# Research Topic **Category:** [Clinical (archive)](https://discourse.openehr.org/c/clinical-archive/153) **Created:** 2010-11-10 23:40 UTC **Views:** 1 **Replies:** 11 **URL:** https://discourse.openehr.org/t/research-topic/15038 --- ## Post #1 by @Hasti_Ziaimatin Hi All, I’m a PhD student at the University of Queensland in Brisbane, Australia. I’m currently performing research, in collaboration with other members of the team, on creating an ontology for depicting a health information system model for a heterogeneous group of genetic disorders affecting skeletal development. I have recently come across openEHR archetypes. I have an interest in this area and would like to kindly ask for your help in finding a research topic which I may be able to relate to creating a knowledgebase to assist clinicians in capturing gene and protein information as well as help with the diagnosis of rare and unknown cases of these genetic Skeletal disorders. Semantic Web technologies will be used for creating this knowledge base. Thanks in advance. Hasti Ziaimatin --- ## Post #2 by @Connolly-Thompson_Ge Hi All, I’m a PhD student at the University of Queensland in Brisbane, Australia. I’m currently performing research, in collaboration with other members of the team, on creating an ontology for depicting a health information system model for a heterogeneous group of genetic disorders affecting skeletal development. I have recently come across openEHR archetypes. I have an interest in this area and would like to kindly ask for your help in finding a research topic which I may be able to relate to creating a knowledgebase to assist clinicians in capturing gene and protein information as well as help with the diagnosis of rare and unknown cases of these genetic Skeletal disorders. Semantic Web technologies will be used for creating this knowledge base. Thanks in advance. Hasti Ziaimatin --- ## Post #3 by @williamtfgoossen The HL7 community has created a message for genetic information exchange\. It does include a significant effort in modeling of the knowledge behind, a good starting point for the ontology\. Vriendelijke groet, William Goossen directeur Results 4 Care --- ## Post #4 by @Paria_Kashfi Hi HAsti, Are you talking about a knowledge\-based decision support? or the focus is only on creating a repository of disease cases? \-Pariya --- ## Post #5 by @ian.mcnicoll Hi William, I would agree that the current excellent work on genetic information by the HL7 community would be the best starting point\. An interesting project might be to see how the concepts identified in that work, can be best modelled in openEHR, making use of existing CKM archetypes wherever possible\. Ian Dr Ian McNicoll office / fax \+44\(0\)1536 414994 mobile \+44 \(0\)775 209 7859 skype ianmcnicoll ian\.mcnicoll@oceaninformatics\.com Clinical analyst, Ocean Informatics openEHR Clinical Knowledge Editor www\.openehr\.org/knowledge Honorary Senior Research Associate, CHIME, UCL BCS Primary Health Care SG Group www\.phcsg\.org --- ## Post #6 by @system Hello, We are involved in a small project for modelling genetic diagnosis reports and genetic variations with EN13606 archetypes. It has just started, but I hope we can have some results during the next months. David 2010/11/11 Ian McNicoll <[Ian.McNicoll@oceaninformatics.com](mailto:Ian.McNicoll@oceaninformatics.com)> --- ## Post #7 by @williamtfgoossen Ian I agree, and indeed, the word I meant was genetic, which lead to a type on generic. However, the care provision model is quite generic, but that was off discussion. A lot of the content might be useful in different formats, but the best is to have that consistent over standards and implementations.

Vriendelijke groet, William Goossen directeur Results 4 Care --- ## Post #8 by @Hasti_Ziaimatin Hi Pariya, Thank you for your reply. The project is aiming at creating a knowledge base for Skeletal Dysplasia which will also be used for decision support. Cheers, Hasti --- ## Post #9 by @Rikard_Lovstrom1 Hi Hasti, There is some maintained knowledge base for "rare disesases" in this area in Sweden. Our National Board of Health and Welfare has an expert group who maintains a database of around 250 rare diseases, of which some involves skeletal dysplasia. The board have also developed a generic model of information structure where you could put all the procedures being critical to these conditions. If connected to the precise context in the EHR system, proposed actions from the user (healthcare professional) could be warned of because of the evident or potential threat to the patient. Are there particular conditions you are interested in? Best regards, Rikard Lövström 2010/11/12 Hasti Ziaimatin <[h.ziaimatin@uq.edu.au](mailto:h.ziaimatin@uq.edu.au)> --- ## Post #10 by @Koray_Atalag Hi Hasti, others I had formerly done PhD work in genetics before switching to health informatics and still have great interest in this domain. I know that bio part of health informatics is well ahead of medical/clinical world and waiting for the EHR puzzle to be solved – or at least some more progress. The reason is simple: to unveil the genotypeóphenotype linkage which will certainly open a new era in Medicine. One person whom I suggest getting his advice would be Amnon Shabo from IBM at Haifa/Israel. He used to be on openEHR lists but I haven’t heard from him for long. Amnon has initiated and is currently leading the HL7 Clinical Genomics Special Interest Group and also co-editor of the CDA specification. [http://domino.research.ibm.com/comm/research_people.nsf/pages/shabo.index.html](http://domino.research.ibm.com/comm/research_people.nsf/pages/shabo.index.html) Cheers, -koray --- ## Post #11 by @Hasti_Ziaimatin Dear All, Thank you to everyone who replied to my post regarding Research Topic. Your assistance and guidance is greatly appreciated. Wish you all the best, Kind Regards, Hasti Ziaimatin --- ## Post #12 by @Paria_Kashfi Hi Hasti, I recommend you read at least Chapters 14 & 15 of this book: http://www.amazon.com/Clinical-Decision-Support-Road-Ahead/dp/0123693772 These chapters focus on the relation of existing standards\(including HL7, and openEHR\) to CDS, I found it helpful for my own research, and the more of this book you study the better ;\) Best Regards Pariya MSc; PhD Candidate Department of Computing Science and Engineering Chalmers University of Technology http://www.chalmers.se/cse/EN/people/kashfi-hajar --- **Canonical:** https://discourse.openehr.org/t/research-topic/15038 **Original content:** https://discourse.openehr.org/t/research-topic/15038