Want to Prevent Genetic Disease? Study the Healthy Right Now: Stephen Friend at TED2014


Stephen Friend wants your genes — no, really. Today at TED2014 he announced the Resilience Project, a new crowdsourced effort to understand the quirks and patterns of human genetic code that control— and could help treat— genetic diseases. Thirty years ago, the open-science advocate was working […]

Accurate Diagnosis of Rare Diseases Remains Difficult Despite Strong Physician Interest

GlobalGenes Physician Survey InfoGraphic FINAL

Research published in The Journal of Rare Disorders highlights the need for improved physician education and referral programs. Patients living with rare diseases visit an average of 7.3 physicians before receiving an accurate diagnosis, according to a recent survey of patients, family members, physicians and […]

Parents’ Foundation Brings Rare Disease Out of the Shadows


Shari and Tom Hume have an unusual wish for their homegrown nonprofit, the Cure JM Foundation. They’d like to put themselves out of business as soon as possible. But 10 years after they co-founded the Encinitas charity with money from a lemonade stand, there is […]

RDLA and Global Genes Urge Patients to Share Their Story with Congress


Deadline:  February 12, 2014    We are excited to partner with Rare Disease Legislative Advocates  for their Annual Legislative Conference and Lobby Day on February 27, 2014.   If you are unable to join us in Washington DC, but wish to take part in our lobby […]

Forbes Rates 16 Pharma Companies for 2013


How’d Big Pharma do this year? Very well. I decided to give every drug company with a market capitalization greater than $50 billion a letter grade, just like in school. The basis for the grades: I started with stock performance as a basic metric, and […]

Top 50 Thought-Leaders in Orphan Drugs and Rare Disease: New Report


This report, created by Terrapinn and the World Orphan Drug Conference recognizes the top 50 thought-leaders in orphan drugs and rare disease. Chris Austin, Director, National Center for Advancing Translational Sciences, NIH In September 2012, Christopher P. Austin, M.D., was appointed the first permanent director of […]

NYSCF Partners NIH to Generate Stem Cell for Treating Rare Diseases


In what is anticipated to be a major step forward for rare disease research, The New York Stem Cell Foundation (NYSCF) Research Institute is partnering with the National Institutes of Health (NIH) Undiagnosed Disease Program (UDP). NYSCF scientists will generate stem cell lines from 100 patients in […]