Rare Disease Awareness: Exploring Research Progress

28th February 2025

Rare Disease Day occurs annually on the last day of February, calling us to think about the 300 million people worldwide living with one of over 6,000 rare diseases [1]. While individually rare, collectively, these conditions impact 1 in 17 people during their lifetime [2]. Despite these numbers, the challenges associated with diagnosing and treating rare diseases are significant, from limited awareness and research funding, through to delays in diagnosis.

Yet, encouragingly, progress is being made. We are seeing inspiring advancements in understanding, diagnosing, and treating rare diseases. In this blog, we explore some of the breakthroughs in science, healthcare innovation, and collaboration.

Supporting Research

Rare diseases, by definition, affect fewer than 1 in 2,000 people, making research and funding difficult to prioritise in a resource-limited environment. However, global initiatives like the International Rare Diseases Research Consortium (IRDiRC) and EURORDIS  are bringing together researchers, clinicians, and patients to accelerate discoveries. In the past year, the European Union’s Horizon Europe programme pledged €150 million in a €380 million partnership with the European Rare Disease Research Alliance (ERDERA)  to fund research projects tackling rare diseases [3]. Also, in the US, the FDA Orphan Drug Act continues to incentivise pharmaceutical companies to develop therapies, with over 600 orphan drugs approved since its inception [4].

A New Era of Personalised Medicine

One of the most exciting developments in rare disease treatment is the rise of personalised medicine, where therapies are tailored to individual genetic profiles. Advances in CRISPR gene-editing technology have demonstrated promise for conditions such as sickle cell disease and beta-thalassemia [5]. These groundbreaking therapies are designed to directly address underlying genetic mutations, offering hope for long-term cures.

Additional gene therapies are opening doors for treating rare genetic disorders. For example, in 2024, the FDA approved Elevidys (delandistrogene moxeparvovec-rokl), an adeno-associated virus vector-based recombinant gene therapy, for Duchenne muscular dystrophy. This represents a critical step forward for patients with limited treatment options [6].

AI Accelerating Diagnostics

The power of collective action is driving change. Rare Disease Day is a call to action for governments, researchers, clinicians, and individuals.

Here’s how you can get involved:

Raise Awareness: Use the hashtag #RareDiseaseDay to share facts, patient stories, and advocacy campaigns such as Rare Disease UK on social media to increase rare disease awareness.

Support Research: Donate to charities and organisations funding rare disease research, or participate in clinical trials if eligible.

Amplify Patient Voices: Encourage people living with a rare disease, their families and carers to take part in the worldwide Rare Barometer survey. Campaign for policymakers to prioritise rare disease research and healthcare equity.

Hope for the Future

As advancements in genetic medicine, AI diagnostics, and global collaborations continue to accelerate, the future for rare disease patients is increasingly promising. This Rare Disease Day, let’s spotlight the power of science, innovation, and unity in overcoming the challenges posed by rare diseases. Together, we can push for the research and policy changes needed to improve lives.

At Alto Marketing, we help life sciences and healthcare organisations amplify their message with audience-tailored content. For support achieving your communication goals contact our expert team today.

References

[1] “Rare Disease Day 2025.” Accessed: Jan. 24, 2025. [Online]. Available: https://www.rarediseaseday.org/

[2] “England Rare Diseases Action Plan 2024: main report – GOV.UK.” Accessed: Jan. 24, 2025. [Online]. Available: https://www.gov.uk/government/publications/england-rare-diseases-action-plan-2024/england-rare-diseases-action-plan-2024-main-report

[3] “ERDERA Partnership: a €380 million effort to transform rare disease research under Horizon Europe – European Commission.” Accessed: Jan. 24, 2025. [Online]. Available: https://research-and-innovation.ec.europa.eu/news/all-research-and-innovation-news/erdera-partnership-eu380-million-effort-transform-rare-disease-research-under-horizon-europe-2024-09-12_en

[4] M. Gabay, “The Orphan Drug Act: An Appropriate Approval Pathway for Treatments of Rare Diseases?,” Hosp Pharm, vol. 54, no. 5, p. 283, Oct. 2019, doi: 10.1177/0018578719867665.

[5] F. Greco, M. Cosentino, and F. Marino, “The Italian breakthrough in CRISPR trials for rare diseases: a focus on beta-thalassemia and sickle cell disease treatment,” Front Med (Lausanne), vol. 11, p. 1356578, Feb. 2024, doi: 10.3389/FMED.2024.1356578/BIBTEX.

[6] “FDA Expands Approval of Gene Therapy for Patients with Duchenne Muscular Dystrophy | FDA.” Accessed: Jan. 24, 2025. [Online]. Available: https://www.fda.gov/news-events/press-announcements/fda-expands-approval-gene-therapy-patients-duchenne-muscular-dystrophy

[7] A. Carrer, M. G. Romaniello, M. L. Calderara, M. Mariani, A. Biondi, and A. Selicorni, “Application of the Face2Gene tool in an Italian dysmorphological pediatric clinic: Retrospective validation and future perspectives,” Am J Med Genet A, vol. 194, no. 3, p. e63459, Mar. 2024, doi: 10.1002/AJMG.A.63459.

[8] B. Bhasuran et al., “Reducing diagnostic delays in acute hepatic porphyria using health records data and machine learning,” Journal of the American Medical Informatics Association, vol. 32, no. 1, pp. 63–70, Jan. 2025, doi: 10.1093/JAMIA/OCAE141.