The DISCOVER Program for Undiagnosed Diseases

https://youtu.be/jAJakoxbY3c

Through Columbia’s DISCOVER Program pediatric geneticist Dr. Wendy Chung and her team have an outstanding record of diagnosing children with rare, and often previously unknown, genetic diseases. (Meet sisters Felice and Nikki in the video here, patients in our DISCOVER Program, who were diagnosed with a rare glycogen storage disease.) Dr. Chung uses a number of tools to reach a diagnosis, including genomic sequencing and a thorough evaluation of each patient’s records and tes...t results. Sometimes these tools yield a treatment immediately, but while incredibly exciting, such quick wins are also very rare. The process of identifying a new disease-causing genetic mutation, fully characterizing the disease, and developing a patient treatment is much more arduous. Through our new TREATMENT Program we aim to transform and accelerate the process by which we understand and treat children with rare diseases, and are working on collaborations with pharmaceutical companies, the National Institutes of Health, and private foundations to develop research studies and clinical trials of new treatments and to work toward cures for these rare genetic diseases. https://www.youtube.com/watch?v=Toc1U_HBlJs See more

http://www.kif1a.org/treatment-.html

Catch Dr. Chung on the NYP Health Matters page! https://healthmatters.nyp.org/inside-nyp-dr-wendy-chung/

if you or your family members are affected with a rare undiagnosed condition, we can help! call us at 212-342-4622 #WeUncoverAtDISCOVER #RareDiseaseDay

http://www.oncallhealthmed.org//wendy-chung-discusses-gen/

Proud to help raise awareness for our rare patients! http://www.kvue.com//genetic-testing-reveals-rar/384896540

Check out our WSJ article featured by Global Genes.

The Wall Street Journal Thank you for giving voice to the challenges of rare diseases. http://www.wsj.com//the-doctors-who-solve-medical-mysterie

Learn the facts about rare disease: https://globalgenes.org/rare-diseases-facts-statistics/

Tune into the CBS News Sunday Morning, airing at 9:00 am EST this Sunday (August 28th)! for coverage of the Beyond the Diagnosis Art Exhibit. http://rarediseaseunited.org/b/beyond-diagnosis-art-exhibit

Think the ice bucket challenge was just a cynical ploy for cash? Think again, apparently.