Canadian Rare Disease Network

Pediatric Inclusion Roundtable - Effective Inclusion of Children Early in Clinical Trials
2024-07-16 08:30 - 17:30 (America/Halifax)
Join Leavitt Partners, LLC, and Friedreich’s Ataxia Research Alliance (FARA) for the Pediatric Inclusion Roundtable: Effective Inclusion of Children Early in Clinical Trials. The program will engage all stakeholders regarding the need for including children earlier in clinical development, the requirements for early inclusion, and the most effective means for meeting those requirements.

CADTH: CDA-AMC Webinar – An Update on the Development of Newborn Screening Guidance in Canada
2024-07-11 13:00 - 14:00 (Asia/Dubai)
Join Dr. Hilary Vallance and Whitney Ayoub-Goulstone, cochairs of the Newborn Screening Advisory Panel, provide an update on our work to develop pan-Canadian guidance for newborn screening programs across the country in support of the Government of Canada’s National Strategy for Drugs for Rare Diseases. This update will focus on the foundational elements in scope for the advisory panel, including developing a proposed common set of guiding principles for newborn screening, exploring a proposed process and the criteria for the addition or removal of conditions, and recommending conditions that newborn screening programs in Canada could screen.
As part of this event, a discussion paper will be posted on our website with an open call for feedback.

Tell Me More: Why is Obtaining a Diagnosis Challenging?
2024-07-11 12:00 - 13:30 (America/Halifax)
We invite you to our next UDNF Tell Me More Lecture Series on Thursday, July 11th at 12:00 p..m. ET for Why is Obtaining a Diagnosis Challenging? – Navigating the Uncharted Waters of an Ultra Rare Disease.
Are you an undiagnosed patient who has been on a long diagnostic odyssey? Come join us for a discussion of the various types of testing used to obtain a diagnosis and their limitations. The complexity of attaining a diagnosis will be explored. Tips to help shorten the diagnostic odyssey will be presented. Lastly, strategies to remain hopeful while living undiagnosed will be shared.

PRISMS Leads the Way To Support Those Living with Smith-Magenis Syndrome at 12th International Conference
2024-07-11 - 2024-07-13 | Hyatt Regency Dallas, Dallas, TX, United States
PRISMS 12th International Conference is the largest conference specifically focused on Smith-
Magenis Syndrome (SMS) in the world. The conference goal is to educate and share information about SMS while providing opportunities for engagement and community amongst SMS families and professionals. This educational and family support multi-day event is a critical program for the SMS community.
The conference theme is “Leading the Way Together” and will share the most recent advances in diagnosis, treatments, and management of SMS throughout the lifespan.
Registration for PRISMS’ 12th International Conference is now open. The conference will be held at the Hyatt Regency in Dallas, TX July 11-14, 2024.

North America Rare Diseases Summit 2024
2024-07-11 | Radisson Blu Aqua Hotel, Chicago, IL, United States
This event brings together leading researchers, healthcare professionals, patient advocates, policymakers, industry experts, and rare disease patients and families. The summit emphasizes the power of collaboration and solidarity in facing rare diseases.

Webinar: Rare Barometer survey on the impact of rare diseases on everyday life
2024-07-10 14:30 - 16:30 (Europe/Helsinki)
On Wednesday 10 July, Rare Barometer, the global survey initiative of EURORDIS – Rare Diseases Europe, will launch a new survey on the impact of rare diseases on everyday life.
The survey will be open to all people living with any rare disease and their family members worldwide and will be available in 25 languages, from 10 July to 8 September.
Join us on 10 July for a webinar, when we will discuss the objectives and content of this new survey, how your participation can influence policy and advocacy, and where we will present you with a communication toolkit to help disseminate the survey amongst your networks.

The Global Cell & Gene Therapy Summit
2024-07-08 08:00 - 2024-07-10 17:00 (America/Halifax) | Boston Marriott Newton Hotel, Boston, MA, United States
Cell and gene therapy represent intersecting fields of biomedical research with the shared goal of treating, preventing, or curing diseases. These approaches are aimed at understanding the underlying causes of various diseases, ranging from rare and complex conditions to those with genetic or acquired origins. This rapidly expanding treatment approach is poised to address significant unmet medical needs across a wide range of conditions. However, the conceptual framework of cell and gene therapy is both expensive and requires precision, presenting challenges for industrial implementation and patient accessibility.
Emerging tools and techniques in the market have facilitated the adaptability and utilization of cell and gene therapy. These advancements have made it easier to employ CGT as a method of treating diseases, including rare and complex disorders, single gene disorders, and various types of cancer. With these advancements in mind, the International Summit on Cell and Gene Therapy serves as a platform to explore the fundamental concepts of these transformative therapies. The summit brings together experts from academia and industry to discuss a range of topics related to cell and gene therapy, including ethical considerations, social implications, tools, techniques, marketing strategies, and the commercialization of cell and gene therapy products. It also showcases the latest research progress in CGT and explores opportunities for further enhancements in availability and productivity of these therapies. By fostering collaboration and knowledge exchange, the summit aims to advance the field of cell and gene therapy, benefiting patients worldwide.

ALS Clinical Trials Unboxed
2024-07-04 13:00 - 13:30 (America/Halifax)
On Thursday, July 4, at 1 p.m. ET, join ALS Canada for our next ALS Clinical Trials Unboxed webinar to learn more about ongoing ALS clinical trials. In this webinar, Dr. Richard Robitaille from the Université de Montréal will present on an investigator-initiated trial of darifenacin.

Questions, Answered: Genetic Counselling & Autoinflammatory Diseases
2024-07-04 12:00 - 13:30 (America/Halifax)
Have you ever wondered what genetics counselling is, and how it works?
As part of its new Questions, Answered series, the Canadian Autoinflammatory Network – Réseau Autoinflammatoire Canadien has invited Montreal Clinical Research Institute’s genetic counsellors Valérie Poulin and Géraldine Gosse to teach autoinflammatory patients about genetics counselling and autoinflammatory diseases.
During the presentation, Valérie and Géraldine will present on the following topics:

Genetics 101
The process of genetic testing, the possible results and implications for patients and their family
An overview of the genetic heterogeneity of autoinflammatory syndromes

Following the presentation, there will be ample time for questions from the audience.

State of the art of clinical stage gene therapies for Leukodystrophies - EURO NMD
2024-07-02 03:00 - 16:00 (Europe/Helsinki)
Educational webinars on rare neurological, neuromuscular and movement disorders jointly organized by the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN-EuroNMD) and the European Academy of Neurology (EAN).
Dr. Caroline Sevin is a pediatric neurologist at Kremlin Bicêtre hospital. She leads the French reference center for leukodystrophies in children at Kremlin Bicêtre hospital, France. ‪She has long-standing interests in neurodegenerative metabolic diseases, including lysosomal, peroxysomal and mitochondrial diseases. She has a strong background in leukodystrophies, particularly Adrenoleukodystrophy, Metachromatic leukodystrophy and Krabbe disease. She’s part of international consortia for MLD and ALD. CS is PI or co-PI of several clinical trials, mostly in ALD and MLD, using innovative therapies (gene therapy, intrathecal enzyme replacement therapy, small molecules). Her research activity focuses on developing in vivo/ex vivo gene therapy and small molecules approaches for leukodystrophies.

Gene Therapy Webinar Series: Episode 10 – Genetic therapies and therapy developments for SMA
2024-06-27 16:00 - 17:00 (Europe/Helsinki)
Jan Kirschner (Professor of Pediatric Neurology) has been joint coordinator of the German network for neuromuscular disorders MD-NET (www.md-net.org) since 2008. He has been involved in planning and conducting several multicentre clinical trials. He was responsible for the coordination of a large multi-centre, placebo-controlled MD-NET trial in Duchenne muscular dystrophy. Jan has established the Care and Trial Site Registry (CTSR) containing feasibility information about neuromuscular centres worldwide. Jan has coordinated the CARE-NMD project funded by the European Union (2010-2013) with the aim to improve standard of care for Duchenne muscular dystrophy throughout Europe (www.care-nmd.eu). He has a long-standing interest in the diagnosis and treatment of myopathies, muscular dystrophies, and motoneuron diseases in children and adolescence. He is an experienced clinical researcher in this area. Jan and his team have established the SMArtCARE network to collect real-world data for patients with SMA in German speaking countries (www.smartcare.de).

IFPA Conference the 7th World Psoriasis & Psoriatic Arthritis Conference
2024-06-27 - 2024-06-29 | Stockholm Waterfront Congress Centre, Nils Ericsons Plan 4, Stockholm, Sweden
Established in 2006, the IFPA Conference (also known as the World Psoriasis & Psoriatic Arthritis Conference) provides a unique, cross-specialty platform. Medical and health professionals present frontline clinical research in dermatology, rheumatology and beyond. Delegates can explore psoriatic disease from different perspectives by networking with patients and industry representatives in attendance. The IFPA conference calls for breakthroughs in research that will improve the understanding of all aspects of psoriatic disease.
The next conference will be held 27-29 June, 2024 in Stockholm, Sweden.
The theme of this Conference is: Uncovering the broad spectrum of psoriatic disease

6th Fibrodysplasia Ossificans Progressiva (FOP) Drug Development Forum
2024-06-26 17:00 - 2024-06-28 18:00 (Europe/Stockholm) | Elite Hotel Tower Marina, Stockholm, Sweden
The Drug Development Forum (DDF) brings together biotech and pharmaceutical companies, academic researchers and clinician scientists to collaborate and advance Fibrodysplasia Ossificans Progressiva (FOP) research. It’s an opportunity to discuss emerging FOP data and highlight gaps in our understanding of FOP disease pathogenesis that could offer new therapeutic options. The June 2024 event offers both in-person and virtual attendance options. Due to the content being shared, only FOP family members who are invited to speak or are members of the International Presidents’ Council or IFOPA’s Research Committee may register.
With the first-ever treatment for FOP approved in select countries and five active FOP clinical trials, there is still an abundance of preclinical research with the potential to be translated into safe and effective new medicines. Molecules advancing drug discovery, advanced therapeutic modalities and new technologies must continually be explored for their potential to treat understudied signs and symptoms of FOP.

LGBTQIA+ Affirming Prenatal Genetic Counseling
2024-06-26 12:00 - 13:00 (America/New_York)
Join PhenoTips live on June 26th from 12 – 1 p.m EST, for the 29th installment of PhenoTips’ Speaker Series, “LGBTQIA+ Affirming Prenatal Genetic Counseling” LGBTQIA+ Affirming Prenatal Genetic Counseling is a discussion and interactive Q & A with Rozalia Valentine, Genetic Counselor at Boston’s Children, and Chelsea Wagner, Lead Genetic Counselor at BillionToOne, hosted by DNA Today’s Founder, Producer, and Host, Kira Dineen, CGC.

End-user Training for the EJP RD Virtual Platform
2024-06-26 10:00 - 12:00 (Europe/Helsinki)
EJP RD – European Joint Programme on Rare Diseases – End-user Training for the EJP RD Virtual Platform
This training is intended for potential users of the Virtual Platform (VP) that is developed in the context of the EJP RD Pillar 2 activities.
At the end of this webinar, you will be able to:

Describe how to interact with the Virtual Platform as a network of connected resources

Identify different entry points of different types of users to the Virtual Platform

State some current functionalities of the Virtual Platform Portal

General introduction to the interface

Where to find connected resources

What types of resources are available

How to login

How to search resources with different level of granularity

State functionalities that could be built on top of the Virtual Platform network (co-creation/co-development)

RITA Patient-Centered: Social rights of a person with a rare disease and the patient perspective in advocacy, the case of Malta
2024-06-26 10:00 - 11:00 (America/Chicago)
The new ERN RITA Patient-Centered Webinar Series is made by the Education Working Group with patients advocates active in the ERN RITA and focuses on the unique needs and challenges faced by immunological rare disease patients and their caregivers.
For this next session, they will have Raquel Castro, Social Policy and Initiatives Director at EURORDIS-Rare Diseases Europe, and Sina Bugeja, Health Promotion Specialist and lecturer at the University of Malta in two presentations:

Access to social rights: barriers, key issues and how can you take part to an upcoming Rare Barometer survey.
The patient perspective in advocacy: the case of Malta. How to put rare diseases on the European agenda? How can an advocacy committee reach out to MEPs to seek their endorsement?

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.
