Robbert Jan Stuit @rjstuit of Project MinE was kind enough to respond to some of my tweets and subsequent questions. His answers are with my questions below.
Thanks for tweeting back this week.I'm not at all well versed in genetics and have questions (and frankly, concerns based on the uncoordinated information silos we have in the US regarding ALS patient data).If you do a complete genome sequence on a patient, does that automatically give you everything you need to know when a new ALS gene is discovered? Yes, it does, all information needed is there.Do you retain tissue for further testing? YesDoes you work fit together at all with Steve Kolb's C9 project in the US? We do not know about this project.Will your genetic data stand alone, or will it be possible to add patient background or progression information to each patient's genetic profile? The patient background and progression information is key to have along with the genetic profile.Do I ask a lot of questions?I was surprised at the cost. Something is rattling around in my head that one of the Miami FALS researchers once said that complete genome sequencing could potentially be done on PALS for < 1000 US$. Perhaps I misunderstood. They price we communicate is currently one of the lowest offered by whole genome sequencing companies as far as we're aware. You might have misunderstood and the other researchers may have referred to 'exome sequencing'...I feel strongly that we need to have complete, accessible data on each ALS patient including genetic information. Today we have what amount to scraps of notepaper here and there and everywhere, and nobody can tape Mrs. Smith's information into a cohesive and meaningful resource. We do not collect DNA without all the other information about a patient. We also have several studies ongoing into environmental factors that may cause ALS, see www.als-onderzoek.nl (a Dutch site unfortunately, but Google translate might work...)
Years ago a PALS in the US told me that he felt like he had left tissue all over the country. Nobody is keeping track in a central place of where the tissue is and what information it has yielded. In Europe we are coordinator of an EU-funded project that focusses on solving exactly this. Many European ALS centers are involved, a website on this project will go live early 2014. The project is called 'SOPHIA'.Thanks for any insights.