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Ignacio Medrano Mendelian crdn summit 2017
This document summarizes a presentation about Mendelian, a company that uses artificial intelligence to help diagnose rare diseases. Mendelian analyzes patients' phenotypes and returns differential diagnoses and the top potential diseases in real-time. The presentation describes a case study where Mendelian correctly diagnosed a patient based on their clinical features. It also discusses Mendelian's goals of improving diagnosis rates for rare diseases by streamlining the diagnosis process, aggregating clinical data, and reducing the need for multiple specialist referrals and tests. Finally, it provides an overview of Mendelian's progress since its founding in 2015 and calls for collaboration to further its mission.
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Ignacio Medrano Mendelian crdn summit 2017
- 1. CRDN Summit –23rd October 2017 Dr Ignacio Hernández Medrano mendelian.co
- 2. GENOTYPE OUT Mendelian streamlinesthe rare disease diagnosis process mendelian PHENOTYPE IN
- 3. ➔ Macrocephaly ➔ Hypertelorism ➔Low set ears ➔ Glabellar hemangioma ➔ Capillary hemangiomas ➔ Ventricular septal defect Example Patient: UDN Participant 5 Patient Phenotypes Gender: Male Age: 8yrs
- 4. ➔ Sotos syndrome ➔PTEN-related condition ➔ Simpson-Golabi-Behmel ➔ Beckwith-Wiedemann ➔ Microdeletion/duplication ➔ Fragile X syndrome ➔ Noonan and Costello Example Patient: UDN Participant 5 Patient Differential Diagnosis Gender: Male Age: 8yrs
- 5. TRY IT HERE:https://app.mendelian.co
- 6. Search for patient’ssigns using our smart index of clinical features
- 7. Search for patient’ssigns using our smart index of clinical features Semantic relationships are inferred from our refined ontology
- 8. Search for patient’ssigns using our smart index of clinical features Semantic relationships are inferred from our refined ontology All the diseases in our database are ranked and the top diseases are returned in real-time
- 21. UDN Participant 5 ASXL1- x.2424delC - p.P808fs UDN Diagnosis Gender: Male Age: 8yrs
- 24. UDN Participant 5 Gender: Male Age: 8yrs Allof these signs were present at birth! ➔ Macrocephaly ➔ Hypertelorism ➔ Low set ears ➔ Glabellar hemangioma ➔ Capillary hemangiomas ➔ Ventricular septal defect Patient Phenotypes
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- 26. OPEN DATA Aggregate Existing TheMendelian Engine Central Normalised Repository
- 27. OPEN DATA Aggregate Existing CLINICALDATA Collect Clinical The Mendelian Engine Central Normalised Repository Empirical Data Sources
- 28. OPEN DATA Aggregate Existing CLINICALDATA NEW UNPUBLISHED DATA Predict UndiscoveredCollect Clinical The Mendelian Engine Central Normalised Repository Semantic Search Engine Empirical Data Sources
- 29. Benchmarking on 850existing diagnosed clinical cases
- 30. Benchmarking on 850existing diagnosed clinical cases
- 31. Constantly improving ouraccuracy Unique Data Points in Millions Best competitor accuracy 0.5 0.5 2 2.2 2.7 4.6 4.7 5 7.1
- 33. Specialist referrals, investigations…. Morereferrals, more investigations UNAWARE AWARE DIAGNOSED MISDIAGNOSEDDIAGNOSTIC SEARCH TREATMENT The Rare Disease Patient Journey
- 34. The Rare DiseasePatient Journey UNAWARE AWARE DIAGNOSED
- 35. The Rare DiseasePatient Journey UNAWARE AWARE DIAGNOSED Geneticists and Specialists Primary Care Secondary & Tertiary Care General Practitioners
- 36. The Rare DiseasePatient Journey UNAWARE AWARE DIAGNOSED DIFFERENTIAL DIAGNOSIS Geneticists and Specialists Primary Care Secondary & Tertiary Care General Practitioners
- 37. The Rare DiseasePatient Journey DIFFERENTIAL DIAGNOSIS UNAWARE AWARE DIAGNOSED GENES VARIANTS INVESTIGATION Geneticists and Specialists Primary Care Secondary & Tertiary Care General Practitioners
- 38. The Rare DiseasePatient Journey DIFFERENTIAL DIAGNOSIS UNAWARE AWARE DIAGNOSED GENES & VARIANTS INVESTIGATION Geneticists and Specialists Primary Care Secondary & Tertiary Care General Practitioners
- 39. The Rare DiseasePatient Journey DIFFERENTIAL DIAGNOSIS UNAWARE AWARE DIAGNOSED GENES & VARIANTS INVESTIGATION RARE DISEASE ALERTS Geneticists and Specialists Primary Care Secondary & Tertiary Care General Practitioners
- 40. Geneticists and Specialists PrimaryCare Secondary & Tertiary Care The Rare Disease Patient Journey DIFFERENTIAL DIAGNOSIS General Practitioners GENES & VARIANTS INVESTIGATION RARE DISEASE ALERTS UNAWARE AWARE DIAGNOSED
- 41. Where he havecome, and where we are going Mendelian Startup was set up in 2015 App into beta testing in 2016 App opened for free online in early 2017 And now has thousands of monthly users from around the world More to come
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