SAN DIEGO and ST. LOUIS, April 2, 2013 On Rare Disease Day, Assay Depot and Rare Genomics Institute (RGI) announced the winners of the first ever Rare Disease Science Challenge: BeHEARD (Helping Empower and Accelerate Research Discoveries). In total, more … Continue reading →

During the summer of 2012, several motivated students in Canada had an opportunity to participate in a month-long internship with RGI through the Shad Valley program. They researched many different facets of rare diseases—from the mechanisms of different diseases to … Continue reading →

As our website goes through some remodeling, and we look for a permanent home for our podcasts, here is a collection of the links to all of our podcasts produced so far! Our first podcast with SWAN on 6/28/2012, with … Continue reading →

St. John’s Ravenscourt School, in Winnipeg, Manitoba, held a bake sale on December 5, 2012 to raise awareness and funds for the Rare Genomics Institute. Following a briefing about what the institute does and why I’m extremely passionate about supporting the cause, many … Continue reading →

RGI’s method, our successes, and possible future are discussed in this article.

WHAT: RGI is to present “Rare Genomics Institute: Rare99X Clinical Exome Challenge” at the annual Partnering for Cures meeting in New York City on the 30th of November. It is one of 30 transformative, cross-sector collaborations featured in the Innovator Presentation track of … Continue reading →

The Presidential Commission for the Study of Bioethical Issues (PCSBI) released a report on October 11th concerning genomics and privacy. The report, Privacy and Progress in Whole Genome Sequencing contains recommendations on how the country should proceed along the genomic path and … Continue reading →

This is the transcipt of the Rare Disease Podcast featuring Drs Lyon, Angrist, and Perlman, and with a spotlight on Ataxia. See below! – Jimmy:                    Hello everyone and welcome to this session of our podcast series that we’ve created. … Continue reading →

A Forbes blog post yesterday about Individual Genome Sequencing featured Rare Genomics along with Illumina! Here’s a quote to whet your appetite for reading the article: “[Rare Genomics'] model, enabled by advances in technology, hits all the right buttons for … Continue reading →

Maya and her family’s story of their journey to and through genome sequencing via us is featured in the last installment in the TIME Healthland series about the sequencing of children’s genomes! The article also questions whether genome sequencing for … Continue reading →

Today, RGI and Assay Depot are announcing our joint Rare Disease Research Competition, Be HEARD (Helping Empower and Accelerate Research Discoveries). This is a great opportunity for rare disease groups, or single families, to team up with researchers and get … Continue reading →

Just what everyone was waiting for on this Friday: the ataxia podcast recording is here!! Listen to it! And, some bonus material from Dr. Perlman answering more questions about ataxia! Listen and educate! In the words of Dr. Perlman, everyone … Continue reading →

Hello, all! We had a great time with Drs Lyon, Angrist, and Perlman talking about rare disease research and ataxia! Hopefully you were able to join us, if not, the recording will be posted soon. If you did join us, … Continue reading →

We are proud to announce that the first episode of our rare disease focused podcast, produced with Ben’s Friends, is going to occur on October 4th, from 7-8pm EST! The subject of this episode will be Ataxia: “problems with coordination because … Continue reading →

Hello all! The Shad Valley interns completed their intensive three week program with us, and did some amazing work! Congratulations to all of them, and we appreciate their hard work so much! We have a podcast series coming up planned with … Continue reading →