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.

Exploring the Brain – Advocating for Your Child with Disabilities
2024-08-28 19:00 - 20:30 UTC
Are you a parent, caregiver or educator looking for ways to best support a child or children with disabilities? Join panelists for this upcoming webinar! They’ll cover crucial topics to help you advocate and achieve results for your child. Learn how to navigate the individualized education program (IEP) process effectively; foster a positive, inclusive school experience; and find inclusive community activities and services. They’ll explore community and social opportunities to enhance your child’s development and discuss planning for a successful transition from school to adulthood. Don’t miss this chance to gain valuable insights and connect with experts dedicated to empowering you and your child.

WHA Resolution on Rare Diseases Webinar
2024-08-30 14:00 - 15:30 (Europe/Helsinki)
This year, Rare Diseases International has begun advocating for the World Health Assembly to have a Resolution on Rare Diseases in 2025, and we need your help to make it a success. This webinar, co-hosted by RDI the Arab Republic of Egypt, the State of Qatar, and Spain will be an opportunity to explain in more detail the opportunities to improve the lives of persons living with a rare disease (PLWRD) and the need to make the Resolution a reality.

Scientific Advancements in Gene Therapies: Opportunities for Global Regulatory Convergence
2024-09-04 10:00 - 16:00 (America/New_York)
The Reagan-Udall Foundation for the FDA, in collaboration with the Bill & Melinda Gates Foundation, will host a hybrid public workshop on “Scientific Advancements in Gene Therapies: Opportunities for Global Regulatory Convergence.”
Gene therapies work by replacing, silencing, and/or modifying specific genes within a cell to treat, prevent, or cure a disease, and have been used to treat both inherited diseases such as sickle cell disease and acquired disorders such as leukemia.
This public workshop will provide a baseline about the current state of gene therapy interventions, including approved products and considerations for currently licensed gene therapy products and regulator roles regarding these therapies, particularly in low and middle income countries; explore the “next generation” of gene therapies and the breadth of where those products might be deployed; and discuss the opportunities and needs for regulatory oversight of these products in emerging markets. Speakers will include patient advocates, clinicians, academic researchers, biotech/pharma representatives, and regulators.

ERKNet Webinar: "MGRS" by Roberta Fenoglio
2024-09-10 08:00 - 09:00 (America/Denver)

PxP 2024 Conference (For Patients, By Patients)
2024-09-10 08:00 - 2024-09-12 17:00 UTC
Standing for ‘For Patients, By Patients’, PxP 2024 is entirely led by an international team of patient and public partners and is a Patients Included™ event. Our purpose is to share resources, mentorship and community with patient partners and others involved in health research. Ultimately, our goal is partnering to make research stronger.
This free, virtual event aims to bring you a wealth of knowledge, skills and resources on patient engagement in health research. 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. Whatever language you prefer, we warmly welcome everyone to attend.

Designing effectiveness-implementation hybrid trials in child health research
2024-09-11 12:00 - 13:00 (America/Halifax)
The webinar will introduce effectiveness-hybrid designs, showcase examples, and outline important considerations for conducting these types of studies. It will also briefly summarize tensions that may occur in conducting implementation research and mention tools to support implementation planning and execution.

EMPOWER & INSPIRE 3RD ANNUAL LEIGH SYNDROME SYMPOSIUM
2024-09-17
Empower & Inspire: Understanding and Accelerating Research for Leigh Syndrome
Tuesday, September 17, 2024
Brought to you by:
​Cure Mito Foundation & integrative Cardiovascular Metabolism and Pathophysiology Laboratory (iCaMP) at Boston University
For details please visit curemito.org/conference

RITA Patient-Centered: Risk of Infection and Immunological Rare Diseases
2024-09-18 10:00 - 11:00 (America/Chicago)
Join the webinar “Risk of Infection and Immunological Rare Diseases,” featuring Dr. Laia Alsina, MD, PhD, Chief of the Clinical Immunology and Primary Immunodeficiencies Reference Unit at Hospital Sant Joan de Déu, Barcelona. This patient-centered webinar, organised by RITA, is part of a new series led by Education WG Chair Jordi Anton, alongside Savino Sciascia and RITA patient groups. Discover insights into the latest research and clinical practices for managing rare immunological conditions.

Rare Disease Day 2025 webinar: Enhancing Accessibility in Physical and Digital Spaces
2024-09-18 14:00 - 15:30 (Europe/Helsinki)
Join on 18 September at 2 pm (CEST, UTC+2) for our Rare Disease Day Webinar, “Enhancing Accessibility in Physical and Digital Spaces.” Discover innovative strategies for making environments more inclusive for people with rare diseases, featuring insights from accessibility experts and patient advocates. Don’t miss this opportunity to engage in meaningful discussions with speakers Adéla Odrihocká (Czechia), James Buller (UK), and Andre Felix (Belgium) on how we can create a more accessible world together.
