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…
SAMS (“Saccade Analysis Made Simple”) is an educational app for clinicians on the identification of specific impairments of eye movements (oculomotor test), and helps to earlier diagnose underlying neurological diseases. The tablet-based app guides through systematic qualitative measurements of various eye movements done locally by a physician or nurse. Simultaneously, the app records a video of the patient’s eye movements, and the physician subsequently has the opportunity to share selected recordings with a remote expert for his review. The expert’s feedback is supporting the local physician in developing his skills in the recognition of multiple potential neurological disorders known to be behind eye movement manifestations. As project management lead, I have been responsible for specifying user requirements, application risk management, aligning with legal department for having a compliant set-up, coordinating KOLs involved, the developing agency and caring field force, ensuring continuous improvement, and a scale-up to additional countries. CLIENT:Actelion Specialty Care Global Business Unit(as an employee and member of)PROJECT TIME FRAME: November 2015 – June 2016 (development)June 2016 – EO 2019 (active in…
The peer-review principle for scientific publications is a well established and sound approach to ensure publication quality … in theory. In real life it is regularly found to be leaky. This is a current example, reported by Retraction Watch
With a so-called “bibliographic search” you are looking for the abstract or full-text of a scientific publication. This means, you already have at least some citation information on the publication, like author name(s), publication year, title, journal name, volume#, issue#, and/or page#. There are some known traps and pitfalls with bibliographic searches, that I would like to share with you. 6 pitfalls for bibliographic searches … 1. Always assume a typo Generally assume typos in either the database record of the publication, or your notes, or the original publication. 2. Do not use special characters If the known publication title you would like to search for includes any special characters, like hyphens, colons, commas, semicolons, brackets, Greek symbols and so on and so forth, use only those parts of the title for your search which do not include any of those. Example:”Oral fingolimod (FTY720) in relapsing-remitting multiple sclerosis (RRMS): 2-Year αData efficacy results; the phase III FREEDOMS I trial”should be searched as”Oral fingolimod” AND “multiple sclerosis” AND “efficacy results” AND “phase III FREEDOMS I trial” However, some literature databases handle brackets, hyphens & co. quite well. When they are phrased. Example:”Oral fingolimod (FTY720) in relapsing-remitting multiple sclerosis (RRMS)” By the way. In literature databases non-Latin characters (Greek symbols e.g.) are normally translated to the corresponding Latin character (α -> a) or written out (α -> alpha). Similar for local characters, like the French accents (à, á, â) that most likely will be used just as “a”. 3. Do not trust publication titles Even if the known title of a publication can be the quickest way to identify the reference, always doubt it. If you do not find anything with it, it does not necessarily mean that the publication is not there. The source, where you have it from might have included an error, or there could be an accidental typo. Also think about the already mentioned different notations for Greek symbols, special characters, numbers (3, III, three) or abbreviations as well as differently use blanks, that are all potential variations resp. sources of mismatches. If you cannot pass on searching the title, the solution might be to not use the complete but just a fragment of it, which seems to be more valid (= less opportunities for variations) . Examples:”Oral fingolimod (FTY720) in relapsing-remitting multiple sclerosis (RRMS): 2-Year αData efficacy results; the phase III FREEDOMS I trial”could be searched in the title field as”Oral fingolimod (FTY720) in relapsing-remitting multiple sclerosis” 4. Use author’s last names only For “Jean-Paul Sartre” you would find the following alternative writings in scientific literature databases: Sometimes you find even in a single database notation variations of the same author’s name. So, the only stable and consistent values are the author’s last names. 5. Use sparse search values only If you know the full citation data, a search with the first authors last name, the publication year and the first page number alone in most cases will be sufficient and bears minimum risk only for mistakes and typos. Examples: 6. Avoid journal names Search for journal names only if there is no other opportunity to identify. But keep in mind that there might be variations of the journal name like “Proceedings of the National Association of Science”, “Proc Nat Assoc Sci”, and “PNAS”. Better limit by clearer values, like volume number, issue number, publication year, first page number … without using the journal name. So, and now just enjoy your next search! Try those 6 simple rules, and failure should be…
It is turning around … around … around … and around. Always the same turn, always the same things in view. With changing perspectives, but actually always at the same place. Sooner or later just boring. And once you overwind … well, mhh … might become unsavory. I exactly feel like sitting in such a carousel since I seriously entered the world of Knowledge Management (KM). I regularly find myself hanging around at places where people interested in good knowledge working meet virtually or physically, like KM blogs or meetings of like-minded colleagues. In any case, places where people with a greater awareness for the importance and value of Knowledge Management are, many of those knowing each other already for quite a while. “Knowledge workers”, “knowledge experts”, “knowledge managers”, “knowledge enthusiasts”, “knowledge evangelists”, gurus, consultants, etc. pp.. We then intensively discuss the meanings of terms, theoretical and innovative concepts, as well as why so many companies are such ignorant regarding the benefits of KM. Assumed that you are such a rational guy like me, you can glory in that, and without doubt you will meet a lot of interesting people. And normally all will agree, that they know how it works … or as it actually should work. And it’s true. We know how it could be done, efficiently and with maximum value for a company. But … it is completely for nothing! Well, yes, it always has been nice to talk to each other again. But finally with zero impact on real life. At the end all together spin around, and ever and anon the same people are having the same (philosophical) discussions. They feel comfortable with each other and don’t need anyone else. People know each other, appreciate each other, understand each other. Just to avoid any misunderstanding. The strategies and concepts developed and discussed by us “knowledge experts” are in general really good and trendsetting. They have the potential to substantially change and improve enterprise knowledge sharing. It is just never applied. Somehow none of all the good ideas and solutions becomes real, in a true implementation. I frankly do not understand so far what leads to failure, and I am thankful for any hint. By the way, this general tendency for parallel universe seems to be common with all “managements” (Information Management, Knowledge Management, Innovation Management, …). Perhaps a fraction of the problem is within the name already. As a first step I decided to have real life feasibility and implementation as my personal benchmark in the future. I say yes to hot air … if a turbine is driven by it. And I don’t really expect it to be the big strike, the complete new knowledge strategy within the company. I also accept minor steps and improvements, if they go into the right direction. And by the way, this fits to the latest crowd-intelligence-social-media-hype in Knowledge Management (which to my opinion is absolutely overrated … but that’s another story). One important thing with carousel rides is not to miss the right moment to get off and back on solid ground. Otherwise … as mentioned before, well mhhh…
In his today’s newspaper column Sebastian Turner 1, initiator of the Falling Walls Conference 2 (“leading thinkers at the intellectual frontier” ), writes about the lack of qualified professionals in Germany. As part of that he mentions studies done by Manfred Prenzel 3 from the Munich Technical University, that are worth to also be shared with the English-speaking knowledge community. While studying the German school system, Manfred Prenzel found that for 42% of the investigated students one year at school did not result in learning advancements. They had exactly the same knowledge and skills as 12 months before. Manfred Prenzel did dig deeper into it, esp. for the subject physics, and found even worse. Those students who had shown noticeable learning progress in physics during one year, unexpectedly and remarkably lost interest in this particular subject. In other words, those physics students who learned most also abandoned the field above average. Just the good school students turned away. This could be seen as the more knowledge is hammered into students heads, the more interest is hammer out. The scientists did some video analysis of the classes and finally realized that teachers nearly never spoke about why something has to be learned. Good students nevertheless learned … but only as long as they had to. Once they left school, motivation was gone, interest had been killed, finally resulting in a home-made lack of professionals (physicists, engineers e.g.). So, the drying out pipelines for young professionals in some fields of industry can also be a wake-up call to deal less with “dressage” and rouse more interest. Interest is the basic principle of knowledge, the driver to knowledge. 1 Original article by Sebastian Turner published in the German newspaper “Die Welt”: http://www.welt.de/print/die_welt/debatte/article13394902/Die-Fachkraefte-Mangel.html 2 Blog of the Falling Walls Conference: http://www.falling-walls.com/blog/en/ 3 Homepage of Manfred Prenzel at the Munich Technical University:…
Journalists are mediators. And they are translators. Take me as an example. It is my job as a scientific journalist to translate scientific contents to the public so that people can understand what things like “cloning” and “genetic engineering” are. And, well, I am trying my best and it truly is an advantage for me to be an educated molecular biologist. I do understand scientific subjects as well as the technical terminology of the biosciences. But what’s about my non-scientific colleagues? If a standard magazine journalists is in duty to write about – let’s say – Dolly the sheep, does he really have a chance to produce something meaningful? It is even hard for him to understand the details … and we expect a founded judgement. This colleague however is a translator to the public. Like a Chinese-English translator who never learned any Asian language and is working with a 1970 edition of a common dictionary (and avoid asking him for the Chinese signs). Taking this into account, can we really be surprised that the public opinion about biotechnology and gene technology is such bad in Europe. This also had been a major point at the “Biotech in Europe” session of the recent BIOTECHICA BUSINESS FORUM 2002 in Hanover, Germany. Speakers included Crispin Kirkman (BioIndustry Association, UK), Claude Hennion (France Biotech), Christian Suter (BioValley Basel, Switzerland), Rob Janssen (Netherlands’ Biotech Industry Association) and Hugo Schepens (EuropaBio). During the discussions Christian Suter mentioned that we are missing true science mediators in Europe. He quantified fruitful cooperation between journalists and scientists as lucky exceptions. And others added that there is a completely different communication culture in North America where scientists don’t worry about sitting in a TV shown and propagating their views to the public. I do agree. We are really missing true translators and mediators of our contents. Where are the colleagues that are able to help journalists to understand? Dear scientists, journalists desperately need you! Help them to translate. Go out, be present and be the bridges crossing the river between scientific knowledge and the society. In my view many American scientists are highly sensitized regarding their role and duty for public understanding that is the base of public opinion. European scientists are much more afraid of being in the limelight of the media. But – honestly spoken – to my opinion it is part of their (publicly financed) job. Why do so many European scientists avoid the public? Well, they never learned it. Being a public translator for scientific knowledge is not part of scientific education. Many researchers are just not able to translate. It is a matter of terms … and a matter of relevance. Let me explain what I do mean with the “matter of relevance”. A true scientist talking about the developments in research will never make an absolute statement, like “Newton’s apple will definitely never go upwards”. He is always qualifying and seeing things in relative terms, even when there is just a hypothetical 0.0001% chance for an alternative event. Perhaps, one day, Newton’s apple may go upwards. It does not matter if this is relevant or not, it always will be a possibility. This basic kind of thinking is a result of the scientific knowledge finding process’ structure, that is driven by thesis and antithesis. But for the average man or woman this “may be” is a sign of uncertainty, in the worst case interpreted as “there is something in it”. The 0.0001%-event has become a true and relevant option. Now, he is awaiting Newton’s apple to shoot up to the stratosphere, exploding there and finally destroying earth’s ozone shield. As a conclusion, scientists have to learn to reduce, to focus and to rate various options for relevance. People want clear answers, simple explanations and meaningful statements. Now, let’s talk about the “matter of terms”. Scientists and non-scientists are often using the same words but do speak different languages. Many scientific terms have a different meaning or an additional interpretation for average persons they have not for a scientist. The result is that both are speaking to each other but there is no true communication. Take the word “sex” as an example. If a scientist is using the word “sex” he usually is thinking about the gender of the organism he is working with – but most non-scientists at first are thinking about something completely different. Another good example would be the word “glauben” that in the German language is used for “to my opinion” as well as for “to believe”. So if biotech managers “glauben” that gene technology is safe, is it their opinion or is it their believe? But let us focus even more towards “genetic engineering” and “gene technology”. For me the German translation “Gentechnik” has no weight. In my understanding the word stands for a scientific method, a lab application. It is not good or bad, it just is. But for an average German citizen “Gentechnik” has an expanded content, it has a negative meaning, it is a bad word, it is used like talking about devil’s kiss. Now imagine a molecular biologist and a politician having a discussion about gene technology. They are talking together … but finally there is no communication. You can observe it on any program running on an European TV station. Where are all these communication and public relation agencies serving the Life Science industries? What have they done during the past years? Well, at least they have lost an important battle. They lost the battle for sovereignty over words. And I suppose that they lost because many of them did not really understand the things they were fighting for. If you want your public relations work being successful within the fields of Life Science and biotechnology it is much more important compared to any other branch of business that you have an in-depth-knowledge about the contents. Biotechnology and gene technology cannot be treated like others. You really have to understand the technologies you are trying to promote. You really have to know the key words and their true meaning as well as their interpretation by interest groups. And never forget that these words and expressions can have various meanings depending on who is using them! But where is the way out of the dilemma? Very simple: strike back! Use the words in their true meaning. Use them ‘normalized’. And do not use them only on podium discussions but in your daily live. Speak about biotechnology with your family. Speak about biotechnology with your friends. Speak about biotechnology with your colleagues and business partners. Speak about biotechnology with your children and with their teachers. Speak about biotechnology at your breakfast table and at your barber. Speak about biotechnology with your doctor and with his nurse. Speak about biotechnology as it would be the most normal thing in the world. One day it will be. Win back the sovereignty over words! Now! Revised version of the article “Let’s talk about Sex”, originally published in December 2002 by Inside-Lifescience, ISSN…
