The phrase ‘rare disease’ to many medical students evokes the following response: “well, I don’t need to know about them for my exams.”

This view saddens me. Rare diseases are a group of conditions that have an enormous impact on those affected, and are thus no less important than common diseases. Although individually rare, in the USA, together they affect 1 in 10 individuals. This striking statistic shows we have a duty to develop a better understanding of these conditions. Investing time into rare diseases will enable us to alleviate the suffering of patients and increase our understanding, in turn, revealing fundamental truths about the human body and common disease.

I believe that paying particular attention to this group of conditions as a medical student creates a deeper understanding of the human condition and what it means to be a good doctor. Medical students are in a unique position, as at no other time in our careers will we be at the interface between all the following: A fresh understanding of science, seeing patients in a range of specialities, and opportunities for research. Similarly, researchers are in a powerful position to become involved in rare conditions, having the expertise to translate important research questions into answers.

How can more medical students become involved in rare conditions?

Firstly, many medical schools offer the opportunity for students to carry out an intercalated degree. I chose to study for a Bachelor’s degree in Genetics. Within this, I chose to write my dissertation on ‘Cell and Gene Therapy – the Future of Human Monogenic Disorders.’ This was a brilliant opportunity for me to read about the latest advances in gene editing to treat or even cure rare diseases.

Speaking to and examining patients with rare conditions has not only taught me about core topics in medicine, but about their personal experience.

Secondly, in routine clinical placements, I recommend all medical students look out for patients with rare diseases. Speaking to and examining patients with rare conditions has not only taught me about core topics in medicine, but about their personal experience. It has made me think about how I would best be able to support such patients when I become a doctor. For more medical students to become involved in rare conditions, my advice is to keep an eye out, as patients are right on our doorstep on the wards. To me it seems that ‘rare’ diseases are in fact not so rare.

Student-led societies are a powerful way in which medical students with an interest in rare diseases can become involved. I am Co-President of the ‘Students 4 Rare Diseases’ Committee at the University of Cambridge, in which we organise events with guest speakers (clinicians, scientists and patients). These events aim to increase awareness and inspire other students to become involved in rare disease.

How can more researchers become involved in rare conditions?

Rare disease research can cater to those interested in basic science. Studying the phenotype resulting from an abnormal gene provides insight into the role of that particular gene. I was able to appreciate the value of studying rare disease mutations to understand basic science when I carried out a project at Cambridge Institute for Medical Research, investigating the role of the JAK2 mutation found in myeloproliferative neoplasms.

Research into rare inherited forms of disease is fundamental to understanding their more common forms. I was able to appreciate this when I carried out a project in Prof Robert Semple’s research group studying mutations found in the insulin receptor that cause rare forms of diabetes. This summer I will be spending my medical elective at National Institutes of Health, in Dr Leslie Biesecker’s research group, studying rare genetic variants causing diabetes.

What challenges will medical students and researchers need to overcome to be successful?

Although there are opportunities for more medical students and researchers to become involved in rare diseases, these groups need to be made aware of these opportunities. As mentioned in the above, forming student rare disease societies is a good way to overcome this. These societies can make contact with rare disease charities, pharmaceutical companies, scientists and clinicians offering projects, and patients.

Although there are opportunities for more medical students and researchers to become involved in rare diseases, these groups need to be made aware of these opportunities.

It would also be worthwhile to create a list of clinical learning opportunities on rare diseases for medical students. Increasing awareness about events in the community such as the NIHR Rare Disease Day and Findacure Showcase Evenings enable medical students and researchers to network and discover more opportunities to become involved.

A relative lack of funding for research projects and therapeutics for orphan diseases means there are fewer opportunities to get involved in rare disease compared to common disease. However, if we play our part in becoming involved, the hope is that with further translational research, governments and pharmaceutical companies will begin to appreciate the importance of funding for rare disease.

In summary, there are opportunities for more medical students to become involved in rare diseases both within their course and through research projects. Although many opportunities exist, challenges include increasing awareness of such opportunities, as well as funding and scepticism. I believe that the more medical students and researchers that become involved, the less of a barrier these challenges will become.

Understanding rare disease will enable us to better help patients with such conditions, as well as patients with more common diseases. I sincerely hope for a future in which ‘rare diseases’ no longer connotes ‘less important’, but instead are given the respect and attention they deserve. The future lies in us.