Rare diseases by definition only affect a small number of people, but rare disease studies can reveal valuable information for more common ailments. The Orphan Drug Act has done wonders promoting greater research and many new initiatives have spawned since then, including our own Rare Disease Science Challenge. Let’s take quick look at how the rare is benefiting the common.

Genetic Disorders Reveal Metabolic Pathways

Leptin from rare disease


Studying monogenic rare disease allowed for greater insight in the role of leptin and obesity.
Image courtesy of I, Vossman

Obesity, hypertension, or weak immune system are common issues dealt with by the public, and as it happens, occurs rarely due to monogenic (single gene variation) syndromes. A mutation for the production of leptin, a hormone, has allowed for research into how leptin impacts obesity and fat tissue. “Findings in extremely rare forms of obesity, often represented by only a handful of children or families have thus highlighted critical pathways for the control of human fat tissue and its normal metabolism.”[1]

Similar studies have also helped identify molecules that elevate blood pressure. Looking into 20 monogenic disorders related to hypertension have found molecules that interfere with “the normal function of the critical molecules involved in the regulation of salt balance of the body by the kidneys.” Understanding the molecular causes of these common problems allows for more effective and targeted treatments.

Therapeutic Approaches Can Apply for Common Diseases

Rare disease not only offers insight to pathways, but also in how to treat diseases. The treatment of SCID (severe combined immunodeficiency-X1) trail-blazed the use of gene therapy as a therapeutic option, as gene therapy offered better results than older treatments. The low number of treatment options means that cutting edge approaches are undertaken to tackle rare disease. SCID studies “represent a major breakthrough in modern medicine insofar as a novel therapeutic tool (gene therapy)” and have “led to the development of a new drug…that is now used to treat more common diseases, including certain leukemias and lymphomas.[2]

There is clear value in supporting rare disease research and monitoring ongoing clinical trials – there is the possibility of learning more about how diseases work or applying novel treatments to the ailments of the general populace. We are proud of supporting the Rare Disease Science Challenge and supporting a number of researchers advance their projects.

References

  1. Lessons from studying monogenic disease for common disease
  2. A journey of hope: lessons learned from studies on rare diseases and orphan drugs