Calgary, Alberta, Canada
Join IMAGINE SPOR tomorrow for Dr. Deborah Marshall’s (Steering Committee Member) session on : “IMAGINE Patient Training Experiences Through the PaCER Program” at the 2024 Northwest SPOR Collaborative Forum!

Gene Therapy Webinar Series – Episode 5: Genetic therapies and therapy developments for epileptic disorders
2024-05-23 16:00 - 17:00 (Europe/Helsinki)
Dimitri Kullmann is a consultant neurologist at the National Hospital for Neurology and Neurosurgery, and professor of neurology at the UCL Queen Square Institute of Neurology. He trained in Oxford and London, and is a Fellow of the Academy of Medical Sciences and of the Royal Society. He specialises in neurocritical care and myasthenia gravis. His research interests centre on mechanisms underlying normal and abnormal circuit function in the brain, inherited and acquired disorders of ion channels (channelopathies) and gene therapy for epilepsy.

Global Rare Diseases Research Symposium
2024-05-23 12:00 - 2024-05-25 18:30 (Asia/Shanghai) | Greenland International Convention Center, Shanghai, China
IRDiRC is co-hosting together with Hope for Rare Foundation and Fudan University, the Global Rare Diseases Research Symposium & The Second China Rare Disease Research and Translational Medicine Annual Conference on May 23-25 in Shanghai (China).
The conference will last for 2.5 days with 21 parallel sessions and several satellite meetings. It will bring together over 100 speakers from global universities, hospitals, academic institutions, and pharmaceutical companies. Topics will cover basic research on rare diseases, gene and cell therapies, Investigator Initiated Trials, clinical studies, drug development, and international research collaborations.

CureDuchenne FUTURES National Conference
2024-05-23 08:00 - 2024-05-26 17:00 (America/New_York) | JW Marriott Orlando, Orlando, FL, United States
The CureDuchenne FUTURES National Conference is an annual event focused on bringing education, connection, and hope to the entire Duchenne community.

A.I in Genomics
2024-05-22 12:00 - 13:00 (America/Creston)
A.I. in Genomics is a panel discussion and interactive Q & A with Dr. Orion Buske, Chief Technology Officer of PhenoTips and technical lead for multiple international standards and data sharing initiatives in genetics, and Dr. Mark Kiel, Chief Scientific Officer and founder of Genomenon, hosted by DNA Today’s Founder, Producer, and Host, Kira Dineen, CGC.

Clinical trials in rare disease: The role of patient registries
2024-05-22 10:00 - 11:00 (America/Edmonton)
Therapies for rare diseases are emerging at a rapid pace yet rigorous evidence regarding their safety, efficacy, and effectiveness in practice is often sparse and is difficult to generate. High quality longitudinal patient registries may help to address this evidence gap.

European Conference on Rare Diseases 2024
2024-05-15 08:00 - 2024-05-16 18:00 UTC | The Square, Brussels, Belgium
The European Conference on Rare Diseases and Orphan Products (ECRD) is the largest, patient-led, rare disease policy-shaping event held in Europe. By bringing together people with rare diseases and patient advocates, policy makers, healthcare industry representatives, clinicians, regulators and Member State representatives, EURORDIS harnesses the power of this extensive network to shape goal-driven rare disease policies of the future.
With over 600 participants, the Conference is an unrivalled opportunity to network and exchange invaluable insights within the rare disease community. Through collaborative efforts, these discussions culminate in clear policy recommendations that can influence both EU and national policies.
The 12th ECRD is a fully hybrid conference taking place on 15 & 16 May 2024 online and at The Square in Brussels.

RARE Bootcamp
2024-05-14 08:00 - 2024-05-16 17:00 UTC
The RARE Bootcamp is designed for patients and advocates who have started funding rare disease research and are looking to better coordinate and build structure around their efforts. For more information or to register, please email bootcamp@ultragenyx.com

PxP Webinar 2 2024: Motivations for being a patient partner in research
2024-05-09 13:00 - 14:30 (America/New_York)
The webinar series is all about patient engagement in health research, also known as patient and public involvement (in the UK) or consumer involvement (in Australia). ‘Patient engagement’ in health research is where patients are research team members. This is different from volunteering to be a research participant where you might help advance research or healthcare, but a research participant generally does not give input into the research study itself.
