Welcome to the In-Depth Genomics community!
“Diagnosing & empowering patients today to hasten the delivery of therapies and cures for rare diseases”
Preparing for In-Depth Genomics
From it’s conception, this was never a small project. Over the course of just a few months, my efforts to materialize the vision of a free genomics program that could simultaneously improve diagnostics and research across hundreds of rare diseases continued to grow larger than life. It’s hard to count the dozens of people who have guided me with their support and inspiration, but I know that without them I wouldn’t be writing this message today.
Leaving my ‘past life’ at the Jain Foundation was not the ending I imagined when I started this journey. Over the last 12 years I’ve found a niche within the muscular dystrophy community where my team successfully cultivated research into clinical trials for the rare condition of LGMD2B. In spite of it’s name”rare disease”, this work revealed a key lesson: rare diseases aren’t so rare. This isn’t meant as a trite comment; curing thousands of other rare conditions requires fighting many of the same battles we faced with LGMD2B. Advances in next generation sequencing technology have made it possible to quickly analyze a person’s DNA for thousands of diseases with clinical accuracy. If we were to join together to deliver this cutting-edge technology to the thousands of patients waiting for a diagnosis, we could improve treatment options for people today and find tomorrow’s cures.
With this as my guiding mission I know I have not left behind the LGMD2B community and continue to support them implicitly through In-Depth Genomics. As I recently wrote for Neurology Reviews’ rare neurological disease special report, “I’m so proud of what we have achieved…but I am no longer satisfied that this is enough”.
Read the full article here : Changing the diagnostic story of dysferlinopathy