An Update From Our 2019 Fellow

“They give them steroids and send them home.” These words were what made me decide to do my PhD on Duchenne Muscular Dystrophy. My PhD supervisor was lamenting about the lack of treatment options available for DMD and felt like these patients are often forgotten. In typical Aussie underdog mentality, I knew this was the area I wanted to work on and to help make a difference. I began my PhD in 2011, and at the time, there were some clinical trials happening, but the CRISPR and gene editing space had yet to explode as it has now.

My goal for my PhD was to try and find something patients could take in the meantime until therapies that correct the primary genetic defect were available. Never in a million years did I think I would end up working on life-saving therapeutics in my postdoc with Associate Professor Monkol Lek at Yale in partnership with Rich and Cure Rare Disease.

Since our first meeting with Rich, he has assembled an incredible team of passionate scientists, clinicians, and regulatory staff/advisors. For me to be part of this was a huge opportunity.

So I am sure you all see scientists in the lab on TV solving crime in half an hour with fancy machines, making witty quips and have pristine lab coats! Unfortunately, lab life isn’t that glamorous! In the lab, many experiments take days/weeks, they fail, and you go back to the drawing board and try again. We have fancy machines, but they don’t cure Duchenne in 30 mins or less, and I assure you, my lab coat is far from pristine! In the lab, our goal was to come up with a way to correct/bypass Terry’s genetic mutation. We have tested the strategy on cells that we got from Terry’s body that we grow in the lab.

Since receiving the Cure Rare Disease Fellowship last year at the Annual CRD Gala, we are now in the process of testing the strategy in mice in conjunction with Charles River Labs. This is a huge step in the research as we are getting closer and closer to getting this therapy to Terry; however, the mouse studies are pivotal to make sure that it will be safe for Terry and not cause unwanted side effects.

Unfortunately, when COVID-19 hit, it meant that Yale had to shut down research to keep staff members safe. This closure happened pretty suddenly, and it definitely affected our research plans. Not being able to receive mice meant we had to scramble, and Charles River Labs was able to keep the mice, and we sent them the testing material. Luckily everyone on the project was able to adjust, and we got to continue testing. My hours in the lab were drastically reduced compared to normal. For scientists, this is our life. Its why we get up in the morning, so it was hard for me not to be able to go into work. I was very fortunate that we were able to get approval from Yale to continue some of the important preclinical work during the shut-down; otherwise, I think I would have gone crazy! Since May 20, we have gone to a Phase 1 re-open, which means lab members are working in shifts, wearing masks, and social distancing to ensure our safety whilst being able to continue our important work. All of our lab members have been so great about adhering to the new normal and were very excited to get back into the lab. For me, another huge benefit of working on this project under Monkol Lek is the people. Monkol truly is a great boss who is super supportive and encourages me at every turn. I have wonderful help and support in the wet lab from Kaiyue Ma, a very talented PhD student, and Dr. Shushu Huang, a visiting scientist. These guys help the Lek Lab be “all hands on deck” and get results quicker. It truly is a team effort, and I am thankful to these guys every day for all the hard work they do.

One great thing that I got out of COVID-19 was I got a puppy. Since being home more, it was the perfect time to add a furry menace to the house and “train her” (we have our days). So this is Aria, she is an Alaskan Klee Kai or mini-husky (another famous AKK is Bill Belichick’s dog, Nike). She is six months old now and 13lbs, and she won’t get much bigger. She definitely has made our life interesting. Her likes include food, pretending she hasn’t been fed to con the other person into feeding her again, puppy zoomies and rolling in the grass and howling (she discovered she could howl at midnight one night!). For more puppy spam feel free to follow her on Instagram @aria_theminihusky!

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