For 35 years excellent PSC research has been taking place at the Norwegian PSC Research Center (NoPSC) at Rikshospitalet in Oslo, Norway. It was therefore time for PSC Patients Europe President, Marleen Kaatee and Board members of the Norwegian patient organisation Forening for Autoimmune Leversykdommer (FAL, www.fal.link) Espen Bunæs (Board Chair), Åse Kjellmo (International Relations) and Line Hole (Norwegian PSC Day), to visit the premises and hear more about the past, present and future of this dedicated team of researchers.
In sunny Oslo we were warmly welcomed by recently retired NoPSC Director Professor Erik Schrumpf, Research Nurse Mona Bjørnstad, Manager of NoPSC Biobank Liv Wenche Thorbjørnsen and full professor of medicine and senior consultant Professor Dr. Tom H. Karlsen.
Recently Professor Schrumpf and his colleagues published the article ‘Primary sclerosing cholangitis – the Norwegian experience’ in the Scandinavian Journal of Gastroenterology, giving a detailed overview of NoPSC from where they started to where they are today. It’s a great starting point for our meeting. During his presentation Prof. Schrumpf gave us a summary of NoPSC. The team received a large private grant in 2007, worth net Norwegian Krone NOK 100 million (Euro 11,4 million) with the specific request to investigate the genetic component of PSC. Norwegian law obliges the government to add 25% to every donation, meaning NoPSC has in total 12.5 million NOK (Euro 1,4 million) to spend annually for 10 years. This led to the establishment of NoPSC in 2007. A few months ago they received confirmation that they will receive another generous donation over the next 10 years, enabling them to continue their research. Professor Schrumpf will still be actively involved, as one of the many hats he wears is as a member of the NoPSC Scientific Board.
Fig 1: Org chart Norwegian PSC Research Center
So far the NoPSC team has discovered 17 genes that are PSC-related, and ‘have identified a further 33 genes expected to have a link to PSC, but need further investigation’. A human has a total of 25,000 genes, and although there has been an enormous improvement in technology over the years that enables much quicker results in this field, there is still a long way to go. At the end of summer we will publish more details on Professor Schrumpf’s article, in Part II of NoPSC.
Also, the earlier mentioned generous grant made it possible to establish the International PSC study group (IPSCSG) in 2010, which is also coordinated from NoPSC. This international group of PSC researchers aims to coordinate all PSC related research projects worldwide. Currently 17 countries are represented, allowing for effective PSC projects with a significant size with scientific importance. (An article later in the year will provide more information about IPSCSG – mk)
Responsibilities Research Nurse
Research Nurse Mona provided us with insight into her daily duties as part of team NoPSC. As a research nurse, she is coordinating many of the activities and is therefore the lynch pin of the NoPSC team on a national as well as an international level. She coordinates sampling from various surveys, collects clinical data and is in charge, amongst many other things, of patient recruitment and updating the patient database. She also conducts clinical- and drug-initiated trials.
Marleen was also given the opportunity to pitch PSC Patients Europe.
Tour of the NoPSC Biobank
A tour at the PSC biobank was next on the agenda.
Bio-engineer Liv Wenche explained to us in detail about how the PSC biobank (figs. 2 – 5) is built up and how records are kept (fig. 6). She is in charge of the daily management of the biobank: sampling, preparation and the storage of the biological materials (blood, urine, faeces). She is also in charge of DNA / RNA extraction and the quality control. This biobank was established in 2008 and it has both cross-sectional (only once) and prospective (annually) sample collections. It is a vital shared resource for all projects supported by NoPSC and collaborating centres.
Fig 2: Barcoded tube => 100 tubes per tray => software keeps track of tubes
The NoPSC biobank software helps the researchers keep track of all the human samples in an incredibly detailed manner. A tray has 100 tubes. In each tube 19 parameters are registered, including material category, sampling date and time, date of preparation, volume, number of freeze/thaw cycles and remaining volume (after withdrawal).
Also, there is detailed information on the position of every tube: freezer, rack, drawer, place, box number, and two-dimensional positioning. The freeze temperature, which at NoPSC is at minus 800 C, is logged once per hour and linked to the tube information.
Even if one would, by accident, misplace or drop the samples, the software will have no problem linking the various samples, thanks to the QR barcoding on every individual tube (see fig. 2).
Fig 3: NoPSC biobank freezer Fig 4: Using protective gloves, Liv Wenche shows drawer
Fig 5: Frozen tray number 0189
The biobank software (fig. 6) also has detailed information per patient, which can be viewed anonymously. Besides the obvious details, such as age, sex, height and weight (BMI), other details like ethnicity, smoking habit, medication usage and other chronic diseases, diet and, if applicable, time abroad of more than 4 weeks in length during the last 12 months, are registered. Much more is kept track of on individual patient levels; for example there is a special box in the software where the researchers can indicate which autoimmune disease the patient has that are linked to the 17 genes found.
There are approximately 60 tubes per patient. In addition, faeces from about 800 patients , urine from less than 100 , bile from more than 300, biopsies from about 125, and brush cells from bile ducts of about 200 patients are stored in the biobank.
Fig 6: Patient data detail
Currently, there are blood samples of 1,070 liver patients in the Norwegian biobank, of which 300 are PSCers. The collection of samples is from Norwegian patients, but they are collaborating with the international research groups in several analyses.
Last, but not least on our agenda was a conversation with Professor Dr. Karlsen on further collaborations between patient organisations and research groups. Both parties are eager to work closely together, both on national scale as well as in the international field, as we have a shared interest and can learn from each other.
Professor Karlsen expressed his appreciation for the advocacy of both PSC Patients Europe and FAL and we all had ample ideas on how to get the PSC word out there. “It is a complex landscape and it is very important to have a voice!” according to Professor Karlsen.
It is greatly reassuring to hear that researchers and doctors are very interested in hearing the patient’s voice in their activities, one of them being a quality standard of care from a patient’s perspective. In the months to come, both FAL and PSCPE will be involved in this topic on a national level, while keeping each other updated on progress. The goal will potentially be a roll-out on a European level.
Further to our talk with Liv Wenche, FAL will inform the Norwegian members more in detail about how they can advance research by giving a yearly sample of blood. They will look at possibilities for patients living in the greater Oslo area to donate some blood samples to the biobank for research purposes.
Professor Schrumpf spoke about a plan of making a national registry of all PSC patients. A member of the board of FAL could be part of a national expert group aiming to establish national guidelines for the follow-up of PSC patients.
“There is a lot of energy in the PSC research field, so the patients are lucky and we should contribute in any way, shape and form”, according to PSCPE President Marleen Kaatee.
FAL Board Chair Espen Bunæs pointed out, “What a great opportunity, not just to hear more in detail about the excellent research going on at Rikshospitalet, but also for NoPSC, PSCPE and FAL to meet and learn more about each other and build a stronger relationship. Together, into the future horizons we will all work for better healthcare, more reliable information, learning and research”.
Biobank This is like ‘a library of human organisms’: it has a collection of various bio specimens, (e.g. blood, plasma, saliva, faeces and DNA), which are kept in a huge freezer or in gas or liquid nitrogen.
BMI Body Mass Index. A numerical computation based on height and weight, used as an indicator of the degree of obesity.
DNA A molecule that carries most of the genetic instructions used in development, functioning and reproduction of all known living organisms and many viruses.
FAL Forening for Autoimmune Leversykdommer, the Norwegian PSC, PBC and AIH patient organisation
Gene A region/part of DNA
IPSCSG International PSC Study Group
RNA Ribonucleic Acid: A molecule implicated in various biological roles in coding, decoding, regulation and expression of genes
The original (English) version of the above article has been checked and approved by Prof. Dr. Schrumpf.