Science
Sketch of an approach to use AI for identifying hidden (ultra-)rare disease patients in national healthcare records.
I was leading a global biomarker+genetic testing program aiming to identify hidden patients with Niemann-Pick type C, an ultra-rare and severe neuro-metabolic disease (prevalence 1:89’000, ~1’000 patients on treatment worldwide). The project included 44 countries, mostly in Europe, Latin America, Middle East and North Africa. We used a highly specific and sensitive biomarker, Lyso-SM-509, provided by the Centogene AG lab, who was also performing the analyses. We were able to identify >200 additional patients, achieving surprisingly high hit rate of 5 in 100, corresponding to 4 patients per month on average. Investment per patient identified was in the range of 5.2% of yearly treatment costs. CLIENT:Actelion Specialty Care Global Business Unit(as an Actelion employee and member of)PROJECT TIME FRAME: January 2014 – August…
I developed and provided a medical education program on MF-CTCL disease, supporting the launch of a new treatment product for the rare dermato-oncological disease. The program includes … CLIENT:Actelion Specialty Care Global Business Unit(as an Actelion employee and team member)PROJECT TIME FRAME: February – May…
The fact that the 2001 Nobel Price in Medicine has been awarded to three Yeast researchers should not lead to the wrong conclusion that the Nobel committee appreciated the fight against alcoholism or overweight. In fact without the tasty products of Brewers or Bakers Yeast (Saccharomyces cerevisiae) our lives would be much more healthy but – honestly – less nicer. Coming to the point, the award really recognizes the contributions of Leland Hartwell, Paul Nurse and Timothy Hunt to the understanding the control mechanisms of the cell cycle, the molecular cell division management system. I myself did research on cell cycle regulation in Yeast in the late ’90s. As a Yeast guy in an innovative scientific environment that deals with frogs, mice and human cell lines you were always seen as an eccentric – and somehow funny – specialist (and it has always been a challenge to explain that my experiments are not related to a Yeast contamination in the cell culture lab). Later I was glad to have the opportunity to cooperate and to discuss my results with Gustav Ammerer and Kim Nasmyth in Vienna, two other great Yeast geneticists. Brewers Yeast – for example – is a budding organism (that is why it is also called Budding Yeast). Daughter cells are formed by small buds growing at the Yeast cell surface. This closely resembles the division of mammalian cells resulting in two daughter cells, e.g.. The key issue for the cell cycle now is to synchronize DNA replication with cell growth and division. And vice versa, the DNA replication needs to be reliably inhibited in the case that there is no division. So, the cell cycle is a series of cell functions controlling the whole life span of one cell generation. It starts over and over again until cell aging or other mechanisms stop the propagation. If the cell cycle does not work correctly cells either stop division or have improperly copied chromosomes or propagate uncontrolled. In humans the latter is connected to cancer. Here the medical relevance of research with Yeasts like S. cerevisiae and Schizosaccharomyces pombe comes in. Yeasts as model organisms for the understanding of common functions in eukaryotic cells. Yeast cells as easy to cultivate mini labs offering research opportunities as regards fundamental cell activities that are too difficult to study in higher cells with their much more complex regulation networks. Well, if we have learned something about cell cycle regulation in Yeast during the past years then that it is even pretty complex in this very simple organism. Today we know a tight network of internal and external signals including the cell metabolism as well as the cytoskeleton. It looks like that there is not just a simple ‘clock’ but a whole system of communicating proteins with checkpoints and feedback loops. We can use these findings in Yeast to look for homologies and similarities in higher organisms. By comparing functionally known Yeast genes and proteins with the human genome and proteome we will be able to identify new research objectives as well as putative pharmaceutical targets. To my view this “Nobel Prize for Yeast” is an appreciation of the role of model organisms in modern biomedical science. Understanding them leads to a faster understanding of the molecular basics of cellular malfunctions in humans. As a Yeastman still carrying small buds in my heart I congratulate the Nobel committee on its decision. Originally published in November 2001 by Inside-Lifescience, ISSN…
Two weeks ago I participated in a strategy workshop organized by Arthur D. Little and the German Ministry for Education and Science (BMBF). As part of our talks we discussed the value of scientific information as well as the existing scientific information distribution and access structures. As two major problems we identified that scientists are not really aware of a variety of information resources they could access, and that publication and valuation processes will intensively change within the next years. To provide you with the corresponding background: the BMBF commissioned the management consultant Arthur D. Little and the ‘Gesellschaft für Innovationsforschung und Beratung’ to analyse the German WTI system (“wissenschaftlich-technische Information”) and to develop a strategy concept for the future of scientific and technical information. This study will be the basis of the future German federal government policy regarding specialist information. In a first step the consultants did a survey targeting 10.000 scientists working at universities or non-academic research institutions as well as 10.000 industry and service companies with an extensive use of information. In a second step the results and early recommendations are discussed by industry insiders and checked for their practicability. I myself was invited for one of this second level workshops that also included the directors of the three German special information centers, several representatives of university libraries, scientists, and others, overall a group of about 15 information specialists with a focus on scientific information. Giving you a very personal impression, to my opinion the information providers do not really know their client: the scientist working at the bench. During my time as ‘lab rat’ we did not really miss anything as regards information. We had a nice library, we had the internet, and the first internet databases for literature, sequences, etc. started these days. Additionally there has always been the possibility to ‘clone by phone’ or to get information via direct contacts in labs working at the same questions. Nobody told us about STN and other special information providers. And I think we would not have used it for two reasons: the costs (in the lab you have a regular budget for enzymes and pipette tips . but usually you have no true budget for information) and the missing knowledge regarding the retrieval languages (what student is educated in command languages like messenger, e.g.?). I am sure that this situation will change. I cannot tell you if this will happen within the next 5 years or within the next 15 years, but societies will learn that information itself has a value. Someone once even said that information is the gold of the 21st century. We already have a development within the western societies that people that have a privileged access to – for example – business information and are able to process it do have an advantage over their competitors. This is also valid for scientific information. But . the overall amount of scientific information is increasing logarithmically and the scientist needs more and more pre-selected information regarding his topics and questions. You cannot read all articles in all journals of your discipline AND do successful bench work. You only have 24 hours a day. And you do not really have the place for the growing stacks of publication copies on your desk (wouldn’t it fit your needs to have access to digitized copies?!). So far there is public structure that supports the bench scientist with these problems. So, we really have to think about improved information infrastructures for the scientific community. And we have to find a solution of the bivalent situation that on the one hand the public pays for science (and by this for the resulting scientific information), and on the other hand scientists have to pay for scientific information – respectively they or their libraries already do by their journal subscriptions. Perhaps we have to understand that not only the information but also information processing is worth to be paid, for example if you think about information pre-selection, journalistic ‘digestion’, services that help to be more focused, and publication providers. Revised version of the article “The value of information”, originally published in October 2001 by Inside-Lifescience, ISSN…
Journalists as well as politicians are desperately looking for lab results that nicely fit to a political ideology.
Traditionally an old years end is the time of reflections. No, I do not mean the bright glittering snow in some people winter holidays. I am talking about thoughts regarding the sense of life. Did I get the best out of the old year? Could I have done something better? What will be in the new year, what challenges and tasks are waiting for me? And what are my personal priorities in life? As a young PhD student – quite a few years ago – I read a Science article by Gregg Easterbrook about the social as well as ethical conflicts between science and religion. Surprisingly it did not pick out the inconsistency of both but their reconciliation as a central theme. During these days I have had many committed discussions as a scientist defending the evolutionary theory against creationists as well as defending my Christian faith against science believers. Yes, I am a Christian and a scientist (but not a “christian scientist”!). To my opinion there is no true incompatibility but just two sides of a single coin. And so I always found myself between the lines. Assumed there would really be incompatibility. Should it not be possible to have the sensibility to tolerate each others position? Should it not be possible to have the sensibility to accept that there are different levels of consciousness? Let us have a look to some of the battles fought in the US “bible belt” about what children should be taught in school, e.g.. Sorry for being honest but sometimes it seems to me like children from the kindergarden squabbling for their Lego. Who is going to tell them that they will have more fun and will be more successful when playing together? Telling you my point of view: science is giving the knowledge, faith – independent if Christian, Islamic, Hindu, Naturalistic, or whatever – is giving the sense. Both together create wisdom. In other words, science tells us how the world works, religion tells us for what the world works. One cannot without the other, or as Gregg Easterbrook used to say “they have linked destinies”. Originally published in January 2001 by Inside-Lifescience, ISSN…
Do you remember? Y2K had been announced as the great entry into the millennium of biotechnology! Did you get it? 2000 in biotechnology was planned as the year of the big conferences and meetings as well as the year of the phenomenal announcements. This should have been the grandiose prelude for an international campaign against the technique critics. But did anyone – besides scientists – really pay attention to all the efforts. Honestly: no. No, because this is how it should be _ or no, because we missed the chance to present our science to the people. If you picked the first “no”, there is nearly no reason to go on reading. But if you think that the scientific community missed a chance, then join my thoughts about how we could better the situation. Living in Central Europe we still face the situation that most non-scientists adore gene food and associate gene technology with Frankenstein. People will not buy daily products known to content genetically engineered compounds. We do have a really bad public opinion about gene technology. Is the reason for this situation really only ignorance and antagonism against all technological advancement? Or is it possible that the scientists themselves fail to promote their science? Who else should do it? What biotechnology and gene technology (who are used synonymously in this context) are missing is capital. This capital is coming from confidence. A confidence that results from the knowledge of the opportunities as well as from the hope for a better future. If the people do not rely on our biotechnology enterprise they will not invest any capital in it. That is what we can learn from a going public at the stock exchange. No confidence – no money, no money – no development. So, colleagues, let’s go public! Let’s use a language that everybody can understand when we talk about the science we love. Talk with the heart and not with the dictionary. Open your ears for the fears. Show the opportunities and advantages of biotechnology. Talk to the people and talk with the people. You are the ambassadors of our science! Originally published in November 2000 by Inside-Lifescience, ISSN…
Between 2000 and 2008, I investigated prior art, freedom-to-operate, infringement evidences and patent portfolios for reputable patent attorneys and life science industry clients, like Roche and BASF. In 2004, I ad-hoc joined a BASF due diligence team that was preparing a company buy-in as an external expert for analyzing the biosequences portfolio (assets) of the company planned to be acquired. I locally evaluated the IP relevance of the protein and DNA sequences offered, e.g. by checking for uniqueness and redundancies. I applied in-depth computer-based sequence analysis using algorithms like BLASTx, TBLASTx, FASTA, FASTM, Smith-Waterman, and ClustalW2. CLIENT:BASFPROJECT TIME FRAME: May…
