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Rare Disease Research focus, non-research the story

3.1 from 24 votes
Sunday, March 09, 2014

March 5-8 marked the 2nd International RE(ACT) Congress, hosted at the Norvatis campus in Basel, Switzerland. It showcased some of the most cutting edge research around the world, but probably the most heroic story came from a non-researcher.

Novartis joined with the organizers of the event - The BLACKSWAN Foundation and the Gebert Ruef Stiftung - to gather the global rare disease community by encouraging discussion to better understand rare disease research. It was also held in honor of Rare Disease Day, which was celebrated February 28


RE(ACT) opened on March 5 with a talk from Joerg Reinhardt, Chairman of the Board of Novartis, David Lee, Head of the Autoimmunity, Transplant and Dermatology Translational Medicine Research Group at Novartis, Yan le Cam, President of EURORDIS and Stephen Groft, the former Head of the NIH’s Office for Rare Disease Research with moderation performed by Susan Gasser, CEO of the Friedrich Miescher Institute

Each emphasized the progress that has been made and how the number of researchers, companies and patient organizations that are involved with rare diseases is growing rapidly and that is due to the better regulatory laws the intend to help encourage companies to develop treatments for rare diseases, strengthened research frameworks in the US and EU, more organized patient organizations and lobby organizations such as EURORDIS and NORD, and more investment capital from the financial community.

The Future of Health

If there is one reason why the world should turn its attention to rare disease research is in no other disease area is there more cutting edge research techniques being used to find a way to treat these obscure and often complex diseases.

Four talks spotlighted the power of stem cells, which hold great promise for many rare diseases. Five talks demonstrated how gene therapy has already cured many people and is branching out to many other rare diseases.

The Star Trek Principle

Star Trek used to start its episodes with the line “…to boldly go where no man has gone before.” Lee emphasized this fact by noting, “As we come to understand a rare disease pathway, it not only gives us insight into the rare disease, but it also opens up an understanding of a wealth about other diseases.”

Despite this proven concept, rare disease research is underappreciated. Many bypass rare diseases, claiming they do not warrant the attention, because they only affect a very small amount of people individually. However, rare disease research uncovers knowledge about the human body that was not known before, and this knowledge helps researchers find better treatments for common diseases as well.

The Power of Love

Where much of the conference was dedicated to research, research funding, regulatory frameworks and clinical trials, a diamond in the rough was saved to the last day. Chairing the session and also giving the second talk of the day was Nick Sireau, Chairman and CEO of the AKU Society.

But beyond the titles of chairman of president lies a title much more empowering, namely father. Sireau is the father of two children with a very rare disease called alkaptonuria, also known as Black Bone Disease. The disease arises when the DNA that codes for a specific enzyme is mutated. This leads to a condition, in which people cannot fully break down a toxic acid called homogentisic acid, or HGA.

Although some HGA is eliminated in urine, a large amount builds up in the body. This accumulates at 2,000 times the normal rate, leading to severely debilitating health problems. Black urine is a common symptom of AKU and is often used as a diagnostic tool.

Many have to search for a reason to get out of bed each morning. In contrast Sireau cannot find enough hours in the day to quench his passion – find a treatment for his children. If money motivates, love knows no boundaries and that is quite descriptive of Sireau’s path.

In a span of four years, Sireau has been able to assemble a passionate team of volunteers that have successfully worked with a pharmaceutical company called SOBI to obtain the right to develop a product for alkaptonuria, united alkaptonuria patient organizations, improved patient registries, received an EU grant to start clinical trials and organized a host of hospitals, where the studies for the clinical trials will take place.

Sireau proudly announced, “In November 2012, we launched a major five-year program of international clinical trials for a promising new treatment called Nitisinone as part of an EC-funded consortium.”

Normally all this is done by a host of employees from a pharmaceutical company and outsourced teams and agencies by. However, Sireau emphasized, “Our clinical trial is a concerted effort of physicians, researchers and passionate advocate and volunteers.”


Sireau’s story is what movies and novels are based on, similar to those who went before him such as John Crowley, whose efforts produced a treatment for two of his children who live with a rare disease known as Pompe disease. Or Augusto and Michaela Odone, who found a treatment for their son who suffered from a very rare disease known as adrenoleukodystorphy.

All of these individuals share the fact that none had research training or expertise in drug development. Yet Crowley and Odone were able to find treatments and Sireau is on his way.

Robert Browning drove an inspirational point home, when he noted, “Without love, our earth is a tomb.” A salute to the passion and drive of individuals such as Sireau, whose perseverance and selflessness are making the future one where many will live longer and healthier.

Author: Robert Derham
Source: CheckOrphan
3.1 from 24 votes
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