Moira Gunn, PhD: Role of Primary Care in Rare Disease


Moira Gunn, PhD, professor of bioentrepreneurship at the University of San Francisco, discusses why it is important for primary care providers to keep up-to-date on rare disease developments.

With rare diseases impacting small patient populations and often manifesting in unique ways with every patient, it is nearly impossible for a single physician to stay up to date with the latest research on all 7000.

This task becomes even more difficult for a physician attempting to do so in a primary care setting, yet the importance and expertise of primary care providers is not forgotten at meetings like the 2019 National Organization for Rare Diseases (NORD) and Orphan Products Breakthrough Summit.

Even though most in a primary care setting may not treat a patient with a rare disease, their perspective on expertise are invaluable to the field, according to Moira Gunn, PhD, professor of bioentrepreneurship at the University of San Francisco.

Before taking part in a panel discussion on the diagnosis and treatment of rare diseases, Gunn sat down with MD Magazine® to give her perspective on the importance of primary care providers staying informed of advances in rare diseases.

MD Mag: Why is it important for primary care providers to keep abreast of advances in rare disease?

Gunn: Well it’s obvious that someone may walk in their office and may have one of these conditions or know that it effects an entire family. They could be treating one of the healthy children in the family and then the person with the rare disorder may in fact not be under their care but the whole family is a part of the treatment. I think also, many times we're seeing in rare disorders not devastating symptoms but minor symptoms. This informs anyone looking at treating children that there may be a slight genetic challenge here.

Devastating disorders—we can go after those, we can recognize them, but it's the minor ones that may take a toll on a child and may take a toll on an adult to say you know what i think might be going on here. Beginning to incorporate genetics and what we understand about genetics into practice—that's new. That didn't go on when they went to medical school and it can go on now. Their own personal experience of seeing more and more people over the course of their career represents a tremendous body of intelligence that I can think can be brought to bear on everyone in humanity.

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