Rarity to Relevance

In the current advanced era of cancer treatments and artificial intelligence, you might be wondering, “How have we not developed potential treatments for all diseases?” The first answer lies in the impact of rarity on diagnosis. Take for example CF, where a definitive diagnosis requires blood tests, genetic testing, and thorough clinical evaluation, all of which require labs to run samples, physicians with knowledge of the diseases, and technologists to analyse data.² Additionally, many rare diseases share overlapping symptoms, such as seizures and intellectual disability, leading to frequent misdiagnosis or missed diagnosis.¹ All of which can prevent patients from accessing crucial care opportunities. When it comes to targeted therapeutic development and improved diagnostics, small patient populations make data collection and the possibility of clinical trials particularly challenging.

Now that you have a broader understanding of what rare diseases are and the difficulties in studying them, you might ask, “What’s the benefit of researching rare diseases?” Acknowledging and studying rare diseases is essential because these conditions can have a multitude of symptoms, reduced quality of life, and, in some cases, death for some patients. The field of rare disease research has driven the development of many technologies and treatments now used for more common conditions. For instance, research into the modelling mutations in the rare disease Niemann-Pick disease, Type C1 has improved our understanding of the BRCA1 gene.⁴ The importance of studying rare diseases has been recognized by the creation of many charities and organizations such as Reverse Rett, the Bardet-Biedl Syndrome Foundation, and The Blu Genes Foundation.⁵ʼ⁶ʼ⁷ These organizations are often created by families affected by these conditions who recognize that there is a gap in the field when it comes to addressing certain rare diseases. The importance of research is also reflected by the FDA’s Orphan Drug Program which offers incentives such as tax credits, grants, and market exclusivity to encourage the development of treatments for rare diseases.¹ When researchers like me investigate rare diseases, we take unique and new approaches because often, so little is known. In our efforts to model diseases in laboratory settings for therapeutic development, we utilize cutting-edge genetic editing techniques to create patient-mimicking models. We often take a ‘kitchen sink’ approach to research, trying innovative gene editing methods to reverse mutations or screening thousands of FDA-approved drugs for potential repurposing. In a field that values the uniqueness of each condition, no idea is too small to attempt. I hope I’ve shown you that if one day you encounter the question, “If it’s so rare, why should I care?” you can offer a newly well-informed answer. While rare diseases like Joubert syndrome and Huskins’ syndrome affect a small portion of the population, it’s crucial to recognize the significant impacts they have on patient’s lives beyond mere statistics.