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.

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.

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!

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.

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.

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.

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.

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.

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.

31st European Paediatric Rheumatology
2024-09-11 08:00 - 2024-09-14 17:00 (Europe/Paris) | Sweden, Gothenburg, Sweden
As always at PReS meetings, the invited faculty represents internationally renowned clinicians and scientists who will present and discuss significant and exciting developments in pathophysiology, diagnostics, and clinical management of pediatric rheumatology. In the program they will recognize some of the favorites over the year: Grand debates and Thieves market. Added to that many outstanding presentations with varying themes. Also, of course, as tradition is, they will find Young Investigators Meeting and EULAR Pediatric Ultrasound Course.

Global Alliance for Genomics and Health - 12th Plenary
2024-09-16 08:00 - 2024-09-20 17:00 (Australia/Melbourne) | Park Hyatt Melbourne, Melbourne, Australia
GA4GH 12th Plenary brings together organisations and initiatives from the genomics and health community for keynotes, talks, and workshops. The conference will focus on genomic and clinical data sharing issues that pervade diverse industries, disciplines, and communities.

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.

North American Cystic Fibrosis Conference
2024-09-26 08:00 - 2024-09-28 17:00 (America/Halifax) | Boston Convention and Exhibition Center, Boston, MA, United States
NACFC provides a collaborative and educational forum for all CF professionals. The educational elements of the meeting program are targeted to physicians, nurses, research scientists, respiratory therapists, physical therapists, nutritionists, social workers, and pharmacists.
This annual meeting brings together scientists, clinicians, and caregivers from around the world to discuss and share ideas on the latest advances in CF research, care, and drug development and to exchange ideas about ways to improve the health and quality of life for people with CF.

2024 Global CMT Research Convention
2024-09-26 08:00 - 2024-09-28 17:00 (America/New_York) | Cambridge, Cambridge, MA, United States
The CMT Research Foundation unites the voices of patients, researchers, pharma companies, and regulatory agencies to develop treatments for CMT.
This event takes place over three days. Thursday and Friday are scientific meetings meant for researchers and scientists working in CMT. Saturday is primarily for patients and their families and caregivers, providing a chance to interact with the research community that is working so hard on their behalf and to better understand the latest in research progress.

🔵26èmes Journées Françaises de l’Epilepsie
2024-10-08 08:00 - 2024-10-11 17:00 (Europe/Helsinki)

International Conference on Newborn Screening 2024
2024-10-09 - 2024-10-10
The 2024 meeting of the International Consortium on Newborn Sequencing (ICoNS) will be held in New York City, USA on October 9 – 10, 2024.
ICoNS is the premier event for connecting with top experts and gaining insights into the frontier of newborn sequencing as screening for ushering in the era of preventive medicine.

21st Biennial ESID Meeting
2024-10-16 08:00 - 2024-10-19 17:00 (Europe/Paris) | france, Marseille, France
The ESID 2024 meeting in Marseille will cover the latest most exciting discoveries in basic and clinical science covering our expanding field, bringing together internationally renowned scientists and clinicians to present and discuss major and exciting developments in diagnosis, clinical management, genetics, immunobiology of inborn errors of immunity, through keynote lectures, symposia, educational workshops, interactive sessions, poster presentations, and meet-the-expert sessions.

EPNS Research Meeting 2024
2024-10-17 08:00 - 2024-10-18 17:00 (Europe/Helsinki)
The EPNS has been organising Research Meetings since 2008. With an aim to enhance research in Paediatric Neurology, the meeting brings together leaders in the field, active researchers and young fellows who are interested to join or to set up research projects. It is a forum for researchers in Paediatric Neurology, where they present their work, ideas, results, creating the possibility for good interaction between researchers and premises for networking, future collaborative research in Europe and beyond. Experienced professionals and young researchers get together, in an environment where interactive, vivid discussions can take place around the presented topics.

DIFFERENT FACES OF RARE AND COMPLEX EPILEPSIES
2024-10-17 08:00 - 2024-10-19 17:00 (Europe/Helsinki)

World Orphan Drug Congress 2024
2024-10-22 10:00 - 2024-10-25 18:00 (Europe/Helsinki) | Fira de Barcelona Montjuic, Barcelona, Spain
The World Orphan Drug Congress is the largest, most established European meeting dedicated to orphan drugs. This year the conference will take place in Barcelona, Spain.
From cell & gene therapy, genetic testing, market access to real world evidence, this one meeting covers the whole orphan drugs value chain where science, government and manufacturers all come together to create groundbreaking progress.

Developing Therapies in Rare Neuromuscular Disease
2024-10-31
The symposium is designed for industry professionals involved in developing treatments for rare neuromuscular diseases and offers a unique opportunity to learn from past mistakes, engage with leading experts, and gain valuable insights into the challenges and opportunities within the field. Attendees can expect interactive sessions and opportunities to pose questions to the speakers, fostering meaningful dialogue and knowledge exchange.

Global Congress of the GANSID: November 8-9, 2024
2024-11-08 08:00 - 2024-11-09 17:00 UTC
GANSID Congress 2024 is the 2nd Congress of the Global Action Network for Sickle Cell & Other Inherited Blood Disorders (GANSID) taking place virtually to ensure all clinicians, people with hereditary blood disorders, and global advocates can participate from any part of the world.

2024 International Congress for Ataxia Research
2024-11-12 08:00 - 2024-11-15 17:00 UTC
Today marks the opening of the largest-ever scientific conference on ataxia research — the International Congress for Ataxia Research (ICAR) is welcoming a record-setting 600 attendees. The London-based conference runs through to November 15 and will be a comprehensive scientific review of new research into the ataxias, covering topics from advances in genetics and disease mechanisms to therapeutics approaches, as well as a debate on emerging ataxia research topics. ICAR represents a strong collaboration between global advocacy organizations focused on advancing research for ataxia, including co-hosts Ataxia UK, Friedreich’s Ataxia Research Alliance (FARA), National Ataxia Foundation (NAF), and Ataxia Global Initiative (AGI).

Rare Disease Day 2025 webinar: Healthcare professionals
2024-11-13 18:00 - 19:00 (America/Chicago)

'DBS in Dystonia - the network perspective' by Juho Joutsa
2024-11-14 16:00 - 17:00 (Europe/Paris)
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).
