The benefits of working with rare disease families and charities

Dr Mohammad Al-Ubaydli

Patients Know Best

Dr Mohammad Al-Ubaydli of Patients Know Best highlights how rare disease families and charities have a lot to offer the pharmaceutical industry.

Working with rare disease families and charities provides a great opportunity for the pharmaceutical industry. By researching rare diseases, they can develop treatments for more common conditions – and dramatically cut their costs.

Familial Hypercholesterolaemia (FH) is a rare inherited condition, which means that the patient has unusually high levels of cholesterol in their bloodstream. FH is caused by a defect in a gene that controls the way the body handles cholesterol. Whilst numbers of people with this condition are thankfully very small, the drug eventually developed to treat it – a statin – is now one of the most widely used medicines to treat heart conditions in the world. By trying to find a drug to treat a rare condition, researchers uncovered a way to solve a far more common problem. So how did this happen?

Certain types of rare diseases are said to be ‘fundamental diseases’, so called because they are fundamental to understanding how other, more common diseases, develop and how they might be prevented or treated. The theory is that once we understand these diseases, then the door is opened to understanding a range of less rare conditions. A new book, Rare Diseases: Challenges and Opportunities for Social Entrepreneurs, looks closely at this topic of fundamental diseases.

Research into common diseases is often time consuming, complicated and expensive because scientists must study multiple genes and environmental factors. However, rare disease research is often much smaller-scale as just one gene is responsible for the extreme condition. Once one gene has been tracked down then it makes tracking down all the other associated genes for the more common condition cheaper and faster.


“By trying to find a drug to treat a rare condition, researchers uncovered a way to solve a far more common problem.”


For example, Alkaptonuria (AKU), the ?rst genetic disease ever identi?ed, is a chemical model of osteoarthritis, a very common disease and one for which there is no cure. The latest research into AKU is already revealing new insights into the causes of osteoarthritis, which could lead to the development of new treatments.

I believe that by focusing on these fundamental diseases, researchers can unlock new insights and discover new treatments for conditions from which many more people suffer. I also believe that for pharmaceutical companies there is a very real benefit in working with rare disease charities, patient groups or organisations like Find-A-Cure, which link up with research communities. They are the ones with the knowledge of how rare diseases impact patients and they are the ones who can provide access to the data that businesses need to direct their research.

For example, The Barth Syndrome Trust is a charity advancing the treatment of Barth Syndrome, a rare disease that affects boys. Its ambition is to find a cure for the disease, so it is linking together patients, families and professionals to build a database of knowledge around the disease and its treatment. The database will in time provide a comprehensive overview of how patients live with Barth Syndrome and respond to treatment. To further advance their work, the charity hopes to link up with similar organisations overseas to develop an international database: an invaluable resource for any clinician treating a Barth Syndrome patient and for any pharmaceutical company wishing to focus its research in this area.


“I believe that by focusing on these fundamental diseases, researchers can unlock new insights and discover new treatments for conditions from which many more people suffer.”


Not only can these charities help find cures tomorrow, they can improve patient care today. The Rare Genomics Institute (RGI), based at Washington University in the USA, is the brainchild of TED Fellow Dr Jimmy Lin. The RGI offers a clinical community dedicated to helping rare disease patients find cures for their conditions. Working alongside patients and their families, the RGI provides the necessary tools, knowledge, and connections so a patient can better understand the cause of their disease. They also advise a patient’s local providers on treatment and the management of the patient’s condition. One of the largest costs for any research company is identifying which patients need what treatment and teaching how each drug should be used. So working with patient groups and charities like RGI – who could potentially do this work for them – could collapse these costs.

Pharmaceutical companies working together with patients and rare disease charities could not only find treatments to rare and common conditions alike but they could structurally transform the cost of research and care and break into far larger markets.

This is an urgent opportunity for the pharmaceutical industry – and as patients and citizens, we all need them to move ahead.




About the author:

Dr Mohammad Al-Ubaydli is founder and CEO of Patients Know Best, the world’s first patient-controlled medical records system. He has over 15 years of experience in medical software and is trained as a physician at the University of Cambridge. He has worked as a staff scientist at the National Institutes of Health and was a management consultant to US hospitals at The Advisory Board Company. He is the author of seven books on IT and healthcare including Personal health records: A guide for clinicians and Streamlining Hospital-Patient Communication: Developing High Impact Patient Portals. He is an honorary senior research associate at UCL medical school for his research on patient-controlled medical records. In 2012 he was elected an Ashoka Fellow as a social entrepreneur for the contributions he has made to patient care.

What are the benefits of working with rare disease families and charities?