How a blockbuster drug can become a subsidized 'orphan'

With the advent of genomics, diseases that were once grouped based only on clinical descriptions are now being understood more precisely as different rare diseases.

"Everyone wants to find a rare disease that can also be used for a majority of the population," Lin said. "Many blockbuster drugs started off as rare indication. If you have something working for one disease, you want to try it for others as well." He added, "The drug pipeline for common diseases is drying out, so pharma companies are trying to get creative here."

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Jimmy LinCNBC
Genomic advance lifts hopes of patients with rare diseases

“The genomics revolution has allowed us to understand rare diseases on a molecular level in a way that was not possible before,” says Jimmy Lin, founder of the Rare Genomics Institute, a US non-profit research network. These breakthroughs have been accompanied by a second driving force: digital technology. The ability to harvest and analyse large volumes of genomic data are accelerating the hunt for genetic markers of disease and, crucially, helping identify people with rare conditions who might previously have gone years without diagnosis.

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Jimmy LinThe Financial Times
Science, patients driving rare disease drug research surge

The investments come as researchers harness recent scientific advances, including the mapping of the human genome, sophisticated and affordable genetic tests and laboratory robots that can screen thousands of compounds per hour in search of the most potent ones.

“It’s a very, very promising time,” said Jimmy Lin, a National Institutes of Health cancer researcher who co-founded the Rare Genomics Institute.

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Kickstarting a cure: One doctor is crowdfunding the hope of 25M Americans who struggle from rare, debilitating diseases

“There were many, many inspiring stories of people fighting cancer, for sure,” Lin would later say of his time at Johns Hopkins, where he received a dual MD-PhD in 2012. But despite his groundbreaking work, the young researcher had become increasingly haunted by an uncomfortable medical disparity: cancer claims nearly eight million lives a year, and attracts billions in federal research dollars, but multitudes more people—25 million in the U.S. alone, and 300 million globally, by some estimates—suffer from rare diseases or disorders for which there are often no clues, let alone cancer-esque coffers of funding.

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Jimmy LinSalon
Top 10 Medical Research Trends to Watch in 2013

The National Institutes of Health is getting into the action with its “skip the post-doc” Early Independence Awards to help free exceptional young minds from the academic treadmill. Jimmy Lin’s Rare Genomics Institute is crowdfunding genomic sequencing for patients with rare diseases — and there’s much discussion about crowdfunding’s utility in life sciences. Crowdsourcing is gaining traction in life sciences, from FoldIt’s online protein folding games to Transparency Life Sciences‘ crowdsourced clinical study design.

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The Future of Chocolate

“The [genome] map opens our understanding of the organism for the first time,” says Jimmy Lin, a computational genomics researcher onfaculty at Washington University in St. Louis. Lin is part of the team that sequenced the human genome at Johns Hopkins. “Like the sequencing of the human genome, endless possibilities are now open. However, further work is needed to decipher the genome to possibly modify it for pesticide resistance, flavor enhancement, longer survival, etc.”

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Your Genome's On An iPhone (trying to call home...)

After talking with Illumina’s CEO, I spoke with Jimmy Lin of the Rare Genomics Institute   about his innovative approach to patient-centricity in treating rare diseases.  Dr. Lin has created a crowd sourcing model where patients and their families can raise funds through social networking, use those funds to sequence a genome using services such as IGS, partner with geneticists willing to help interpret the results, and then make the case to pharmaceutical companies to pursue novel treatments based on solid biological data.  In essence, the Rare Genomics Institute is a virtual biotech company – patients and families raise the funds (IGS charges roughly $9500 for a whole genome), quickly generate a DNA sequence library, work with volunteer physicians and researchers to identify genetic regions unique to their disease, and present that data to patient advocacy groups and interested biopharmaceutical companies to pursue treatments. 

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Jimmy LinForbes
Hacking the President’s DNA

“Right now,” says Jimmy Lin, a genomics researcher at Washington University in St. Louis and the founder of Rare Genomics, a nonprofit organization that designs treatments for rare childhood diseases based on individual genetic analysis, “we have drugs that target specific cancer mutations. Examples include Gleevec, Zelboraf, and Xalkori. Vertex,” a pharmaceutical company based in Massachusetts, “has famously made a drug for cystic-fibrosis patients with a particular mutation. The genetic targeting of individuals is a little farther out. But a state-sponsored program of the Stuxnet variety might be able to accomplish this in a few years. Of course, this work isn’t very well known, so if you tell most people about this, they say that the time frame sounds like science fiction. But when you’re familiar with the research, it’s really feasible that a well-funded group could pull this off.” 

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Jimmy Linthe Atlantic
Why Cheaper Genetic Testing Could Cost Us a Fortune

Maya’s mom turned to the Rare Genomics Institute (RGI) — essentially Kickstarter for mystery illnesses — which helped her raise money online to sequence Maya’s exome, the sliver of her genome that contains the genes that do most of her cells’ work. Six hours after a fundraising profile was posted with a photo of Maya and a description of the “silly, cuddly girl” who “loves to read books, paint and play with her dog,” a combination of friends, relatives and strangers had raised the $2,500 needed — a subsidized rate Yale had agreed to charge RGI families.

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Jimmy LinTIME
Crowdfunded Searches for Medical Miracles

“There are millions of kids wandering from place to place that no one is really helping,” says Lin. He believes answers may lie in their genes. To find out, he and more than a dozen other young scientists and researchers created the Rare Genomics Institute, a nonprofit that leverages falling DNA sequencing costs and rising online giving to support medical research.

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Crowdfunding rare disease research – one family at a time

Using RGI’s crowdfunding platform, Maya’s family sought to raise the amount needed. The response was overwhelming. Within 6 hours, donors from all over the US gave to their cause in small amounts of $5 - $50 to raise the funds necessary for whole exome sequencing. With the funding available, the scientists were able to start the research study.

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Jimmy Linboing boing
Holy Genetically-Engineered Organisms Batman - Synthetic Biology Has A Banner Month!

“Though we need to do further research to confirm this first gene discovery, it is a major milestone,” said RGI founder Jimmy Lin, MD, PhD, a physician-scientist on the faculty at Washington University in St. Louisand a 2012 TED Fellow. “The most exciting part of Maya’s project is that we are enabling research that could not exist otherwise. Through RGI’s network of academic institutions and crowdfunding, we hope to remove the barriers to technology access and funding to empower families like Maya’s to advance research for their loved one’s rare disease.”

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Jimmy LinForbes
Cheap DNA Sequencing: What's in it for You?

"Maya is the first person in history with an error in this gene," says RGI founder Jimmy Lin. "So, you could say we may have identified a new disease through this ... and we're now able to take next steps."DNA sequencing has already revolutionized the way we diagnose and treat diseases like cancer. However, it's especially useful for rare diseases that may hinge on just a few individuals.

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Jimmy LinMashable