European Society of Human Genetics Conference
2025-05-24 08:00 - 2025-05-27 17:00 (Europe/Vienna)

Advancing Innovation in Rare Disease Research
2025-06-02 08:00 - 2025-06-03 17:00 (America/Vancouver)
Join researchers, clinicians, and industry leaders to discuss real-world research breakthroughs, novel #ClinicalTrial designs, and how NORD’s Rare Disease Centers of Excellence are leading collaborative efforts in #RareDisease innovation.

Superficial Siderosis Symposium 2025
2025-06-11 08:00 - 2025-06-13 17:00 (America/Halifax)
Join the Superficial Siderosis Research Alliance (SSRA) for a three-day symposium dedicated to patients, caregivers, clinicians, and researchers focused on advancing care, treatment, and research for superficial siderosis.

Community Conversation: The Living Rare Study
2025-06-12 16:00 - 17:00 (America/Edmonton)
Join NORD on Thursday, June 12 at 4 p.m. ET for a virtual conversation about the #LivingRareStudy. This session will guide you through joining the first large-scale study in the U.S. focused on tracking the real-life experiences of individuals and caregivers impacted by #RareDiseases, including how to create an #IAMRARE account, review the consent form, and navigate the platform.

FSHD Connect Europe patient meeting 2025​​​​​​​​​​​​​​​​​
2025-06-13 08:00 - 2025-06-15 17:00 (Atlantic/Azores)
FSHD Europe will organize, in collaboration with the FSHD Society, the first FSHD Connect Europe meeting on June 13th – June 15th, 2025, in Amsterdam, The Netherlands. This is a networking meeting for FSHD patients and their families. It is a great opportunity to connect with other patients and families across Europe.

The Cambridge Rare Disease Showcase
2025-06-18 18:30 - 21:00 (Europe/London)
This annual event celebrates the innovative work and powerful stories emerging from the rare disease community – uniting patient groups, researchers, clinicians, industry professionals, and more from across the UK and beyond.

Mito Med 2025 Masterclass on Primary Mitochondrial Myopathy with a Focus on TK2d
2025-06-21 08:00 - 17:00 (America/Kentucky/Louisville)
New this year for Clinical-Scientific Attendees to UMDF’s #MitoMed Conference — a Masterclass on Primary Mitochondrial Myopathy (#PMM) with a Focus on #TK2d. Tracks for Early Career Investigators and for Up-and-Coming Clinicians.

THE FESTIVAL OF GENOMICS & BIODATA Boston
2025-06-24 08:00 - 2025-06-25 17:00 (America/New_York)
The Festival is designed principally for scientists and clinicians who are working in the fields of genomics, other omics, and/or using biodata , to further research, drug discovery, healthcare and – ultimately – deliver better patient outcomes.

Topics covered include genomics, single cell/spatial biology, multiomics, biodata, cancer research, drug discovery, AI, microbiome, proteomics, liquid biopsy and so much more.

United in Hope: 2025 Global Prader-Willi Syndrome Conference
2025-06-24 08:00 - 2025-06-28 17:00 (America/Denver)

The 2025 CRF International Conference
2025-06-25 08:00 - 2025-06-28 17:00 (America/Detroit)
The Choroideremia Research Foundation (CRF) cordially invites you to join them June 25 – 28, 2025, for their International Conference at the Radisson Blu Mall of America in Bloomington, MN. This event seeks to improve the quality of life for all those impacted by choroideremia (CHM) through educational programming, interactive engagement and networking.

Living Rare, Living Stronger
2025-06-27 08:00 - 17:00 (Atlantic/South_Georgia)

2nd Global Cell & Gene Therapy Summit
2025-07-07 08:00 - 2025-07-09 17:00 (America/New_York)

Summer School on Genome Stability 2025 Montpellier
2025-07-15 08:00 - 2025-07-17 17:00 (Atlantic/Azores)
This Summer school is designed to provide students and postdocs with up-to-date knowledge in the field of Genome Stability.
This will be provided from July 15th to 17th through lectures by ten experts in the field, oral presentations by participants as well as round table discussions. Emphasis will be on promoting interactions and discussions between participants and experts. July 18th will be a symposium day, similar to an international conference, with short presentations from the invited speakers and poster presentations by the participants. On the morning of July 19th, there will be direct interactions between participants and research teams in Genome Stability from IGH (https://www.igh.cnrs.fr/en/) and IGMM (https://www.igmm.cnrs.fr/en/), two research institutes in Montpellier.

Rare Disease Day 2026 - Concept Introduction
2025-07-21 07:00 - 08:00 (America/Edmonton)
Company representatives and Rare Disease Day National Partners are warmly invited to this introductory session unveiling the vision for the 2026 campaign.

The 16th International CHARGE Syndrome Conference, “The Grand Adventure,”
2025-07-24 08:00 - 2025-07-27 17:00 (America/Denver)

Platelet Disorder Support Association (PDSA)-Immune Thrombocytopenia Conference 2025
2025-07-25 08:00 - 2025-07-27 17:00 (America/Edmonton)
This year, PDSA will host its 25th annual update on immune thrombocytopenia (ITP) for patients, caregivers and the medical community in Philadelphia, PA July 25-27. This year’s patient conference will take place at The Logan, Philadelphia, in the Center City District.

PxP Africa 2025: Virtual Meeting August 13, 2025 From Research Participants to Patient Partners in Research: Centering African Patients Voices
2025-08-13 18:00 - 20:00 (America/Edmonton)
PxP Africa is the first regional PxP meeting, led by Joab Wako and Kwanele Asante who are members of the 2025 steering committee for the global PxP conference taking place in September. PxP Africa will spotlight the critical role of patient partners—especially African patients—as active contributors in research, not just research participants. The session will challenge the traditional top-down model of research and explore how lived experience can inform, shape, and lead meaningful, inclusive studies.

PxP Australia 2025
2025-08-19 08:00 - 09:00 (America/Edmonton)
PxP Australia is a regional webinar, led by Letisha Living and Janelle Bowden who are members of the 2025 steering committee for the global PxP conference taking place in September. The theme of PxP Australia is “working well together” and Dr. Joan Carlini will be joining the session as a speaker.

Webinar: Patient Partnership 2025 – The Lupus100 Project
2025-08-27 00:00 (America/Edmonton)
Co-developed by ERN ReCONNET and LUPUS EUROPE, The Lupus100 Project is a multilingual resource based on real patient questions about lupus, turning a national patient booklet into a Europe-wide, medically validated information tool. Speakers Eric Hachulla (clinician, ERN ReCONNET), Jeanette Andersen (patient representative, ERN ReCONNET), and Zoe Karakikla-Mitsakou (General Secretary, Lupus Europe) will share how meaningful collaboration between patients and clinicians shaped this impactful communication initiative!

WHA Resolution Coalition Webinar: Turning the WHA Resolution on Rare Diseases into Action
2025-08-28 06:00 - 07:30 (America/Edmonton)
This Coalition webinar will further discuss the formalization of the Coalition as well as the updates and next steps in the implementation of the WHA Resolution on Rare Diseases and the development of the Global Action Plan.

2025 RARE Drug Development Symposium
2025-09-03 08:00 - 2025-09-04 17:00 (America/Denver)
Rare disease patient advocates are taking the lead in research like never before, driven by the urgent need for new treatments. The RARE Drug Development Symposium hosted by Global Genes in partnership with Boston Children’s Hospital is designed to equip advocates with the knowledge, skills, and connections to navigate early-stage research with confidence. During this 1.5 day event, attendees will have a mix of main stage sessions, targeted breakouts, group presentations, and hands-on workshopping. Whether you’re initiating research efforts or looking to refine your strategy, this symposium offers practical insights to accelerate progress in research strategies and activities.

6th International Hypothalamic Hamartoma Symposium
2025-09-04 08:00 - 2025-09-05 17:00 (America/Belize)
Presented by Hope for HH and Hospital Sant Joan de Déu Barcelona, this symposium will gather leading experts, patients, and caregivers from around the world to share the latest research, clinical advances, and treatment strategies for Hypothalamic Hamartoma (HH)! Alexis Arzimanoglou and Helen Cross are part of the Symposium Committee.

Rare Trials Summit
2025-09-09 08:00 - 2025-09-10 17:00 (America/Edmonton)
Bringing together key stakeholders in the clinical research community to accelerate the development of new rare disease therapies from average 10-12 years to under 3 years.

Manchester Dysmorphology and Developmental Disorders Conference
2025-09-16 08:00 - 2025-09-19 17:00 (Europe/London)
The Manchester Dysmorphology Conference (MDC) is a biennial event that has brought together global experts in genomic syndromology since 1984. Established by Professor Dian Donnai, MDC promotes the exchange of knowledge and ideas to advance the understanding of developmental disorders and congenital malformations. Each conference offers leading-edge content and a supportive setting, encouraging discussions, building collaborations, and inspiring innovative strategies to improve the lives of individuals living with rare conditions.

EURORDIS Webinar: Patient Partnership 2025 – The Lupus100 Project
2025-09-18 18:00 - 19:00 (America/Edmonton)
The Lupus100 Project, recognized as a winner of the 2025 Patient Partnership Good Practice Challenge, highlights the crucial role of patient partnership in improving communication about rare diseases such as lupus.

Undiagnosed Hackathon 2025
2025-09-21 08:00 - 2025-09-24 17:00 (America/Chicago)
350 million people live with an undiagnosed disease worldwide. Genome sequencing can provide answers for 40% of the People Living With Undiagnosed Disease (PLWUD) but around 60% still don’t receive a diagnosis. The purpose of the Undiagnosed Hackathon is trying to find new ways and collaborations to solve the undiagnosed diseases, that can’t be solved today. In this unique event multidisciplinary teams of clinicians, bioinformaticians/molecular biologists, scientists, developers, AI specialists and brilliant minds will work together to tackle the most difficult diseases.

Advancing Rare Disease Healthcare: Spotlighting the Economic and Health System Burden of Disease
2025-09-23 09:30 - 11:30 (America/Edmonton)
Please join this 1.5-hour live virtual meeting to hear esteemed faculty describe the global economic impact of rare diseases on patients and healthcare systems. Expert community advocates will also share their practical experience of advancing patients’ needs with key stakeholders. Panel discussion and audience questions will consider how to have meaningful impact in your country or region with patient healthcare experience data and insights to drive change in practice and better health outcomes for people living with rare disease. The live virtual meeting is further supplemented with published studies and content.

Biennial National Conference
2025-09-26 08:00 - 2025-09-28 17:00 (America/Edmonton)
Registration information coming soon.

Global Alliance for Genomics and Health (GA4GH) 13th Plenary
2025-10-06 08:00 - 2025-10-10 17:00 (Europe/Paris)
GA4GH 13th Plenary will bring together the global genomics and health community for workshops, presentations, and keynote talks that uncover opportunities to scale genomic and clinical data sharing.

30th Annual International Congress of the World Muscle Society
2025-10-07 08:00 - 2025-10-11 17:00 (Europe/Vienna)
The World Muscle Society is a dynamic community that aims to promote, disseminate, and share all aspects of neuromuscular physiology and diseases, from basic science to patient care. It encompasses a broad range of scientists and healthcare professionals who share the common interest for neuromuscular disorders.
