| Predicate |
Object |
| assignee |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_19851a88c57a567405297f5e3fa89880 |
| classificationCPCAdditional |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N2800-302
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N2800-104
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N2800-305
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N2800-285
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N2800-323
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N2800-304
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N2800-52
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N2800-60
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N2800-042
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N2800-2821
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B40-10 |
| classificationCPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B40-00
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B20-00
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N33-5079
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G06F19-28
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G06F19-24
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B40-20
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B50-00 |
| classificationIPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G01N33-50 |
| filingDate |
2018-06-29-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_f923db9a7b4efcbf8c167db3abaea4f8 |
| publicationDate |
2020-01-02-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber |
US-2020003762-A1 |
| titleOfInvention |
Diagnostics Platform for Mitochondrial Dysfunctions/Diseases |
| abstract |
The present invention concerns machine learning based methods and systems for diagnosing and treating genetic diseases characterized by mitochondrial dysfunctions. A library of reference learning models is developed based on in vitro reference samples obtained from cell-cultures exposed to specific mitochondrial inhibitors. Each model is able to predict a specific labeled mitochondrial dysfunction induced in the cell-culture by the inhibitor/stressor. The reference models are then applied to target samples drawn in vivo from target subjects who are known to have specific genetic mitochondrial diseases. A mapping is developed between mitochondrial dysfunctions predicted in the subjects and their known mitochondrial diseases. This mapping and the reference models are then applied to a clinical sample of an undiagnosed patient in whom a diagnosis of a mitochondrial dysfunction and an associated mitochondrial disease is made. If there is a known rescuer for the mitochondrial dysfunction, it may be recommended in a personalized, targeted therapy. |
| isCitedBy |
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/WO-2022145260-A1
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-11676221-B2 |
| priorityDate |
2018-06-29-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type |
http://data.epo.org/linked-data/def/patent/Publication |