(Vienna, 30.06.2021) A detailed vocabulary to identify and explore rare, congenital immune disorders around the world? That is exactly what is now available thanks to a new study led by the Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases in Vienna and the University Medical Center Groningen. Congenital immune disorders often affect only a handful of children around the world. The now published expansion of the nomenclature allows us to better analyze, identify, and treat these diseases.
When a child in Austria falls ill with a rare immunodeficiency, their treating physician will often like to know experience with similar cases around the world. Has there ever been such a case or a similar one before? What has been the experience with treatment of the other patient? But even if a child in – for example – Japan suffers from exactly the same disease, the treating physicians probably never get to know about each other. Researchers at the Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (LBI-RUD) strive to change that. “To identify and eventually treat children with rare diseases, there needs to be a global exchange between researchers and physicians. This exchange can only be successful if everyone speaks the same language, and describes diseases in a uniform way, and if local registries are internationally interconnected,” explains Kaan Boztug, Director at the LBI-RUD and Scientific Director of the St. Anna Children’s Cancer Research Institute.
You only find what you can name
Boztug’s research group at the LBI-RUD, together with the group of Marielle van Gijn, group leader at the University Medical Center Groningen, have therefore brought together relevant partners around the world and leading medical societies in the field of immune diseases including the European Society for Immunodeficiencies (ESID) and the European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune diseases (ERN-RITA) to further develop the so-called Human Phenotype Ontology (HPO). The HPO is a kind of language, providing a standardized vocabulary for clinical changes in the human body associated with individual diseases. ”We got in touch with Peter Robinson, who originally developed HPO, and for the first time systematically expanded the vocabulary to describe immunological diseases. We have described symptoms of rare, congenital immune disorders more precisely and in greater detail to enable uniform diagnoses worldwide,” says Matthias Haimel, co-first author of the study and bioinformatician in the research group of Christoph Bock at LBI-RUD and the CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences. “Until now, different terms have been applied in different countries for the same disease and its symptoms,” explains Julia Pazmandi, co-first author of the study and PhD student in Kaan Boztug’s research group. Kaan Boztug adds, “Only what you can name can be found. At the same time, an accurate description helps to discover new diseases and gene mutations.”
HPO includes 2,120 rare diseases, of which congenital immune disorders form a subgroup. For the latter, HPO has not been specific enough and therefore has hardly been used in the expert community. To change this, leading researchers and clinicians in the field have met regularly both in Vienna and virtually to revise and expand the terms of four disease groups relevant to congenital immune disorders within the HPO. New terms such as “recurrent fever” or “unusual infections” were added. To accomplish this, selected articles were analyzed for technical terms using machine learning, which were then assigned as correct or incorrect by experts in a review process.
Top 10 ranking narrows down the diagnosis
To showcase the efficiency of their expansion of HPO terms for immune defects, the researchers analyzed 30 patients from a database. HPO terms were assigned to disease entities and based on this, the similarity to all previously revised HPO diseases was calculated. In most cases, the correct diagnosis was found in the top 10 diseases calculated for each symptom. “Artificial intelligence now makes it easier to assign certain symptoms to a rare disease. It is impossible for doctors nowadays to know about every rare disease. Further, some immune disorders are very similar to each other. Patients could thus be spared years of searching for their correct diagnosis. In this way, treatment can be initiated earlier and the outcome may be improved”, says Boztug.
Matthias Haimel adds: “In our study, we use machine learning to narrow down the selection of possible diagnoses for patients and to retrieve the full spectrum of terms from the literature at the touch of a button. The same process could be applied to unstructured clinical notes. Abnormal clinical values in medical records could thus be automatically translated into HPO codes, promoting more accurate diagnosis.”
International Collaboration – The key to rare diseases
Identifying at least a few individuals worldwide suffering from the same disease is often critical to gain insight into typical manifestations. The now expanded and reannotated HPO terms allow for a better description of symptoms and enable the creation of an electronic disease profile. Efficiently sharing such anonymized disease profiles across institutions and borders is a major challenge. Platforms facilitating this are already being used by the LBI-RUD as part of the Undiagnosed Diseases Network International (UDNI) with the ultimate goal to cure patients with rare diseases.
The present work is based on an international collaboration, led by the LBI-RUD and the University Medical Center Groningen (The Netherlands), consisting of physicians, researchers, geneticists, and bioinformaticians. In total, more than 30 experts were involved over a period of two years. The project was conducted in collaboration with three of the world’s leading medical societies in the field of immune diseases, namely the European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune diseases (ERN-RITA), the European Society for Immunodeficiencies (ESID), and the International Society for Systemic Autoinflammatory Diseases (ISSAID).
About Human Phenotype Ontology
The Human Phenotype Ontology (HPO) includes a broad vocabulary to describe diseases and serves as a tool to communicate in the field of rare diseases. The HPO currently contains approximately 200,000 annotations to describe inheritable diseases, of which 2,120 are considered rare diseases. In the area of congenital immune disorders, clear and understandable descriptions have been lacking so far. Despite ongoing efforts, there are still crucial gaps in the HPO disease ontology to describe the entire clinical picture of rare immunological diseases.
About rare diseases
In Austria alone, approximately 400,000 people suffer from a rare disease. A disease is considered rare if it affects less than one in 2,000 people. Thus, although there is a large number of people suffering from a rare disease, there are only a few with the same specific disease. This leads to an enormous delay in the diagnosis and treatment of affected patients. If one wants to study rare diseases, a worldwide search for similar cases is necessary, which is often difficult.
Curation and Expansion of Human Phenotype Ontology for Defined Groups of Inborn Errors of Immunity
Matthias Haimel*, Julia Pazmandi*, Raúl Jiménez Heredia, Jasmin Dmytrus, Sevgi Köstel Bal, Samaneh Zoghi, Paul van Daele, Tracy A. Briggs, Carine Wouters, Brigitte Bader-Meunier, Florence A. Aeschlimann, Roberta Caorsi, Despina Eleftheriou, Esther Hoppenreijs, Elisabeth Salzer, Shahrzad Bakhtiar, Beata Derfalvi, Francesco Saettini, Maaike A. A. Kusters, Reem Elfeky, Johannes Trück, Jacques G. Rivière, Mirjam van der Burg, Marco Gattorno, Markus G. Seidel, Siobhan Burns, Klaus Warnatz, Fabian Hauck, Paul Brogan, Kimberly C. Gilmour, Catharina Schuetz, Anna Simon, Christoph Bock, Sophie Hambleton, Esther de Vries, Peter Robinson, Marielle van Gijn†#, Kaan Boztug†#
* and †, these authors contributed equally
# to whom correspondence should be addressed: Kaan Boztug, Marielle Van Gijn
J Allergy Clin Immunol 2021, Epub ahead of print
This study was supported by the European Research Council. Additional financial support for the workshops was granted by the Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (LBI-RUD), the European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune diseases (ERN-RITA), and the European Society for Immunodeficiencies (ESID).
About the Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (LBI-RUD)
LBI-RUD was founded in April 2016 in a joint effort of Ludwig Boltzmann Gesellschaft, CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Medical University of Vienna, and St. Anna Children’s Cancer Research Institute. The three founding partner institutions, and CeRUD Vienna Center for Rare and Undiagnosed Diseases, constitute LBI-RUD’s most important collaboration partners. Research at LBI-RUD focuses on the deciphering of rare immunological, hematopoietic, nervous, dermal, gastro-intestinal, and hepatic diseases. Those studies provide unique insights into human biology and are the basis for the development of tailored therapeutic concepts in the sense of the personalized medicine of the future. The mission of LBI-RUD is – together with its partner institutions – to sustainably develop and maintain research infrastructure integrating scientific, societal, ethical, and economical aspects of rare diseases. www.rare-diseases.at
About the St. Anna Children’s Cancer Research Institute, CCRI
St. Anna CCRI is an internationally renowned multidisciplinary research institution with the aim to develop and optimize diagnostic, prognostic, and therapeutic strategies for the treatment of children and adolescents with cancer. Closely collaborating with St. Anna Children’s Hospital and other institutions worldwide, St. Anna CCRI combines basic research with translational and clinical research and focuses on the specific characteristics of childhood tumor diseases in order to provide young patients with the best possible and most innovative therapies. Dedicated research groups in the fields of tumor genomics and epigenomics, immunology, molecular biology, cell biology, bioinformatics and clinical research are working together to harmonize scientific findings with the clinical needs of physicians to ultimately improve the wellbeing of our patients. Learn more: www.ccri.at & www.kinderkrebsforschung.at.
About the CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences
The mission of CeMM is to achieve maximum scientific innovation in molecular medicine to improve healthcare. At CeMM, an international and creative team of scientists and medical doctors pursues free-minded basic life science research in a large and vibrant hospital environment of outstanding medical tradition and practice. CeMM’s research is based on post-genomic technologies and focuses on societally important diseases, such as immune disorders and infections, cancer and metabolic disorders. CeMM operates in a unique mode of super-cooperation, connecting biology with medicine, experiments with computation, discovery with translation, and science with society and the arts. The goal of CeMM is to pioneer the science that nurtures the precise, personalized, predictive and preventive medicine of the future. CeMM trains a modern blend of biomedical scientists and is located at the campus of the General Hospital and the Medical University of Vienna.
About the Medical University of Vienna (MedUni Vienna)
MedUni Vienna is one of the most established medical education and research facilities in Europe, with a centuries-old tradition of excellence in medical research and clinical practices. With almost 8,000 students, it is the largest medical training center in the German-speaking countries. With its 30 university hospitals and two clinical institutes, 12 medical theory centers and numerous highly specialized laboratories, it is also one of Europe’s leading research institutions in the biomedical sector.
(Vienna, 30.06.2021) Msamiati wa kina wa kutambua na kuchunguza magonjwa ya kinga ya kuzaliwa ya nadra ulimwenguni kote? Utafiti huo ulifanywa na Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases huko Vienna na Chuo Kikuu cha Groningen. Mara nyingi magonjwa ya kinga ya kuzaliwa huathiri watoto wachache tu ulimwenguni pote. Upanuzi wa jina hilo ambao sasa umechapishwa unatuwezesha kuchanganua, kutambua, na kutibu magonjwa hayo kwa njia bora zaidi. Wakati mtoto katika Austria anakuwa mgonjwa na immunodeficiency nadra, daktari wao kutibu mara nyingi wanataka kujua uzoefu na kesi sawa duniani kote. Je, kumewahi kuwa na kisa kama hicho au kinachofanana nacho hapo awali? Ni nini kilichotokea kwa mgonjwa mwingine? Lakini hata kama mtoto katika <unk> kwa mfano <unk> Japan anaugua ugonjwa sawa kabisa, madaktari wa kutibu pengine kamwe kupata kujua kuhusu kila mmoja. Watafiti wa Taasisi ya Ludwig Boltzmann ya Magonjwa Nadra na Yasiyojulikana (LBI-RUD) wanajaribu kubadilisha hali hiyo. <unk>Kutambua na hatimaye kutibu watoto wenye magonjwa nadra, kuna haja ya kubadilishana kimataifa kati ya watafiti na madaktari. "Mabadiliko haya yanaweza kufanikiwa tu ikiwa kila mtu anazungumza lugha moja, na kuelezea magonjwa kwa njia moja, na ikiwa rekodi za ndani zimeunganishwa kimataifa, ""anaelezea Kaan Boztug, Mkurugenzi wa LBI-RUD na Mkurugenzi wa Sayansi wa Taasisi ya Utafiti wa Saratani ya Watoto ya St. Anna." Kwa hivyo, kikundi cha utafiti cha Buztuck na kikundi cha Marielle van Gijn, kiongozi wa kikundi katika Kituo cha Chuo Kikuu cha Matibabu cha Groningen, wamekusanya washirika muhimu ulimwenguni kote na mashirika ya matibabu yanayoongoza katika uwanja wa magonjwa ya kinga, pamoja na Jumuiya ya Ulaya ya Ukosefu wa Kinga (ESID) na Mtandao wa Marejeo wa Ulaya juu ya Ukosefu wa Kinga ya Kwanza, Autoinflammatory na Autoimmune (ERNIDA-R). "Hipocalypse ni aina ya lugha, kutoa ""sauti"" ya kawaida kwa ajili ya mabadiliko ya kliniki katika mwili wa binadamu kuhusishwa na magonjwa binafsi." "Pia, Peter Robinson, mwanzilishi wa HPO, aliandika ""Utafiti wa Utafiti wa Utafiti wa Utafiti wa Utafiti wa Utafiti wa Utafiti wa Utafiti wa Utafiti wa Utafiti wa Utafiti wa Utafiti wa Utafiti wa Utafiti wa Utafiti wa Utafiti wa Utafiti.""" "Tumeelezea dalili za magonjwa ya kinga ya kuzaliwa kwa usahihi zaidi na kwa undani zaidi ili kuwezesha utambuzi wa kawaida ulimwenguni kote, ""Mattias Haimel, mwandishi mwenza wa kwanza wa utafiti na mtaalamu wa bioinformatics katika kikundi cha utafiti cha Christoph Bock katika LBI-RUD na Kituo cha Utafiti cha CeMMC cha Tiba ya Molekuli ya Chuo cha Sayansi cha Austria." "Hata sasa, maneno tofauti yametumika katika nchi tofauti kwa ugonjwa huo na dalili zake", anaelezea Julia Pazmandi, mwandishi mwenza wa kwanza wa utafiti na mwanafunzi wa PhD katika kikundi cha utafiti cha Kaan Boztug. Kaan Boztug anaongeza, <unk>Ni kile tu unachoweza kutaja ambacho kinaweza kupatikana. "Hata hivyo, ""Hakuna dalili za ugonjwa wa kawaida"" na ""Hakuna dalili za ugonjwa wa kawaida"" ni pamoja na ""Hakuna dalili za ugonjwa wa kawaida"" na ""Hakuna dalili za ugonjwa wa kawaida"" na ""Hakuna dalili za ugonjwa wa kawaida"" na ""Hakuna dalili za ugonjwa wa kawaida.""" Kwa ajili ya mwisho, HPO haijawahi kuwa maalum vya kutosha na kwa hiyo haijawahi kutumika katika jamii ya wataalamu. Kwa hivyo, watafiti na wataalamu wa kliniki katika uwanja huu wamekutana mara kwa mara huko Vienna na karibu ili kurekebisha na kupanua maneno ya vikundi vinne vya magonjwa yanayohusiana na matatizo ya kinga ya kuzaliwa ndani ya HPO. Maneno mapya kama vile "homa ya mara kwa mara" au "maambukizo yasiyo ya kawaida" yaliongezwa. Ili kufikia lengo hili, makala zilizochaguliwa zilichambuliwa kwa maneno ya kiufundi kwa kutumia kujifunza mashine, ambayo kisha yalipewa kama sahihi au isiyo sahihi na wataalamu katika mchakato wa ukaguzi. Kwa mfano, katika utafiti wa kwanza wa utafiti wa HPV, watafiti walichunguza wagonjwa 30 kutoka kwa hifadhidata. Katika utafiti huo, majina ya ugonjwa wa HPV yalipewa majina ya magonjwa, na kulingana na hili, kufanana kwa magonjwa yote ya HPV yaliyobadilishwa hapo awali kulihesabiwa. Katika kesi nyingi, utambuzi sahihi ulipatikana katika magonjwa 10 ya juu yaliyohesabiwa kwa kila dalili. <unk>Ujasusi bandia sasa hufanya iwe rahisi kuunganisha dalili fulani kwa ugonjwa wa nadra. Ni vigumu kwa madaktari wa siku hizi kujua kuhusu kila ugonjwa usio wa kawaida. Isitoshe, magonjwa fulani ya kinga yanafanana sana. Hivyo wagonjwa wangeweza kuokolewa na miaka ya kutafuta utambuzi wao sahihi. Kwa njia hii, matibabu yanaweza kuanzishwa mapema na matokeo yanaweza kuboreshwa, "Boztug anasema. "Mathia Haimel anaongeza: ""Katika utafiti wetu, tunatumia kujifunza mashine kupunguza uteuzi wa utambuzi unaowezekana kwa wagonjwa na kupata wigo kamili wa maneno kutoka kwa fasihi kwa kugusa kitufe." Utaratibu huo huo ungeweza kutumiwa kwa maelezo ya kliniki yasiyo na muundo. "Kwa hivyo, viwango vya kliniki visivyo vya kawaida katika rekodi za matibabu vinaweza kutafsiriwa moja kwa moja katika nambari za HPO, kukuza utambuzi sahihi zaidi. ""Kifunguo cha magonjwa nadra"" Kutambua angalau watu wachache ulimwenguni kote wanaosumbuliwa na ugonjwa huo mara nyingi ni muhimu kupata ufahamu wa maonyesho ya kawaida." "Hizi ""HBO"" maneno sasa kupanuliwa na re-anotated kuruhusu maelezo bora ya dalili na kuwezesha uundaji wa elektroniki ugonjwa profile." Kushiriki kwa ufanisi maelezo kama hayo ya ugonjwa yasiyojulikana katika taasisi na mipaka ni changamoto kubwa. LBRI-RUD tayari inatumia majukwaa yanayowezesha hili kama sehemu ya Mtandao wa Magonjwa yasiyojulikana wa Kimataifa (UDNI) na lengo la mwisho la kuponya wagonjwa wenye magonjwa nadra. Utafiti huo ulifanywa kwa ushirikiano wa kimataifa ulioongozwa na LBI-RU na Kituo cha Chuo Kikuu cha Matibabu cha Groningen (Uholanzi), na unajumuisha madaktari, watafiti, wataalamu wa maumbile, na wataalamu wa bioinformatics. Kwa jumla, wataalamu zaidi ya 30 walihusika kwa kipindi cha miaka miwili. Mkutano huo ulifanyika kwa ushirikiano na mashirika matatu ya kimataifa ya afya ya afya, yaani, European Reference Network on Rare Primary Immunodeficiency, Autoimmune Diseases (ERN-RITA), European Society for Immunodeficiency (ESID) na International Society for Systemic Autoimmune Diseases (ISIDA). Ontolojia ya Phenotype ya Binadamu (HPO) ni lugha ya lugha ya lugha ya lugha ya lugha ya lugha ya lugha ya lugha ya lugha ya lugha ya lugha ya lugha ya lugha ya lugha ya lugha ya lugha ya lugha ya lugha ya lugha ya lugha ya lugha ya lugha ya lugha ya lugha ya lugha ya lugha ya lugha ya lugha ya lugha ya lugha ya lugha ya lugha ya lugha ya lugha ya lugha ya lugha ya lugha ya lugha ya lugha ya lugha ya lugha. Hifadhi ya HOPO ina maelezo ya karibu 200,000 ya kuelezea magonjwa ya urithi, ambayo 2,120 huchukuliwa kuwa magonjwa ya nadra. Katika eneo la magonjwa ya kinga ya kuzaliwa, maelezo wazi na yanayoeleweka yamekuwa yakikosa hadi sasa. Kwa sababu ya changamoto nyingi, kuna nafasi kubwa katika ontolojia ya ugonjwa wa HPV kuelezea picha nzima ya kliniki ya magonjwa ya immunological nadra. Katika nchi ya Austria, karibu watu 400,000 wanakabiliwa na magonjwa ya nadra. Ugonjwa fulani huonwa kuwa nadra ikiwa unakumba chini ya mtu mmoja kati ya watu 2,000. Kwa hiyo, ingawa kuna idadi kubwa ya watu wanaopatwa na ugonjwa usio wa kawaida, ni wachache tu walio na ugonjwa huo. Hii husababisha kucheleweshwa sana katika utambuzi na matibabu ya wagonjwa walioathiriwa. Ikiwa mtu anataka kujifunza magonjwa yasiyo ya kawaida, utafutaji wa ulimwenguni pote wa visa kama hivyo ni muhimu, ambayo mara nyingi ni ngumu. "Kutengenezwa na Kuongezeka kwa Ontolojia ya Fenotipi ya Binadamu kwa Vikundi vilivyofafanuliwa vya Makosa ya Ulinzi ya Ulinzi: Matthias Haimel, Julia Paz, Raul Jiménez-Heredia, Jasmine Dmythor, Sevigny Köstel, Samaneh Zoghe, Paul van Damme, Tracy A. Briggs, Carine Wouters, Brigitte Baader-Meier, Florence A. Aeschlimann, Roberta Caulthor, Esther Elspeth, Esther Salter, Elizabeth S. Huppert, Shahr Bakhtiyar, Beata Dervi, Francesca Saini, A. """ "Kusner, Reem Elfke, Johannes Truk, Jacques G. Riviere, Mirjam van der Burg, Marco Trotter, Markus G. Seidel, Siobhan Burns, Klaus Warnertz, Fabian Hauk, Paul Brogan, Kimberly C. Gilmour, Katharina Schuetz, Anna Simon, Christoph Bock, Sophie Hambleton, Esther de Vries, Peter Robinson, Marianne van Gijns, Kaan Turgot, Mark G. G. Schuessner, Mark C. Schuessner, na wengineo, walichangia kwa njia sawa: ""Jumla ya utafiti wa Ulaya ilitegemezwa na Baraza la Utafiti.""" Msaada wa ziada wa kifedha kwa ajili ya warsha hizo ulitolewa na Ludwig Boltzmann Taasisi ya Magonjwa Nadra na Undiagnosed (LBI-RUD), Ulaya Reference Network juu ya nadra ya msingi Immunodeficiency, Autoimmune na Autoimmune magonjwa (ERN-RIDA), na Ulaya Society kwa ajili ya Immunodeficiencies (ESID). Taasisi ya Ludwig Boltzmann ya Magonjwa Nadra na Yasiyojulikana (LBI-RUD) ilianzishwa mnamo Aprili 2016 na Ludwig Boltzmann Gesellschaft, Kituo cha Utafiti cha Tiba ya Molekuli cha Chuo Kikuu cha Sayansi cha Austria, Chuo Kikuu cha Tiba cha Vienna, na Taasisi ya Utafiti wa Saratani ya St. Anna. Taasisi tatu za mwanzilishi, na Kituo cha Vienna cha CeRUD cha Magonjwa Asiyo ya kawaida na Yasiyojulikana, ni washirika muhimu zaidi wa ushirikiano wa LBI-RUD. Utafiti katika LBI-RUD unazingatia kufasiri magonjwa ya nadra ya kinga, hematopoietic, neva, ngozi, gastrointestinal, na ini. Utafiti huo hutoa ufahamu wa kipekee katika biolojia ya binadamu na ni msingi wa maendeleo ya dhana za matibabu iliyoundwa kwa maana ya dawa ya kibinafsi ya siku zijazo. LBI-RUD ina jukumu la kuendeleza na kudumisha miundombinu ya utafiti inayojumuisha nyanja za kisayansi, kijamii, maadili na kiuchumi za magonjwa nadra. St. Anna Children's Cancer Research Institute (CCRI) ni taasisi ya kimataifa ya utafiti wa kitaaluma yenye lengo la kuendeleza na kuboresha mikakati ya utambuzi, utabiri, na matibabu kwa ajili ya matibabu ya watoto na vijana wenye kansa. Kwa kushirikiana kwa karibu na Hospitali ya Watoto ya St. Anna na taasisi zingine ulimwenguni kote, St. Anna CCRI inachanganya utafiti wa msingi na utafiti wa tafsiri na kliniki na inazingatia sifa maalum za magonjwa ya uvimbe wa utotoni ili kuwapa wagonjwa wachanga matibabu bora na ya ubunifu. Vikundi vya utafiti katika nyanja za genome na epigenome ya uvimbe, immunology, biolojia ya molekuli, biolojia ya seli, bioinformatics na utafiti wa kliniki vinafanya kazi pamoja ili kuunganisha matokeo ya kisayansi na mahitaji ya kliniki ya madaktari ili kuboresha ustawi wa wagonjwa wetu. Jifunze zaidi: www.cruise.org na www.cruise.org Kituo cha Utafiti cha CeMM cha Tiba ya Molekuli cha Chuo cha Sayansi cha Austria (AASM) ni kituo cha utafiti wa kisayansi cha Austria ambacho kinafanya kazi katika uwanja wa matibabu ya molekuli. Katika CeM, timu ya kimataifa na ubunifu ya wanasayansi na madaktari wa matibabu hufuata utafiti wa msingi wa sayansi ya maisha katika mazingira makubwa na yenye nguvu ya hospitali ya utamaduni na mazoezi ya matibabu bora. Utafiti wa CeM unategemea teknolojia za baada ya genomi na unazingatia magonjwa muhimu kwa jamii, kama vile matatizo ya kinga na maambukizo, kansa na matatizo ya kimetaboliki. CeMM inafanya kazi katika hali ya kipekee ya ushirikiano mkubwa, ikiunganisha biolojia na dawa, majaribio na hesabu, ugunduzi na tafsiri, na sayansi na jamii na sanaa. Lengo la CeM ni kuongoza sayansi ambayo inalisha dawa sahihi, ya kibinafsi, ya utabiri na ya kuzuia ya siku zijazo. Chuo cha Biomedical na Biomedical Sciences cha Vienna ni chuo kikuu cha Chuo Kikuu cha Biomedical na Biomedical cha Vienna. Chuo Kikuu cha Tiba cha Vienna (MUNIV) ni moja ya taasisi za elimu ya matibabu na utafiti zilizowekwa zaidi huko Ulaya, na utamaduni wa karne za ubora katika utafiti wa matibabu na mazoea ya kliniki. Chuo hicho kina wanafunzi karibu elfu nane na ndicho kituo kikubwa zaidi cha mafunzo ya kitiba katika nchi zinazozungumza Kijerumani. Pamoja na hospitali zake za chuo kikuu 30, taasisi mbili za kliniki, vituo 12 vya nadharia ya matibabu na maabara nyingi za kitaalam, pia ni moja ya taasisi za utafiti zinazoongoza Ulaya katika sekta ya biomedical.