As a leading rare disease advocacy organization, Global Genes is seeking to proactively support our RARE community members in their efforts to attain critical genetic testing that can aid in a diagnosis that has eluded them through prior testing. Exome and genome sequencing can supplement other patient data and assist in finding a diagnosis for these medical odysseys.
Program Mission To support the start of the rare disease journey for undiagnosed patients through connections, resources and direct funding for complex diagnostics.
|Ann Marie Jennison Recently Diagnosed Parent Advocate||Caroline Loewy Recently Diagnosed Parent Advocate|
|Andrea Epstein 2014 Undiagnosed Program Recap||Christy Spooner Recently Diagnosed Parent Advocate|
We are near completion with our pilot program of exome sequencing for 30 patients. Clinical sequencing providers for this program are the UCLA Clinical Genomics Center and Boston-based Parabase Genomics. Patients are sequenced at one of these labs based on geography. We shared an update at our 2014 Tribute to Champions of Hope Gala (Read Ann Marie Jennison’s story here) and plan to have a more in depth recap early 2015. We are pleased to report that many of our participants have received information that will move the needle forward in their medical journey.
|Advisory Board Participants
Fundraising: Plans are underway to expand our Undiagnosed Patient program. For 2015, we aim to secure double the funding, to triple the amount of people on their way to a diagnosis. To help us reach our goal of $200,000, and triple the number of families who can benefit from this state-of-the-art testing, click here.
About Patient Selection: We are pleased to be partnering with Syndromes Without A Name (SWAN USA) for the selection of patients who will be eligible to participate in this program. Note that that patients selected to receive the exome sequencing will also be subject to meeting several criteria. Please click here to visit SWAN USA to learn more about our collaboration and to be considered for future phases of our program.
Current Participants: For participants in the pilot program, recorded versions of the informational webinars presented by UCLA (click here) and Parabase (click here) are available. To receive the password for these webinars, please contact Amy Clugston at SWAN USA.We expect to continue to expand both the providers and patients that will be a part of this effort as we secure additional funding for this program. To be added to an interest list for information about future phases of this project or for additional information on the Undiagnosed Patient Program, please click here.