Relevant references and citations — with detailed annotations — provided to TED by Stephen Friend.
Stephen Friend et al., "A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma," Nature, October 16, 1986
Matthew Herper, "The Truly Staggering Cost of Inventing New Drugs," Forbes, February 10, 2012
The costs for drug development have not budged; in fact, they cost more to develop now than ever.
Mary Carrington et al., "Genetics of HIV-1 infection: Chemokine receptor CCR5 polymorphism and its consequences," Human Molecular Genetics, 1999
This is an example of the importance of studying those who should have gotten sick: Studying those individuals who were infected with HIV but did not get the symptoms of AIDS in San Francisco in the 1990s led to finding a protective gene for AIDS. Those who had defective receptors for the HIV virus did not get sick. This has led to the development of new AIDS drugs.
Stephen S. Hall, "Genetics: A gene of rare effect," Nature, April 9, 2013
More recently Helen Hobbs studied people who have high lipid levels yet did not get severe heart disease. Hobbs found protective mutations in those who should have gotten heart disease. New therapies are being developed using this protective gene approach.
Register to be contacted to be part of this study, The Resilience Project.
Eric Schadt: How about a GPS for your DNA?, TEDMED 2011, October 2011
The retrospective work being done on The Resilience Project has been greatly enabled by my co-leader, Eric Schadt, and his team based at The Icahn Mount Sinai School of Medicine, as well as Hakon Hakonarson at The Children’s Hospital of Philadelphia, Leif Groop at the Institute for Molecular Medicine Finland, Anne Wojcicki and Brian Naughton at 23andMe and Wang Jun and his team at the Beijing Genomics Institute.
A set of diverse open projects including The Resilience Project can be found at the Sage Bionetworks website.