Bloom Syndrome Association and NORD® Launch Natural History Study of Bloom Syndrome

Research study is open to participants worldwide to advance understanding of this ultra-rare cancer predisposition disorder and support future care guidelines, research, and treatment development

SAN DIEGO, July 31, 2026 /PRNewswire/ -- Today, the Bloom Syndrome Association (BSA) and the National Organization for Rare Disorders (NORD) launched a study with global reach to research Bloom syndrome, an ultra-rare genetic condition associated with small stature, sun-sensitive skin changes, immune and gastrointestinal complications, diabetes risk, and a greatly increased risk of developing many types of cancer, often at young ages. Bloom syndrome currently has no cure and no approved disease-modifying therapies.

The new study, the International Bloom Syndrome Registry (IBSR), creates a platform for patients around the world to share information about Bloom syndrome and related disorders. Its purpose is to build an international resource that can be used by researchers, clinicians, and future therapy developers.

Because Bloom syndrome is so rare, its true incidence and prevalence are not known. Individuals and families are dispersed across many countries, and information about diagnosis, cancer history, clinical care, and long-term outcomes has historically been limited and fragmented. By bringing patient- and caregiver-reported information together in one international registry, the IBSR is designed to help create a clearer picture of how Bloom syndrome affects people over time and what patients and families need most.

"For a condition as rare as Bloom syndrome, every patient's experience matters," said Mary Beth Campbell, Co-Chair of the BSA Research Council and mom to a 12-year-old with Bloom syndrome. "The IBSR gives families a way to turn what they have learned through lived experience into data that can guide researchers, inform care, and help build the foundation for future treatments. Because our community is small and spread across the world, participation is what will make this registry powerful."

To help drive awareness and participation, the Bloom Syndrome Association will launch the IBSR in connection with the 2026 Blossoming Hope Conference, taking place July 31–August 2, 2026, in Los Angeles. This gathering of patients, families, clinicians, researchers, and advocates will provide an important opportunity to introduce the registry, answer community questions, and explain how patient and caregiver participation can help build the data needed to improve care and accelerate research for Bloom syndrome. Following the conference, BSA will continue its outreach through its website, email updates, social media channels, webinars, and trusted community ambassadors to encourage eligible individuals and families worldwide to learn more and participate.

"The success of the registry is dependent upon community participation. Our goal is to enroll as many patients, or their parents or legal guardians, as possible," said Campbell.

The IBSR is a natural history study that consists of electronic surveys to collect information about the patient experience and disease progression. Patients, or their caregivers or guardians, can enter information from anywhere in the world. The data is confidential and stored securely in the IAMRARE online portal. The BSA may share the data with individuals or institutions conducting research or clinical trials, as approved by the study's governing board that includes scientists, doctors and patient advocates.

At launch, participants or their representatives may complete online surveys and will have the option to upload relevant medical records, genetic test reports, laboratory reports, imaging reports, pathology reports, and other health information. In future phases, and only after any required IRB review and approval, the IBSR may add additional optional features, such as clinician-entered data, electronic health record data capture, expanded language translations, and genetic or genomic data collection.

The BSA is launching the study in collaboration with NORD, an independent nonprofit that built its natural history study platform as part of its mission to help identify and treat all 7,000 rare diseases. The BSA is a member of NORD and the two organizations work together to eliminate the challenges that rare disease patients face.

"NORD is delighted to see the launch of this new important natural history study. This innovative and critical research could not come at a better time for members of the Bloom syndrome community to help drive progress. Together with NORD, this new research endeavor can elevate the critical voices and stories of patients, families and members of the rare disease community," said Janine Lewis, Director of Research Operations, NORD.

For more information, visit bloomsyndromeregistry.org

About the Bloom Syndrome Association 
The Bloom Syndrome Association (BSA) is a nonprofit organization dedicated to supporting individuals and families affected by Bloom syndrome, wherever they live. The BSA's mission is to connect, educate, and support the international Bloom syndrome community and stimulate research that leads to longer, healthier lives. Through patient and family resources, educational programs, community-building efforts, clinical and research initiatives, and partnerships with scientists, clinicians, and advocates around the world, the BSA works to ensure that families facing this ultra-rare condition are not alone and that their experiences help shape better care and future treatments. Visit bloomsyndromeassociation.org.

About National Organization for Rare Disorders, Inc. (NORD^®)

The National Organization for Rare Disorders (NORD) is the leading independent advocacy organization representing all patients and families affected by rare diseases in the United States. NORD began as a small group of patient advocates that formed a coalition to unify and mobilize support to pass the Orphan Drug Act of 1983. Since then, the organization has led the way in voicing the needs of the rare disease community, driving supportive policies, furthering education, advancing medical research, and providing patient and family services for those who need them most. Together with over 300 disease-specific member organizations, more than 15,000 Rare Action Network advocates across all 50 states, and national and global partners, NORD delivers on its mission to improve the lives of those impacted by rare diseases. Visit rarediseases.org.

Media Contacts:

Bloom Syndrome Association, [email protected]

NORD Marketing, [email protected] 

SOURCE Bloom Syndrome Association