Doctor Urges His Colleagues to Apply Lessons from COVID-19 to Rare Diseases


In a recent contribution to MSN, Dr. Christopher Austin, director of the NIH Advancing Translational Sciences, compared the medical community’s record-breaking approach to the COVID-19 pandemic with current efforts on behalf of rare disease patients.

Dr. Austin acknowledged that for the first time in his 30-year medical career people in the medical community are working on an international level to develop treatments that will save lives. There is no doubt that the COVID-19 pandemic has been influential in creating an atmosphere of dire need.

But then the doctor questions why, if we are capable of orchestrating such an efficient system, such a huge number of diseases still exist without available treatments?

An Overview of Rare Diseases

The average rare disease patient may take multiple tests and see a great many doctors over a three to fifteen-year period on average before receiving an accurate diagnosis.

It is estimated that one in every ten Americans has one of the seven thousand known rare diseases. However, less than five percent of these diseases have a specific treatment that has been approved by the FDA.

As Dr. Austin points out, no one is more in need than patients affected by rare diseases. He mentions that the discovery system needs to be overhauled and inefficiencies corrected.

Dr. Austin explains that the terminology used for observations to be turned into viable treatments is “translation.” He said that the translation process must be sped up in order to save lives.

The goal of the National Center that he directs is to develop technologies that resolve common inefficiencies that affect all diseases. This increases the speed of testing and product development for multiple diseases. The approach was used successfully in efforts to create drugs for COVID-19.

About Platform Vector Gene Therapy (PaVe-GT)

PaVe-GT has been designed to treat multiple diseases at the same time. This is a pilot program using one manufacturing and delivery system for many different rare diseases.

The goal is to streamline clinical testing and gene therapy development thus making them less costly and more readily available to rare disease patients.

Dr. Austin does not hide his enthusiasm when he describes the benefits of PaVe-GT. He explains that the same approach that allowed millions of people throughout the world to receive the COVID-19 vaccines can be applied to rare diseases.

The approaches include sharing open data and utilizing existing resources to accomplish a collective goal in the least amount of time.

The overall concept is to encourage NIH experts to coordinate their research and share the results, saving time and effort for similar projects.

Looking Forward

Dr. Austin urges the research community to capture the changes made in this new technological environment that responded to the COVID-19 pandemic so rapidly. He looks forward to the time when COVID-19 will no longer be a threat. He urges others in the medical community to put everything learned today towards helping thousands of others who urgently need treatment.

That is the lesson that can be learned from this deadly pandemic.

Rose Duesterwald

Rose Duesterwald

Rose became acquainted with Patient Worthy after her husband was diagnosed with Acute Myeloid Leukemia (AML) six years ago. During this period of partial remission, Rose researched investigational drugs to be prepared in the event of a relapse. Her husband died February 12, 2021 with a rare and unexplained occurrence of liver cancer possibly unrelated to AML.

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