Rare Genomics Institute (RG) is happy to partner with leading genetic sequencing laboratory Illumina Inc. (NASDAQ: ILMN) as part of their iHope program, which provides free clinical whole genome sequencing to children affected by rare or undiagnosed diseases.  Romina Ortiz, MHS, Co-founder and VP of Patient Advocacy and Policy, is leading this operation for Rare Genomics.

“My team and I have journeyed alongside many families as they try to access these technologies to help their children find a diagnosis. This unprecedented opportunity may open the doors for many more families.”

 

Who is eligible?

Children who are suspected of having a rare or undiagnosed disease, who have two biologic parents who can also provide a blood sample and a physician that recommends the test.

Is there a cost associated? 

There are no costs for the sequencing and interpretation. There may be cost associated with visiting your physician and drawing samples that you will be responsible for.

How long will it take to get results and will they be private?

In an estimated 90 days the results will be sent to your referring physician.

How do I apply? 

Complete our RG application and a member of our Patient Advocacy Team will contact you for next steps to determine eligibility.       

Dana’s Story

Rare Genomics Institute (RG) is happy to announce the first patient diagnosis through Whole Genome Sequencing within Illumina’s iHope program.

"I have no words to thank RG for all the help; you have not given up on us. Our situation before finding RG was one of complete uncertainty. The intense search has ended; now, after obtaining the genome sequencing facilitated by RG, we can focus on improving Dana’s capabilities and becoming as independent as possible.” - Rebeca Bentolila, Dana’s mother

She turned five years old on July 19th, 2016. Like most of RG’s patients, Dana had already seen over ten different doctors by the time she was two years old, including geneticists, endocrinologists and neurologists. Dana's condition was first observed clinically five years ago with an episode of eight back-to-back seizures, recorded global developmental delays and dysmorphic features.
 
Her mother Rebeca first contacted RG in April 2013. Originally from Venezuela, their journey to find a cure has spanned two continents in the past three years. Due to the political climate in Venezuela, Dana’s physician was not able to collect and send samples for sequencing outside of the country. The family was able to move to Spain in the summer of 2015 and with the help of their new geneticist in Barcelona, RG had her case accepted for free whole genome sequencing.

Dana has been diagnosed with phosphofurin acidic cluster sorting protein 1 (PACS-1) related syndrome. PACS-1 is a protein known to have a putative role in the localization of trans-Golgi network (TGN) membrane proteins. Now, Dana can get specialized treatment and therapy for her condition. And most importantly, the family has their answer.