The New Chefs
Julia and Paul Child were living in Paris in 1959 when they first heard something called “television” was becoming popular in the States. After reading an article about the horrifying effects of TV on American home life with people across the country devoting entire rooms to “sit around for hours watching this magical new box”, they decided not to bother owning one. She and Paul discounted it as just another advancement that would be used primarily for pornography and mindless entertainment. Years passed and in 1962 after the surprising success of her book “Mastering The Art of French Cooking” she was shocked to find herself as the host of “The French Chef” on television. The series was a major hit and became one of the most widely watched shows on the relatively new medium. It ran for ten years and won numerous awards.
Her ironic experience of change helped me think about my visit to Silicon Valley last week. The President of The Gathering, Josh Kwan, invited me to be part of a group exploring topics built around the rapid and sometimes mind-numbing changes in the development of technology. Meeting with venture capitalists, bioengineers, biophysicists, and others, I was bothered, stimulated, shocked, and encouraged by what I was hearing and seeing. The accelerating progress in breakthrough new medicines like cell engineering, gene, and digital therapies is truly astounding. Touring a gene sequencing laboratory, listening to the array of investments being made in new wearable technologies, and a dinner conversation with Frank Chen, a partner with Andreesen Horowitz, and star of a popular YouTube show explaining artificial intelligence, driverless cars, and the future of machine learning, gave me more than enough to think about on the way home. I had meant to finish reading “My Life in France” but was distracted by my last 48 hours in Silicon Valley.
A Dark Future?
Many of us are concerned about the dark future of technology and where to draw the line on the ability to design not only machines but life itself. Where are the restraints? What will be the uses and abuses of these newest wonders? Will we lose control and destroy ourselves in the search not only for extended life but, for some, the goal of conquering death itself?
With all of that swirling around in my head I kept coming back to one of the scientists I had known before but had not seen in years. Jimmy Lin is the director of Clinical Genomics at the Genetics Branch of the National Institute of Health and led the computational analysis of the first-ever exome sequencing studies of cancer at Johns Hopkins. He is a specialist in next-generation gene sequencing, cancer genomics, and computational biology. All of that is easily found on Jimmy’s resume. However, one other item that frequently is overlooked is his being the founder of the Rare Genomics Institute. That is how I first met Jimmy.
Drug companies invest in treatments for diseases that have profit potential justifying the expenses of the research investments in development and approval. It is not practical for them to invest in rare diseases that affect only a very few people – less than 200,000. The term is “orphan diseases” because they cannot attract support. A third of those affected will not see their 5th birthday and 50% of those affected are children. In fact, rare diseases are responsible for 35% of deaths in the first year of life.
A Bright Hope?
While the expense of genome sequencing has decreased from over $95 million in 2001 to $5,000 today, it is still more than many parents can afford. You can imagine the distress of a parent discovering their child’s rare disease is not studied by or seen as a candidate for drug development by pharmaceutical companies, laboratories, and universities. As a young scientist and devout Christian Jimmy realized that and decided to do something with his unique skills. In addition to everything else he was doing professionally, he created Rare Genomics to provide personalized research projects, expert analysis, and recommendations, as well as connecting families to researchers for medicine development. All of these researchers – over 300 today – are volunteers. A parent can access resources, a community of shared experience and best practices for over 7,000 rare diseases through RareShare. While Rare Genomics cannot guarantee a cure, it can help identify physicians and others who are working on the orphan disease.
Yes, there will be dark consequences from all that is new. However, there will also be people like Jimmy Lin and organizations like Rare Genomics that will, at least for me, be sources for hope and wonder.
Photography by Libby Volgyes