Precision Medicine- Rogue Therapeutics Harvard 2016

Rare disease, genomics and patient-driven medicine may be terms that you have never heard of. All of these terms relate to precision medicine, medical treatments that are tailored to a specific patient.

These patients usually have some sort of rare disease, which is any disease that affects less than 200,000 people (in the United States). However, while the diseases themselves may be rare; having a rare disease is not rare. There are approximately 30 million people in the United States that suffer from a rare disease.

What is the purpose of precision medicine?

The goal of precision medicine is to develop treatments to alleviate rare diseases. The range of treatments available are quite limited because 80% of rare disease are genetic based. This means that while traditional medications could treat rare diseases, they will never permanently cure genetic disorders.

Undiagnosed Disease Network

Even though Precision Medicine as a discipline is still in its infant stages, there are many organizations that aim to make precision medicine available to every patient. One such organization is the Undiagnosed Disease Network (UDN). This is an initiative funded by the NIH to aid those with rare diseases to have a diagnosis. While only 50% of the current existing rare diseases have a foundation studying and supporting patients with that disease (let alone a cure or treatment for that disease), the UDN can help patients towards a diagnosis.

Karen, Ornella & Lysogene

Another example of an organization that supports rare diseases and have successfully produced one form of precision medicine (so far) is Lysogene. This company was founded by a mother, Karen Aiach, whose daughter, Ornella, was diagnosed with Sanfilippo Syndrome. At the time of diagnosis the doctors stated that the prognosis of Ornella was highly dysfunctional childhood development and an early death at the age of 20 (if not earlier).

“There will be no cure for 20 years, go home and enjoy the time left with your child.” — The doctors diagnosing Ornella

In spite of the doctors’ prognosis, Karen was determined to do something about her daughter’s health condition. She did research and talked to the right people and eventually brought a treatment for Sanfilippo Syndrome to clinical trials. Her daughter still lives, and has given hope to other patients with Sanfilippo Syndrome.

Unfortunately Karen and Ornella’s story is still rare when it comes to the rare disease community. There are thousands that die annually without any cure, or even any hope for a cure. This must change. As research progresses and discoveries about rare diseases are made, more cures will come. Karen, among others, are the pioneers of precision medicine. I hope for a time when all patients diagnosed with a rare disease will be as fortunate as Ornella.

You can read more about Karen and Ornella’s story here at labiotech.eu.

-Cole