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Логотип заголовку сторінки

Медичні науки та громадське здоров’я

December 22, 2023; Boston, USA: V Міжнародна науково-практична конференція «SCIENTIFIC PRACTICE: MODERN AND CLASSICAL RESEARCH METHODS»


EVALUATING FACE2GENE AS A TOOL FOR PHENOTYPICAL IDENTIFICATION OF GENETIC PATHOLOGY ON THE EXAMPLE OF KBG SYNDROME


DOI
https://doi.org/10.36074/logos-22.12.2023.098
Опубліковано
05.01.2024

Анотація

Introduction. Approximately 4% of the world's population develops orphan diseases. The vast majority of them have a genetic origin. The main method for studying the semiotics of genetic pathology is syndromic analysis. However, implementation requires a lot of experience and is often subjective. In addition, there are not enough trained clinical geneticists, so the waiting time for an appointment is long. That is why the use of computer programs in the work of a doctor allows for the diagnosis of rare hereditary disorders. Modern computer phenotype identification technology analyses images of people's faces with the help of a program created on the basis of artificial intelligence. The application "Face2Gene" (FDNA Inc., USA) creates a list of genetic pathologies that, in its opinion, the patient may have. Thus, it allows the geneticist to carry out the diagnosis of hereditary pathology much more effectively.

Посилання

  1. Gurovich Y, Hanani Y, Bar O, Nadav G, Fleischer N, Gelbman D, et al. Виявлення фенотипів обличчя генетичних розладів за допомогою глибокого навчання. Nat Med. 2019 рік; 25 :60–4. doi: 10.1038/s41591-018-0279-0. [ PubMed ] [ CrossRef ] [ Google Scholar ]
  2. The KBG syndrome-a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies Birth Defects Orig. Artic. Ser., 11 (1975), pp. 7-18.
  3. P.A. Dowling, P. Fleming, R.J. Gorlin, M. King, N.C. Nevin, M. McEntagart The KBG syndrome, characteristic dental findings: A case report Int. J. Paediatr. Dent., 11 (2001), pp. 131-134.
  4. Guo L, Park J, Yi E, Marchi E, Hsieh TC, Kibalnyk Y, Moreno-Sáez Y, Biskup S, Puk O, Beger C, Li Q, Wang K, Voronova A, Krawitz PM, Lyon GJ. KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients. Eur J Hum Genet. 2022 Nov;30(11):1244-1254. doi: 10.1038/s41431-022-01171-1. Epub 2022 Aug 15. PMID: 35970914; PMCID: PMC9626563.
  5. Ockeloen CW, Willemsen MH, de Munnik S, van Bon BWM, de Leeuw N, Verrips A, et al. Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations. Eur J Hum Genet. 2015;23:1176–85. doi: 10.1038/ejhg.2014.253. [PMC free article] [PubMed] [CrossRef] [Google Scholar]
  6. Satterstrom FK, Kosmicki JA, Wang J, Breen MS, De Rubeis S, An J-Y, et al. Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism. Cell. 2020;180:568–584.e23. doi: 10.1016/j.cell.2019.12.036. [PMC free article] [PubMed] [CrossRef] [Google Scholar]
  7. Azmy DJ, Qualia CM. Review of abdominal migraine in children. Gastroenterol Hepatol. 2020;16:632–9. [PMC free article] [PubMed] [Google Scholar]
  8. Brancati F, D’Avanzo MG, Digilio MC, Sarkozy A, Biondi M, De Brasi D, et al. KBG syndrome in a cohort of Italian patients. Am J Med Genet A. 2004;131:144–9. doi: 10.1002/ajmg.a.30292. [PubMed] [CrossRef] [Google Scholar]