According to a story from Cosmos Magazine, Dr. Kathryn North is committed to researching the vast expanse of the human genome in order to pinpoint the ways in which genes and mutations are responsible for causing rare disease. She is the director of the Murdoch Children’s Research Institute, which is the largest organization in Australia that is dedicated to researching childhood illnesses. Nearly half of rare disease patients in the world are children.

Kathryn has been doing genetic research for a long time, and made a major discovery in 1999 when she isolated a variant of the ACTN3 gene that was linked to the development of the exceptional fast twitch muscle groups that grant exceptional speed and power to the world’s fastest sprinters.

As a part of her goals, she is also spearheading the collaborative Australian Genomics project. This project involves 70 institutions from across the country that are committed to integrated precision medicine practices into the medical system. Precision medicine focuses heavily on personalized treatment that takes into account an individual’s unique genetic composition. These practices could lead to far more effective treatment methods in the future, especially for patients with rare diseases that have been linked to genetic factors such as mutations.

An example of the potential of genetic medicine is the story of Louis Clarke, whose case was first documented in a report co-authored by Dr. North. He was diagnosed with an extremely rare disease early in life and doctors figured he would be dead in just a few years. After having his genome sequenced, scientists discovered a genetic mutation that prevented essential vitamins from reaching his brain. He soon received high dose supplementation of these vitamins, which stopped his condition from worsening. While he still sustained some brain damage because of the time it took to discover what was wrong, he is still alive and well.

Genetic testing clearly has the potential to change medical practice, and can often diagnose patients more effectively than other means. Some advocates have suggested that everyone should have their genome sequenced when they are born, but Kathryn is hesitant about this strategy; it could reveal a huge number of genetic variations with unforeseen implications, and there is also concern about how and where the DNA information would be stored. For Kathryn, improved public awareness is essential before such steps could be taken. Regardless, Dr. North is one of many researchers who is leading the charge for precision medicine that has the potential to help millions of patients suffering from rare diseases.

What are your thoughts on this fascinating research and its implications for rare disease? Share your stories, thoughts, and hopes, with the Patient Worthy community!