Los Angeles, C.A. June 01, 2017. Rare Genomics Institute (RG) is happy to announce that our iHope program will continue for 2017. This partnership with leading genomics company Illumina Inc. (NASDAQ: ILMN) provides free clinical whole genome sequencing to selected children affected by rare or undiagnosed diseases. Since our launch on December 6, 2016, over 30 undiagnosed children have received free sequencing.
“I cannot believe that with Illumina’s generosity, we are now able to offer this cutting-edge technology to our families. We hope that by providing access regardless of their ability to pay, we are accelerating their path to a diagnosis and hopefully one day a cure,” said Romina Ortiz, MHS, COO and VP of Patient Advocacy, who is leading this operation for Rare Genomics Institute.
The RG Patient Advocacy Team will work with all hopeful families to determine candidacy for the program. Children with strong physician support for whole genome sequencing will be considered. Joaquin is just one of the children that has been sequenced and diagnosed through this unprecedented program, and we hope there will be many more success stories to report. Here is Joaquin’s story:
Joaquin is a child from Chile who suffers from seizures, autism, strange eye movements, trouble feeding, immune system irregularities as well as generalized and progressive dystonia leaving him confined to a wheelchair. His father Ignacio, a miner in Chile, first came to RG in 2012 after already spending 3 years searching for an answer for Joaquin’s illness. Joaquin’s journey with us has encompassed whole exome sequencing and research studies in collaboration with researchers from Washington University in St. Louis and Canada, which revealed mutations in a gene that regulates the movement of fat in the brain and offered the possibility of a lysosomal lipid storage disease. This year, we were able to get Joaquin free clinical whole genome sequencing through iHope and with it, he finally has his answer. He was 19q13.11 microdeletion syndrome and dystonia type 28. Of note, he has a whole gene deletion of the KMT2B gene. We are currently exploring clinical follow up to help treat Joaquin.
“The most difficult part was not knowing what was consuming him every day, what disease was robbing his childhood. Today with a clear and certain diagnosis, we only have one path to follow, and that gives us complete peace.”- Mother
About Rare Genomics Institute
RG is a 501(c)(3) non-profit that makes cutting edge research technologies and experts accessible to rare disease patients. Partnering with top medical institutions, RG helps custom design personalized research projects for diseases so rare that no organization exists to help. By providing an expert network and an online crowdfunding mechanism, RG helps families source, design, and fund personalized research projects in diseases not otherwise studied. Ultimately, RG aims to expand on its current genome sequencing-focused approach to enable support for whatever type of research is necessary to get closer to rare disease therapeutics.
For more information about Rare Genomics Institute, visit http://www.raregenomics.org.
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