Canadian Rare Disease Network

MitoMed Conference 2024
2024-06-26 08:00 - 2024-06-29 18:00 UTC | Hilton Cleveland Downtown, Cleveland, OH, United States
Each year, the United Mitochondrial Disease Foundation (UMDF)’s Mitochondrial Medicine Conference brings together the best minds in mitochondrial medicine and gives patients and families the opportunity to meet some of the top clinical mitochondrial specialists from around the world. With over 700 attendees representing almost every state in the U.S. and more than 15 different countries, the Conference is recognized as the world’s preeminent event for mitochondrial disease.

International Society of Systemic Auto-Inflammatory Diseases(ISSAID) Summer School 2024
2024-06-26 08:00 - 2024-06-28 17:00 (Europe/Helsinki) | Green Garden Hotel, Warsaw, Poland
ISSAID is delighted to announce the International Society of Systemic Autoinflammatory Disease (ISSAID) Summer School 2024 that will take place on the 26th-28th June 2024.
The attendance to the Summer School will be in-person and the venue will be Green Garden Hotel, in beautiful Warsaw, Poland.
The interactive programme is primarily aimed at junior physicians, residents, and fellows. During the course, you will learn from expert physician-scientists on the recognition, pathophysiology, and management of the spectrum of systemic autoinflammatory diseases (SAID) and perplexing presentations of immunodysregulation, autoinflammation and immunodeficiencies. Behçet’s disease and mimics, IL-1 mediated diseases, interferonopathies and undifferentiated SAID will be discussed from different perspectives involving international experts for each specific field.
You will gain knowledge on the diagnosis, treatment, and management of systemic autoinflammatory diseases, using a combination of expert-led keynote presentations and case-based discussions. The objective of the Summer School is to support young investigators and clinicians in their training and day-to-day care of these complex diseases in their practice. Another objective is to promote collaborations, which is a key to improve the care of patients with these rare conditions.

Caregiver Connextion
2024-06-21 15:00 - 16:00 (America/New_York)
Join Jett Foundation’s monthly virtual support group for parents, family members or caregivers of females who have been diagnosed with Duchenne muscular dystrophy or are symptomatic carriers.

June National Pain Round: The Science of Pain - Learning from Human Cells
2024-06-21 12:00 - 13:00 (Asia/Dubai)
Human cell research is pivotal in the pain space as it offers unparalleled insights into the underlying molecular mechanisms by bridging the gap between traditional preclinical animal models of pain and those that suffer from pain in society. Fundamental research findings using these new human tissue approaches can lead towards the development of targeted therapies. Engaging people with lived experience in this research is crucial as it ensures that the research is focused on what people actually need, leading to better health and a happier life for those dealing with pain. We will discuss some promising human cell research in development in our labs, highlighting how people with lived experience have been involved in these studies.

Solve-RD workshop: Strategies for omics data analysis & reanalysis
2024-06-20 12:00 - 13:30 (Europe/Helsinki)
The strategies developed for Solve-RD for omics data analysis and reanalysis will be presented. There will be a discussion on challenges, advantages as well as future developments.

LGBTQ+ Health Care Praxis: Building More Equitable and Just Futures Today
2024-06-20 12:00 - 13:00 (Asia/Dubai)
This conference is part of the Montréal Health Ethics Lecture Series 2024. It will be presented in English.
How might we build more equitable and just futures for LGBTQ+ people and communities, and what does health care have to do with it? This talk explores the connections between care ethics, care practices, organizational cultures, and praxis—that is, the practical application of theories in our work—in the context of LGBTQ+ health care. Informed by historical and contemporary examples, it offers opportunities for solidarity and collective resistance among patients and providers working together to dismantle and transform unjust systems

Hidden in Plain Sight: Autosomal Dominant Tubulointerstitial Kidney Disease
2024-06-20 12:00 - 13:00 (Asia/Dubai)
C-Path’s Rare and Orphan Disease Programs is excited to have Dr. Anthony Bleyer present their June webinar, “Hidden in Plain Sight: Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD).” Dr. Bleyer is a Professor of Internal Medicine/Nephrology at Wake Forest University School of Medicine, with adjunct appointments at the Broad Institute of Harvard Medical School and Massachusetts Institute of Technology, and the Institute for Inherited Metabolic Disorders at Charles University, Czech Republic.
Dr. Bleyer led the team that identified mutations in the UMOD gene as a cause of ADTKD and has been leading the Wake Forest Rare Inherited Kidney Disease team for the last 25 years. His presentation will cover the genetics of ADTKD, its biology and mechanisms, a description of the Wake Forest registry, and unmet drug development needs.
Join C-Path for this valuable opportunity to gain insights from an expert in the field.

Gene Therapy Webinar Series – Episode 11: Safety issues in gene therapies and how to address them
2024-06-19 16:00 - 17:00 UTC
Professor Francesco Muntoni is a Paediatric Neurologist with an interest in clinical, pathological and molecular aspects of neuromuscular disorders.
He is the director of the Dubowitz Neuromuscular Centre, a leading clinical and research institution for children affected by neuromuscular disorders. At the centre more than 1,600 children affected by neuromuscular diseases are assessed every year by a team of experts from different disciplines.

Alberta SPOR Support Unit - Patient Engagement Team Journal Club
2024-06-19 10:00 - 11:00 (America/Chicago)
Join us for June’s Journal Club discussing “Being a sibling of a youth with a neurodisability: A qualitative study about the roles and responsibilities during the transition to adulthood”. Register here: http://bit.ly/3V57YJB Questions? Ask Sadia Ahmed (sadahmed@ucalgary.ca)

Being a sibling of a youth with a neurodisability: A qualitative study about the roles and responsibilities during the transition to adulthood
2024-06-19 10:00 - 11:00 (America/Denver)
Join June’s Journal Club discussing “Being a sibling of a youth with a neurodisability: A qualitative study about the roles and responsibilities during the transition to adulthood”. Ask Sadia Ahmed (sadahmed@ucalgary.ca)

Is this okay? Community attitudes on using health data in research in Canada and Australia: A cross-cultural exchange
2024-06-18 12:00 - 14:00 (Asia/Dubai)
The access and use of health data for research raises concerns related to privacy, commercial motives, equity and fairness for members of the public who want to know who is using data generated from their personal information and why. But despite concerns, there are clear benefits to using health data in research, including better patient care, better health system planning, and better understanding of disease and wellness.
In this two-hour, interactive workshop co-hosted by HDRN Canada. and PHRN Australia, Julia Burt and Dr. Annette Braunack-Mayer will discuss how public engagement and dialogue can help us understand community attitudes about the use of health data in research. They will explore why members of the public support the use of health data in research and under what conditions, as well as reservations or concerns that arise. Julia and Annette will compare engagement methods from their respective research projects on community attitudes related to the use of health data in research, and share findings from Canada and Australia.

IRSF Rett Syndrome Scientific Meeting
2024-06-18 08:00 - 2024-06-19 17:00 UTC | westminister, Westminister, CO, United States
Part of ASCEND 2024, the IRSF Rett Syndrome Scientific Meeting brings together scientists and researchers studying Rett syndrome and related areas from around the world. During this 2-day meeting, attendees representing academia, industry, and governmental agencies will share their latest research advances and discuss ways to leverage learning in the lab to be rapidly deployed in the clinic.
The IRSF Rett Syndrome Scientific Meeting is the only annual, global, and comprehensive research meeting focused exclusively on Rett syndrome.

Health Technology Assessment International Annual Meeting 2024
2024-06-15 09:00 - 2024-06-19 13:00 (Europe/Helsinki) | Barcelo Convetion Centre, Seville, Spain
Held each year in June, the HTAi Annual Meeting is a key international gathering for sharing cutting-edge research, advancing discussions in policy and methods, and building global networks.
Throughout the 5-day conference, attendees to interact with colleagues from different countries, exchange ideas and expertise, reconnect with old friends and grow new collaborations and supportive and lasting connections. The HTAi Annual Meeting provides a unique environment to develop international collaborations and face the challenges posed in our local and global health systems today. Through continuous growth and expansion, the meeting consistently draws together a large number of researchers, agencies, policy makers, industry, academia, health service providers, and patients/consumers to share information and best practices from cutting-edge technologies to system development with a focus on the impact on patient care. All parties interested in health technology assessment are welcomed.
The HTAi Annual Meeting supports HTAi’s mission to promote the development, understanding and use of HTA around the world as a means of fostering innovation and effective use of resources in health care.

Gene Therapy Webinar Series: Episode 8 – Genetic therapies and therapy developments for ALS
2024-06-13 16:00 - 17:00 (Europe/Helsinki)
Dr Vázquez Costa has a MD in Neurology (2012) and PhD in motor neuron diseases (2019). Since 2013 he is devoted to the care of motor neuron disease patients and in 2020 he was granted a Juan Rodés excellence contract from the Carlos III Health Institute, to coordinate the motor neuron disease unit at Hospital la Fe. He also co-chairs the ALS Genetic Spanish consortium (ALSGESCO) and is member of the Spanish research network for rare diseases (CIBERER). This unit is a referral Spanish and European centre for the treatment and research in ALS and SMA, and participates in the European Network to Cure ALS (ENCALS) and the TRICALS consortium. Dr Vázquez Costa has participated in more than 20 research projects and in more than 30 clinical trials in both ALS and SMA, and has published more than 80 articles in indexed journals in neuromuscular diseases. He has carried out research stays at the Psychiatry department of the Universitätsklinikum in Freiburg (Germany) and at the Martinos Center for Biomedical Imaging in Boston (USA) and has collaborated and collaborates with researchers from numerous research institutes and universities. Since November 2019 he is an associate professor of neurology at the University of Valencia.

Palliative Care Webinar
2024-06-13 13:00 - 14:00 (America/New_York)
Join Jett Foundation’s Community Webinar Series on June 13 to hear from Dr. Ashley Nichols on palliative care, a medical care focused on relief from pain and symptoms of illnesses and diseases.

World Congress for Rare Skin Disorders
2024-06-12 10:00 - 2024-06-14 14:00 (Europe/Paris) | Maison Internationale, Paris, France
The objectives of the world congress for rare disorders are:

To learn on diagnosis (including pathophysiology and disease classification)
To develop a multidisciplinary approach and improve their skills to manage common problems in rare and complex skin disorders
To know more on last research findings and tools in the field of skin biology, genetics, therapeutics
To learn more on patient engagement and empowerment as well as patient education programs

Brain-Heart Interconnectome State of the Science Summit
2024-06-12 08:00 - 2024-06-14 17:00 (America/Halifax) | National Arts Centre Ottawa, Ottawa, Ontario, Canada
The Summit is an international conference set to highlight cutting-edge science at the crossroads of brain and heart health, showcasing innovation and state-of-the art research. Learn from international experts, leaders within the Brain-Heart Interconnectome and the next generation of researchers working in brain and heart health.
The event will take place June 12-14, 2024 at the National Arts Centre,1 Elgin St. in Ottawa, ON.

RARE Pride: A Queer Conversation
2024-06-11 11:00 - 12:00 (America/New_York)
Does your identity as LGBTQ+ intersect with your life as a rare disease patient, parent, caregiver or ally? Global Genes will be hosting a forum for stakeholders in the rare disease community to discuss their intersectionality as part of both the rare community and queer / LGBTQIA + community. Global Genes wanted to create a safe space for individuals to share their lived experience and provide support for each other.

Corticosteroids and Neuromuscular Disorders
2024-06-10 12:30 - 13:30 (America/New_York)
Muscular Dystrophy Canada (MDC) is pleased to present a webinar on corticosteroids and how and why they are used in people diagnosed with neuromuscular disorders.

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.
