Visualizing Rare Diseases

In the rare disease world, it’s sometimes hard to grasp the statistics and emotions that go hand in hand with having a condition that doesn’t get as much funding, research attention, or media attention as more common health conditions and disease. In honor of today being Rare Disease Day, we’ve collected some infographics that effectively communicate  the reality of orphan diseases and the people that struggle against them.     Read about FKH’s commitment to rare...

Hot Topics In Rare Disease

Tomorrow is Rare Disease Day, an international health observance with the objective of raising  awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives. As many research, provider and advocacy organizations with strong connections to the rare disease community are launching initiatives this week to support that objective, the weekly #abcDRBchat series on Twitter took up the topic during this week’s discussion. Below we have collected some of the top discussion themes that arose out of the 2,700 tweets that were published during Tuesday’s chat. [View the story...

2013: A Big Year for Genomics, Genetic Testing and...

2013 was a banner year for raising the visibility of genetic testing. The news varied. It can be argued, however, that all parties (patients, clinicians, industry and researchers) have benefited from the increased coverage. This brief snapshot of the stories about genetic testing that made it into the headlines in 2013 suggests that we are at a critical point. Patient demand, industry innovation and policies are converging. Consumers seem to embrace the technology and the opportunity to take action with the information they may receive. The law is carefully considering how to treat genetic information and the regulatory agencies continue to...

The (New) Ethics of Medical Privacy

I recently had the opportunity to attend a screening of Here.Us.Now., a documentary funded by the Ewing Marion Kauffman Foundation. It should be required viewing for anyone who touches the health care system, which includes pretty much everyone. The film tells the story of Chris and Hugh Hempel’s medical odyssey in the wake of their twin daughters’ diagnosis with a rare, incurable disease called Niemann-Pick Type C. I can’t get this film out of my head.   Why? Because it not only tells the Hempels’ story rationally and beautifully, it uses their narrative to absolutely nail the bigger issues facing any family desperately...

Here. Us. Now: Documentary Spotlights Rare Disease

Recently, members of Feinstein Kean’s Cambridge staff gathered for a screening of the documentary Here. Us. Now. The film shares the inspirational story of two parents who receive a crash course in drug development. Hugh and Chris Hempel of Reno, NV were forced into the world of rare diseases when their twin daughters, Addison and Cassidy, were diagnosed with Niemann-Pick Type C (NPC1), a terminal disease affecting only an estimated 1 in 150,000 people worldwide. NPC1 is caused by a genetic mutation involving lipid metabolism and eventually leads to fatal build-up of lipids in the brain. This causes developmental delays and leads to...

Get your hands off my genes!

Recently the U.S. Supreme Court ruled that human genes cannot be patented and that any existing patents on one or more of our naturally occurring 22,000 genes will now be invalid. The case centered around Myriad Genetics patent claim on two genes associated with a higher risk of breast and ovarian cancer, BRCA1 and BRCA2. Myriad had patented both the diagnostic test for these genes and the genes themselves and held the market monopoly, charging on average $3,500 per test, a price that Angelina Jolie recently described in her New York Times article as “an obstacle for many women.” To use the genes/jeans analogy, original store-bought...