09/04/2025
An announcement from Dr Hunter:
Hey everyone, I know I usually share something random or funny, but I have something 100% serious to announce. I usually don't publicly share personal or professional achievements on social media, but this is something I've invested a ton of time and resources into, and given the effort and impact, I believe it's worth sharing this accomplishment openly.
I recently discovered a new disease, and my article was officially published today in the International peer reviewed journal Advance Genetics.
https://advanced.onlinelibrary.wiley.com/.../ggn2.202500015
This new disease is called Type AB Brachydactyly. It is phenotypically (looks like) related to a group of diseases called brachydactyly (Google Murder's thumb, toe thumb, or Megan Fox's thumb to see a different variant of it), but as this genetic disease with never been seen before mutations, it's classified as a new disease by its own right. The last discovery in the brachydactyly family was well over 20 years ago.
This makes me the first podiatrist ever attributed to finding a disease. Not to mention one of the very few physicians in private practice to do so.
Many university professors and researchers go their whole career and never discover a new condition. Making this contribution to science likely the pinnacle of my career achievements.
Balancing private practice with research is challenging, and this discovery would not have been possible without the support of my staff, and my geneticist colleague Dr. Muhammad Ilyas, who is a professor at the University of Islamabad.
But I have to give a shout out to myself. This venture came to me when I was at one of the busiest times in my life, but I recognized the condition's rarity and made the decision to pursue learning more about it. I had to fund all the testing myself to the tune of 1000s, spend hours teaching myself about genetics and genomes and embryology, writing and refining our article, and dealing with multiple rejections from publishers, who told us while it was a good article but basically was "not interesting enough to our readers" or "too long, too detailed". There's a dozen times I hit roadblocks and could have given up, but I was too far mentally invested to back down, and it paid off.
Due to the ultra-rarity of this condition, it likely wont be seen again for many years. But the mutations we discovered causing it, likely will give insight into some other diseases, as these are relatively unknown mutations in the genetics world.
This milestone is also a tribute to the science teachers who inspired me back in high school. Mrs Higa, Fukuchi, and especially Mrs Mahoney, and many more teachers at Mililani High School. For as an adult now, with the million and 1 things we have to do, I recognize how they MADE the time to go above and beyond for their students. I know Id never developed such a love for science and pursing the unknown if it wasnt for them.
