Canadian Rare Disease Network

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.

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)

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)

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.

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.

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.

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.

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.

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.

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.

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?

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.

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.

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

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).

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.

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.

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.

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.

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.

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.

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.

2024 Global Learning Conference
2024-07-17 08:00 - 2024-07-21 17:00 (America/Halifax) | Philadelphia Marriott Downtown, Philadelphia, PA, United States
The Ehlers-Danlos Society is delighted to welcome you to register for our 2024 Global Learning Conference in Philadelphia, Pennsylvania, USA! Ehlers-Danlos Society will be hosting this exciting hybrid event, both in-person and virtually. Join individuals and families with Ehlers-Danlos syndromes (EDS) and hypermobility spectrum disorders (HSD) for up to five days of learning, collaboration, and networking.
The conference theme is “EDS and HSD: From Head to Toe” and will feature presentations, case studies, and panel discussions led by experts on the management of symptoms and comorbidities from head to toe in EDS and HSD. The event is suitable for community members and their friends and families, as well as healthcare professionals.

Racial and Ethnic Diversity in Pediatric Clinical Trials: Current Barriers and a Path Towards Inclusive Clinical Trial Design and Conduct
2024-07-17 12:00 - 13:00 (America/Halifax)
Webinar objectives:
1. Understand the role that historical and ongoing marginalization play in research participation
2. Discuss how research findings in homogeneous populations are not generalizable to all children
3. Describe research approaches that can improve diversity and inclusion in pediatric clinical trials

EURO-NMD Gene Therapy Webinar Series - Genetic therapies and therapy developments for rare movement disorders
2024-07-23 15:00 - 16:00 (Europe/Amsterdam)
Willeke van Roon-Mom is a full professor of Human Genetics, in particular of translational studies of neurodegenerative disorders. Her work is highly translational in nature, working in close collaboration with clinical departments and industry. Unique patient-driven fund raising initiatives contribute not only financial input, but also patient perspective to research programs in her group. The main topic of her research is autosomal dominant neurodegenerative diseases that have aberrant protein aggregation as a pathological hallmark. She studies molecular disease mechanisms, identifies biomarkers and then uses this knowledge to develop novel therapies with a focus on RNA targeting antisense oligonucleotide therapies. She is the co-founder and co-lead of the Dutch Center for RNA Therapeutics that aims to develop RNA targeting therapies for patients with ultra-rare mutations.

Platelet Disorder Support Association-ITP Conference 2024
2024-07-26 08:00 - 2024-07-28 17:00 (America/New_York) | The Westin Riverwalk, San Antonio, TX, United States
This year, PDSA will host its 24th annual update on immune thrombocytopenia (ITP) for patients, caregivers and the medical community in San Antonio, Texas July 26-28. This year’s patient conference will take place at The Westin Riverwalk in downtown San Antonio. Each year the ITP conference provides opportunities to hear the latest information about ITP, meet others who are coping and living with ITP and receive answers to your medical questions. You will also have the opportunity to ask your questions to PDSA’s Medical Advisors, who are some of the most experienced ITP doctors in the world. You don’t want to miss out on this tremendous opportunity to hear and talk with these world-renowned experts.
In addition to the educational program and social events, the conference will feature several small group sessions to give you an opportunity to get to know other patients and caregivers in an intimate environment. They will also offer programs for children at our Kids Kamp for children ages 5-12. Like conferences in the past, this year’s conference will provide a separate track for teens and young adults.

Considerations for effective integration of gender and sex in research and clinical trials
2024-08-07 12:00 - 13:00 (America/Halifax)
In this session, Dr. Natalie Rosen will explore best practice guidelines for researchers to build more equitable, reflective, and inclusive research and clinical trials with respect to gender and sex. Dr. Rosen will touch briefly on a variety of topics including, participant eligibility, recruitment, sampling plans and data analysis, measurement of genders and sexes, responsiveness across time, and working with validated scales. The objective is to stimulate critical thought about effective integration of sex and gender in research and clinical trials and to offer some key resources for continued learning.

Reproductive Health and Autoinflammatory Disease
2024-08-11 11:00 - 12:30 (America/Chicago)
Have you ever wondered about how autoinflammatory diseases and their treatments affect your reproductive health?
As part of its Questions, Answered series, the Canadian Autoinflammatory Network – Réseau Auto-inflammatoire Canadien has invited University College London and NHS’ Dr. Helen Lachmann to teach autoinflammatory disease patients about covering conception, pregnancy and breastfeeding in general, as well as specifics concerning some specific drug interactions.

CORD Hosts Open Dialogue with Health Canada Webinar
2024-08-21 12:00 - 13:00 (America/Halifax)
1st Bilateral agreement to deliver on Canada’s promise of accelerating access to therapies for rare disease patients has been signed with BC. Two drugs are listed in the announcement. How will the program work in BC and other provinces? Which provinces are next? Which drugs are next? How will patients and others be involved? Guest Speaker: Daniel MacDonald, Director General, Drugs for Rare Diseases, Strategic Policy Branch, Health Canada

Int'l Autoinflammatory Awareness Month 2024: Patient Care & Advocacy
2024-08-24 09:00 - 12:00 (America/Denver)
Learn about adult and pediatric care for autoinflammatory diseases, research networks, standup comedy, patient advocacy plus breakout rooms.
