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.

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.

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!

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

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.

Cavernous Malformation Canada - 2024 Patient Conference
2024-07-26 | SickKids Hospital Peter Gilgan Centre for Research and Learning, 170 Elizabeth St Toronto, ON M5G 1E8, Canada, Toronto, Ontario, Canada
This year our patient conference is ONE DAY ONLY, with optional activities happening Saturday.
Keynote by Dr. Brent Derry, many expert presentations, and lunch with the scientists, as well as time to mingle with other patients.

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

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.

21st BI-ANNUAL NATIONAL SCLERODERMA CONFERENCE
2024-08-29 08:00 - 2024-08-31 17:00 UTC | St John’s Conference Centre, St John's, Newfoundland, Canada
Held in beautiful St. John’s, NL, the 21st Bi-Annual National Scleroderma Conference offers an information-rich opportunity for people living with scleroderma, their caregivers, family members, friends, and medical professionals.
​Research updates, panel discussions, keynotes, workshops, and other educational sessions are led by leading scleroderma researchers, healthcare professionals and other industry leading professionals. Whether you are newly diagnosed or have had scleroderma for many years, the National Conference is a great way to learn about the disease and become connected with others that are dealing with scleroderma.

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.

13th Conference of Undiagnosed Diseases Network International
2024-09-05 08:00 - 2024-09-07 17:00 (Asia/Tokyo) | Seoul National University Children’s Hospital, Seoul, Korea, Republic of
This event will be held in Seoul, South Korea, and promises to be an enriching experience filled with insightful discussions and valuable networking opportunities.

C-Path 2024 Global Impact Conference
2024-09-09 08:00 - 2024-09-11 17:00 (America/Denver)
Attendees of the 3-day conference, including patients, providers, researchers, clinicians, biopharmaceutical companies, regulatory reviewers and scientists, will leave with knowledge of:

Accelerating drug development across neurology, rare diseases, pediatrics, and beyond.
Integrating insights across therapeutic areas to advance the process for novel treatments and cures.
The power of every precious data point in rare and orphan diseases.
Navigating novel therapies with novel evidence sources.
Innovative methods and approaches.
The value and impact that C-Path partnerships have on accelerating drug development.

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.

CANPKU+ 2024 ANNUAL GENERAL MEETING
2024-09-16 19:00 - 20:00 (America/New_York)
Please note only those who are current members will have the availability to vote at the upcoming AGM. Please check your profile to see if your membership is current.
Not current? Sign up to become a member or renew your membership at www.canpku.org/membership

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.

IPNA Webinar: Chronic kidney disease care in low resource settings: Can we make it a smooth ride for children?
2024-09-19 10:00 - 11:30 (America/Denver)
The webinar will discuss the challenges and barriers to optimal pediatric CKD care in low-resource settings and invite experts to discuss potential solutions to address the inequities in care. The webinar will discuss patient and family perspectives and the need for support.

Webinar - Clinical trials across the lifespan: Considerations for trials with pregnant people and children
2024-09-19 12:00 - 13:00 (America/New_York)
Webinar objectives:
1. Identify reasons why more clinical trials should include children and pregnant people
2. Describe additional considerations for designing, operating, and communicating about clinical trials with pregnant people and children
3. Discuss opportunities and challenges for considering clinical trials across the life span with IMPaCT and PregTrials

'Clinical neurophysiology in dystonia' by Anke Snijders
2024-09-24 19:00 - 20:00 (America/Chicago)
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).

Canadian Association of Genetic Counsellors 2024 Annual Education Conference
2024-09-25 08:00 - 2024-09-28 17:00 UTC

Week in RARE: RARE Advocacy Summit and Health Equity Forum
2024-09-25 08:00 - 2024-09-28 20:30 (Asia/Karachi) | Kansas City, Kansas City, MO, United States
Global Genes is on the move — Week in RARE is moving to Kansas City, Missouri in 2024. Week in RARE combines the RARE Health Equity Forum and RARE Advocacy Summit, in addition to the RARE Champions of Hope awards ceremony and annual membership meetings for Global Advocacy Alliance and RARE Corporate Alliance. This is a unique opportunity to gather and engage rare disease advocates and leaders in the same space for conversation.
Each year, Global Genes convenes one of the world’s largest gatherings of rare disease patients, caregivers, advocates, healthcare professionals, researchers, partners, and allies at the RARE Advocacy Summit to work together to build a path to hope. This is an unparalleled opportunity for advocates, whether new or veteran, to forge meaningful connections with others in the rare disease community for future collaboration. Sessions provide attendees, with insights about the latest in rare disease innovations, best practices for advocating on an individual and organizational level, and actionable strategies they can take home and implement immediately to improve care and accelerate change.
The RARE Health Equity Forum is the first one-of-a-kind event focused on the intersection of rare disease and health equity with an agenda built around creating systemic and organizational change. The conference was developed to better understand the persistent gaps that exist in the rare disease community for underrepresented and/or marginalized patient populations, including those who are still seeking a diagnosis or are unaffiliated with a disease-specific foundation.
This year, the Summit will be held in Kansas City, Missouri.

Turner syndrome and fertility options
2024-09-25 15:00 - 16:00 (America/Chicago)
Register now for a presentation by Professor Janielle van der Velden, paediatric endocrinologist, Radboudumc, Amalia Children’s Hospital, Nijmegen and expert in Turner syndrome.
Event chaired by MTG7 chair Hedi Claahsen, paediatric endocrinologist, Radboudumc, Amalia Children’s Hospital, Nijmegen
