One thing I’ve found in my years of working as a reporter and communications professional in biotechnology, health, and disease advocacy and fundraising is that rare diseases aren’t so rare. Every one of us is, has or knows someone.
In my small circle are exceptionally rare conditions such as KCN2, scleroderma, aplastic anemia, and ALS. Several significant conditions run through my own family. -Brendan Doherty
My family is filled with front line health professionals, ER PhD MDs, nurses and pharmacists helping deliver care to people with rare diseases every day. I’m proud to support research into rare diseases. For a time, I worked at the Scleroderma Research Foundation, where researchers at Johns Hopkins who were studying an unrelated disease found a hereditary genetic marker that led to the development of a possible diagnosis and treatment for the disease. Meanwhile, tools related to epigenomic study and CRISPR technology gave many of these patients hope that previously unreachable gene omissions and errors might have a corrective mechanism.
The truth is that research matters. It is hard work, and requires many steps and lots of money. Someone needs to turn over every rock. Someone else needs to connect the dots. Someone needs to check the work. There is trial after trial, and when technology sees an advance, someone needs to go back and meticulously turn over the rocks, connect the dots and go again.
It takes dedicated scientists, committed families, courageous patient communities, luck, game-changing breakthroughs, and a tremendous and collective will to win if many treatable conditions are to progress. This work comes on the shoulders of giants. I was a reporter when the genome was mapped. While the mapping led to numerous treatments, it also led to so many more questions.
Later, I worked with the people who invented PCR (polymerase chain reaction), which is the foundation of biotechnology. This is the work for our best and brightest biologists, computer engineers, biochemists, genetic engineers and automation specialists.
While I’ve been fortunate with my own health so far, I cannot help but see how difficult it is for others. I have witnessed bold, powerful, and courageous work. I also saw the technical, regulatory, financial, and communications challenges faced by even the very best. It inspired me to find my own way to make a difference.
Years ago, I began roasting coffee as a personal passion fueled by my commitment to continuous learning. I have worked at several cafes, and live in the cradle of coffee innovation. My coffee is intended to be accessible and delicious. It gives me great joy that my work would support the many who give their special talent – research, advocacy, fundraising, organizing, caregiving, regulatory oversight, and so many others.
It is my hope that the coffee here might help fund, fuel or inspire others to find ways to give. There is so much work left to do for so many who desperately need and deserve it. I feel grateful that I can pursue a passion, create beautiful coffee, connect with people interested in doing important work, and partner together for progress on the biggest challenge of our time.
You can support SIGNAL Roasters and Global Genes by sipping on their RARE Roast Blend.
This piece is a guest post contributed by Brendan Doherty, founder of SIGNAL Coffee Roasters.