From Data on Friday, to an AGBT presentation on Saturday: Group at HudsonAlpha uses Ingenuity Variant Analysis™ to ID candidate for Follow Up at AGBT

As a first year attendee, we were excited and honored to be part of the scientific discussions and energy that makes AGBT such a unique meeting.  While we did not have Chewbacca or Darth Vader roaming around our demo suite, we did have an even better group of visitors.  We had the pleasure of meeting Dr. Shawn Levy, who is a Faculty Investigator at HudsonAlpha, and his colleague Braden Boone, who is a senior scientist in Levy’s Lab.

The Levy Lab has a research focus on applying genomic technologies to complex diseases such as Schizophrenia, Bipolar Disorder and other, more rare Mendelian disorders.  It is based out of the HudsonAlpha Institute for Biotechnology, an Alabama-based non-profit research leader developing high-throughput research tools to better understand the molecular basis of disease and how to apply this knowledge to improve patient health.

Dr. Levy and Ms. Boone dropped by our AGBT demo suite to check out our new software, Ingenuity Variant Analysis.  In the course of our discussion, we learned about some of the research challenges they were facing.  They were working on an analysis for Oliver-MacFarlane Syndrome, a rare disease with only 13 known cases identified since the 1960’s.  Sporadic cases exist in sibling pairs, which could indicate the possibility of autosomal recessive inheritance.  The phenotype is very severe – infected individuals are characterized by retinitis pigmentosa, stunted growth, and trichomegaly.  They were having difficulty identifying which variants might be causal for this phenotype.

After seeing a demo, the team dropped by again – this time with some data.  They wanted to see if Ingenuity Variant Analysis could help them narrow in on some variants that could be interesting for follow up.  The biological knowledge on gene function and predicted impact on proteins offered by Ingenuity Variant Analysis was promising for Dr. Levy and Ms. Boone, because they were attempting to understand which variants could be causal for a particular phenotype – a task which previously was like looking for a needle in a haystack. After just a few hours – late on a Friday night and after a few glasses of wine – some interesting variants were identified using Ingenuity Variant Analysis.  Its data driven approach helped them identify a candidate for additional follow up in just a few hours instead of days.  Ingenuity Variant Analysis also identified a compound hit in the thyrotropin (TSH) receptor in the affected individual that is not present in the unaffected individual – an extremely interesting finding given that  Oliver MacFarlane patients are hypothyroid.

After dropping by with data on Friday evening, the Levy team was able to present this new work in the Roche Saturday lunchtime presentation – less than a day after they showed up with their data – and they now have some interesting candidates for additional follow-up.  We look forward to following their work as it progresses.  Stay tuned…..