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.

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

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.

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?

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)

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.

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.

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.

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.

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.

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.

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.

RARE Storytelling Webinar
2024-07-16 12:00 - 13:00 (America/New_York)
While each rare disease presents unique challenges, the common thread of stories and experiences unites us as a community. Global Genes rare storytelling initiative aims to empower individuals within the community with the tools to share their narratives through various mediums such as blogs, articles, in-person presentations, and podcasts.

Sneak Peek into Rare Disease Day 2025
2024-07-17
Join our upcoming webinar for a sneak peek into Rare Disease Day 2025!
On Wednesday 17 July we will be hosting three webinars throughout the day to cater to different time zones, so no matter where you are in the world, you can stay up to date on what to expect for the 2025 campaign.
Learn more about the resources we are revamping and the brand-new downloads we will be producing (with the help of our creative agency and our global partners). We will also be sharing the creative concepts for 2025’s video and poster, so you can start planning how you’d like to use our resources in your national contexts for Rare Disease Day 2025!

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

Living with Rare Neuroimmune Conditions: Patient Views & Perspectives
2024-07-20 11:30 - 12:15 (America/Halifax) | Hilton Atlanta, Atlanta, GA, United States
Please join Sumaira Ahmed, NMOSD patient and founder of The Sumaira Foundation, for a panel discussion featuring five patients living with rare neuroimmune conditions. Patient perspectives and lived experiences are essential to guiding R&D efforts and generating real-world evidence for therapeutic advances. This is especially true for rare diseases such as NMOSD, MOGAD, autoimmune encephalitis and stiff person syndrome. Yet far too often, the voices of patients are overlooked, marginalized or excluded. This is an opportunity to hear directly from a diverse group of patients living with these disorders who are also actively advocating for their communities. Sponsored by The Sumaira Foundation.

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.

CHILD-BRIGHT Network - Applying Anti-Racism Principles in Healthcare
2024-07-31 12:00 - 14:00 (America/Halifax)
Join us for “Applying Anti-Racism Principles in Health Care,” on July 31, 12:00-2:00 p.m. EST/10:00 a.m.-12:00 p.m. PST. In this interactive workshop, Anna Hossain will be exploring systemic racism in the health care and research sectors.
Key highlights:

Recognize and understand the impacts of unconscious bias in health care interactions and relationships

Understand the foundations of anti-racism and anti-oppression

Gain practical tools to mitigate bias and support inclusive leadership

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.

Showing Up 101
2024-08-15 15:00 - 16:00 (America/Chicago)
“Showing Up 101” is a gently guided, grief informed experience intended to share a language of loss, introduce frameworks for grieving and coping, and promote openness and connection for moving with loss. The content is grounded in bereavement-science, lived experience, and movement-based practices for regulating ourselves. In this 60 minute session, participants will feel equipped and empowered to integrate loss language in their lives, to better communicate how they are feeling to themselves and others, and to understand the power of community for sustaining the hardest, most painful losses. The session is led by Myra Sack, a bereaved mother who is also a Compassionate Bereavement Care Provider, Founder of E-Motion, Inc., and the author of Fifty-Seven Fridays: Losing Our Daughter, Finding Our Way.

Prioritizing Disability Inclusion in Health Research
2024-08-19 13:00 - 14:00 (America/New_York)
Join members of the CHILD-BRIGHT National Youth Advocacy Council on Aug. 19 at 1 p.m. ET/10 a.m. PT as they explore the crucial importance of including people with disabilities in health research focused on equity, diversity, inclusion, decolonization, and Indigenization (EDI-DI). They will define key concepts such as tokenism, infantilization, and non-inclusive environments, leading to a discussion of why inclusion is essential and an overview of elements of inclusive research practice.

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.
