Progress and challenges in diagnosis and treatment of rare diseases

doi:10.3969/j.issn.1673-8640.2023.02.001

Abstract

Abstract:

The diagnosis and treatment of rare diseases is one of the important challenges in the global medical field. In the recent years，with the rapid development of science and technology and the promulgation of relevant policies，great progress has been made in the field of diagnosis and treatment of rare diseases. This review focuses on the application of molecular diagnostic technology and the interpretation of genetic variation in the process of accurate diagnosis of rare diseases. It is carried out in combination with several reports in this special issue. It is hoped that this issue can provide a reference for the diagnosis and treatment of rare diseases.

Key words: Rare disease, Whole-exome sequencing, Molecular diagnosis, Genetic variation

CLC Number:

R446.1

YU Tingting, WANG Jian. Progress and challenges in diagnosis and treatment of rare diseases[J]. Laboratory Medicine, 2023, 38(2): 103-105.

References 14

[1]	RICHTER T, NESTLER-PARR S, BABELA R, et al. Rare disease terminology and definitions-a systematic global review:report of the ISPOR rare disease special interest group[J]. Value Health, 2015, 18(6):906-914. DOI URL
[2]	WRIGHT C F, FITZPATRICK D R, FIRTH H V. Paediatric genomics:diagnosing rare disease in children[J]. Nat Rev Genet, 2018, 19(5):253-268. DOI URL
[3]	YAO R, ZHANG C, YU T, et al. Evaluation of three read-depth based CNV detection tools using whole-exome sequencing data[J]. Mol Cytogenet, 2017, 10:30. DOI PMID
[4]	YANG Y, MUZNY D M, REID J G, et al. Clinical whole-exome sequencing for the diagnosis of mendelian disorders[J]. N Engl J Med, 2013, 369(16):1502-1511. DOI URL
[5]	YANG Y, MUZNY D M, XIA F, et al. Molecular findings among patients referred for clinical whole-exome sequencing[J]. JAMA, 2014, 312(18):1870-1879. DOI PMID
[6]	LEE H, DEIGNAN J L, DORRANI N, et al. Clinical exome sequencing for genetic identification of rare Mendelian disorders[J]. JAMA, 2014, 312(18):1880-1887. DOI PMID
[7]	RICHARDS S, AZIZ N, BALE S, et al. Standards and guidelines for the interpretation of sequence variants:a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology[J]. Genet Med, 2015, 17(5):405-424.
[8]	NIELSEN S V, STEIN A, DINITZEN A B, et al. Predicting the impact of Lynch syndrome-causing missense mutations from structural calculations[J]. PLoS Genet, 2017, 13(4):e1006739. DOI URL
[9]	ABILDGAARD A B, STEIN A, NIELSEN S V, et al. Computational and cellular studies reveal structural destabilization and degradation of MLH1 variants in Lynch syndrome[J]. Elife, 2019, 8:e49138. DOI URL
[10]	CASWELL R C, OWENS M M, GUNNING A C, et al. Using structural analysis In Silico to assess the impact of missense variants in MEN1[J]. J Endocr Soc, 2019, 3(12):2258-2275. DOI URL
[11]	HAICANG Z, MICHELLE S X, WENDY K C, et al. Predicting functional effect of missense variants using graph attention neural networks[J]. Nature Machine Intelligence, 2022, 4:1017-1028. DOI
[12]	WU Y, LIU H, LI R, et al. Improved pathogenicity prediction for rare human missense variants[J]. Am J Hum Genet, 2021, 108(12):2389. DOI PMID
[13]	KAUFMANN P, PARISER A R, AUSTIN C. From scientific discovery to treatments for rare diseases-the view from the National Center for Advancing Translational Sciences - Office of Rare Diseases Research[J]. Orphanet J Rare Dis, 2018, 13(1):196. DOI
[14]	SHEIKH O, YOKOTA T. Restoring protein expression in neuromuscular conditions:a review assessing the current state of exon skipping/inclusion and gene therapies for Duchenne muscular dystrophy and spinal muscular atrophy[J]. BioDrugs, 2021, 35(4):389-399. DOI