Medical care of rare and undiagnosed diseases: Prospects and challenges
Rare and undiagnosed diseases tend to be diverse, misdiagnosed, and difficult to diagnose. In some cases, the disease is progressive and life-threatening. Yet, to date, an estimated 95% of rare diseases have no approved therapy. Therefore, rare and undiagnosed diseases are considered the ultimate ch...
Saved in:
| Published in | Fundamental research (Beijing) Vol. 2; no. 6; pp. 851 - 858 |
|---|---|
| Main Authors | , , , , |
| Format | Journal Article |
| Language | English |
| Published |
China
Elsevier B.V
01.11.2022
KeAi Publishing KeAi Communications Co. Ltd |
| Subjects | |
| Online Access | Get full text |
Cover
Loading…
| Abstract | Rare and undiagnosed diseases tend to be diverse, misdiagnosed, and difficult to diagnose. In some cases, the disease is progressive and life-threatening. Yet, to date, an estimated 95% of rare diseases have no approved therapy. Therefore, rare and undiagnosed diseases are considered the ultimate challenges for understanding human diseases. Here, we review the research progress, research frontiers, and important scientific issues related to rare and undiagnosed diseases. We mainly focus on five topics: (1) the identification and functional analysis of disease-causing genes; (2) the construction of cells, organoids, and animal models for mechanism validation; (3) subtyping and diagnosis; (4) treatment and drug screening based on causative genes and mutations; and (5) new technologies and methods for studying rare and undiagnosed diseases. In this review, we briefly update and discuss the pathogenic mechanisms and precision medicine for rare and undiagnosed diseases. |
|---|---|
| AbstractList | Rare and undiagnosed diseases tend to be diverse, misdiagnosed, and difficult to diagnose. In some cases, the disease is progressive and life-threatening. Yet, to date, an estimated 95% of rare diseases have no approved therapy. Therefore, rare and undiagnosed diseases are considered the ultimate challenges for understanding human diseases. Here, we review the research progress, research frontiers, and important scientific issues related to rare and undiagnosed diseases. We mainly focus on five topics: (1) the identification and functional analysis of disease-causing genes; (2) the construction of cells, organoids, and animal models for mechanism validation; (3) subtyping and diagnosis; (4) treatment and drug screening based on causative genes and mutations; and (5) new technologies and methods for studying rare and undiagnosed diseases. In this review, we briefly update and discuss the pathogenic mechanisms and precision medicine for rare and undiagnosed diseases. Rare and undiagnosed diseases tend to be diverse, misdiagnosed, and difficult to diagnose. In some cases, the disease is progressive and life-threatening. Yet, to date, an estimated 95% of rare diseases have no approved therapy. Therefore, rare and undiagnosed diseases are considered the ultimate challenges for understanding human diseases. Here, we review the research progress, research frontiers, and important scientific issues related to rare and undiagnosed diseases. We mainly focus on five topics: (1) the identification and functional analysis of disease-causing genes; (2) the construction of cells, organoids, and animal models for mechanism validation; (3) subtyping and diagnosis; (4) treatment and drug screening based on causative genes and mutations; and (5) new technologies and methods for studying rare and undiagnosed diseases. In this review, we briefly update and discuss the pathogenic mechanisms and precision medicine for rare and undiagnosed diseases.Rare and undiagnosed diseases tend to be diverse, misdiagnosed, and difficult to diagnose. In some cases, the disease is progressive and life-threatening. Yet, to date, an estimated 95% of rare diseases have no approved therapy. Therefore, rare and undiagnosed diseases are considered the ultimate challenges for understanding human diseases. Here, we review the research progress, research frontiers, and important scientific issues related to rare and undiagnosed diseases. We mainly focus on five topics: (1) the identification and functional analysis of disease-causing genes; (2) the construction of cells, organoids, and animal models for mechanism validation; (3) subtyping and diagnosis; (4) treatment and drug screening based on causative genes and mutations; and (5) new technologies and methods for studying rare and undiagnosed diseases. In this review, we briefly update and discuss the pathogenic mechanisms and precision medicine for rare and undiagnosed diseases. |
| Author | Ding, Lijun Zhu, Caiyun Hong, Wei Sun, Ruijuan Shan, Zhiyan |
| Author_xml | – sequence: 1 givenname: Zhiyan surname: Shan fullname: Shan, Zhiyan organization: Department of Health Sciences, National Natural Science Foundation of China, Beijing 100085, China – sequence: 2 givenname: Lijun surname: Ding fullname: Ding, Lijun organization: Department of Health Sciences, National Natural Science Foundation of China, Beijing 100085, China – sequence: 3 givenname: Caiyun orcidid: 0000-0003-4405-0889 surname: Zhu fullname: Zhu, Caiyun organization: State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing 100005, China – sequence: 4 givenname: Ruijuan surname: Sun fullname: Sun, Ruijuan email: sunrj@nsfc.gov.cn organization: Department of Health Sciences, National Natural Science Foundation of China, Beijing 100085, China – sequence: 5 givenname: Wei surname: Hong fullname: Hong, Wei email: hongwei@nsfc.gov.cn organization: Department of Health Sciences, National Natural Science Foundation of China, Beijing 100085, China |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/38933390$$D View this record in MEDLINE/PubMed |
| BookMark | eNp9kk1vEzEQhi1UREvpH-CA9sgliz-y_kBICFVQKhXBAc7WxB6njjZ2sDeV-Pd4mxa1HHoaazzv-1rz-CU5SjkhIa8Z7Rll8t2mD9uCPaec91T3lOln5IRLqRaCD_rowfmYnNW6oZRyzZgQ_AU5FtoIIQw9IRff0EcHY-egYJdDV-YKyXf75COsU67oOx8rQsX6vvtRct2hm-rtjLuGccS0xvqKPA8wVjy7q6fk15fPP8-_Lq6-X1yef7pauIHzaQGSeqmlDzoIJZaCYhhgcAZDa6MxEFZ0QNAKkQUjnDBegQbBhWEBwYhTcnnw9Rk2dlfiFsofmyHa20Yuawtlim5EC84ruqIqMO6XnGujxcCll9JI7Veom9fHg9duv9qid5imAuMj08c3KV7bdb6xjDGjlJgd3t45lPx7j3Wy21gdjiMkzPtqBVVt6UvJ54e_eRj2L-UeRRvQhwHXVlwLBuviBFPMc3YcLaN2Bm83dgZvZ_CWatvANyn_T3rv_qTow0GEDddNxGKri5hc-w-lAW77jE_J_wKENcch |
| CitedBy_id | crossref_primary_10_1177_21501319241311567 crossref_primary_10_1016_j_fmre_2023_04_012 crossref_primary_10_1093_qjmed_hcae038 |
| Cites_doi | 10.1136/bmj.g6802 10.1038/nature21062 10.1183/13993003.01609-2018 10.1038/s41467-021-24776-4 10.1001/jamacardio.2020.0479 10.1016/j.drudis.2017.11.002 10.1093/hmg/ddz283 10.1016/j.tips.2020.04.005 10.1056/NEJMoa1306555 10.1126/scitranslmed.3010076 10.1016/j.ajhg.2019.03.008 10.15252/emmm.201911303 10.1101/gr.173427.114 10.1038/s41591-019-0457-8 10.1038/s41586-021-03609-w 10.1126/scitranslmed.aal5209 10.1038/s41586-020-2434-2 10.1038/nature09879 10.1016/j.biotechadv.2019.04.012 10.1016/j.cell.2021.03.050 10.1038/s41588-018-0294-6 10.1038/s41586-021-03534-y 10.1186/2001-1326-3-16 10.1146/annurev-anchem-091620-091314 10.1093/nsr/nwy162 10.1126/scitranslmed.aav8731 10.1038/s41588-019-0420-0 10.1007/s11427-017-9057-2 10.1038/s41392-022-01016-9 10.1038/srep00342 10.1016/j.cell.2016.10.031 10.1038/s41422-021-00532-7 10.1038/s41592-020-01005-2 10.1007/s00726-016-2265-5 10.1126/sciadv.abj0624 10.1016/j.ajhg.2012.02.006 10.1016/j.jid.2020.11.036 10.1016/j.cell.2017.04.035 10.1038/nature20134 10.1016/j.cell.2012.04.002 10.1038/s41422-019-0243-7 10.1038/nrg.2018.4 10.1038/s41392-019-0044-y 10.1080/15548627.2019.1688556 10.1002/jbmr.3878 10.1038/ng.1077 10.1001/jama.2014.14601 10.1056/NEJMoa2035790 10.1093/cercor/bhab166 10.1038/s41467-018-07827-1 10.1038/nature08250 10.1007/s13238-016-0244-y 10.1186/s13059-019-1620-8 10.1038/s41421-018-0069-3 10.1038/s41422-020-0276-y 10.1056/NEJMoa1708538 10.1146/annurev-bioeng-071813-104938 10.1093/brain/awq323 10.1164/rccm.201611-2273LE 10.1136/jmg.2003.012153 10.1038/s41467-018-03024-2 10.1134/S0006297914130021 10.1038/s41593-021-00906-5 10.1038/s41422-019-0264-2 10.1038/306234a0 10.1038/3845 10.1038/s41467-021-21790-4 10.1038/nm.3793 10.1126/sciadv.aba2470 10.1016/j.ymthe.2020.12.007 10.1016/j.ccell.2020.08.002 10.1126/science.aat8127 10.1001/jama.2014.14604 10.1038/s41581-019-0129-4 |
| ContentType | Journal Article |
| Copyright | 2022 2022 The Authors. Publishing Services by Elsevier B.V. on behalf of KeAi Communications Co. Ltd. 2022 The Authors. Publishing Services by Elsevier B.V. on behalf of KeAi Communications Co. Ltd. 2022 |
| Copyright_xml | – notice: 2022 – notice: 2022 The Authors. Publishing Services by Elsevier B.V. on behalf of KeAi Communications Co. Ltd. – notice: 2022 The Authors. Publishing Services by Elsevier B.V. on behalf of KeAi Communications Co. Ltd. 2022 |
| DBID | 6I. AAFTH AAYXX CITATION NPM 7X8 5PM DOA |
| DOI | 10.1016/j.fmre.2022.08.018 |
| DatabaseName | ScienceDirect Open Access Titles Elsevier:ScienceDirect:Open Access CrossRef PubMed MEDLINE - Academic PubMed Central (Full Participant titles) DOAJ Directory of Open Access Journals |
| DatabaseTitle | CrossRef PubMed MEDLINE - Academic |
| DatabaseTitleList | PubMed MEDLINE - Academic |
| Database_xml | – sequence: 1 dbid: DOA name: DOAJ Directory of Open Access Journals url: https://www.doaj.org/ sourceTypes: Open Website – sequence: 2 dbid: NPM name: PubMed url: https://proxy.k.utb.cz/login?url=http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed sourceTypes: Index Database |
| DeliveryMethod | fulltext_linktorsrc |
| Discipline | Sciences (General) |
| EISSN | 2667-3258 |
| EndPage | 858 |
| ExternalDocumentID | oai_doaj_org_article_acd70b07f12d4228983526d66968dbe8 PMC11197738 38933390 10_1016_j_fmre_2022_08_018 S2667325822003594 |
| Genre | Journal Article Review |
| GroupedDBID | 6I. AAEDW AAFTH AAXUO AEXQZ ALMA_UNASSIGNED_HOLDINGS AMRAJ EBS FDB GROUPED_DOAJ ROL 0R~ AALRI AAYWO AAYXX ABDBF ACVFH ADCNI ADVLN AEUPX AFPUW AIGII AITUG AKBMS AKRWK AKYEP CITATION M~E OK1 PGMZT RPM NPM 7X8 5PM |
| ID | FETCH-LOGICAL-c522t-a60d686df8f373430ef5a5c9efd68e99afb05ea87ee1f93c39d7a8a32391fea93 |
| IEDL.DBID | DOA |
| ISSN | 2667-3258 2096-9457 |
| IngestDate | Wed Aug 27 01:26:21 EDT 2025 Thu Aug 21 18:32:59 EDT 2025 Fri Jul 11 09:41:43 EDT 2025 Thu Jan 02 22:37:28 EST 2025 Tue Jul 01 01:56:16 EDT 2025 Thu Apr 24 23:10:35 EDT 2025 Fri Feb 23 02:39:07 EST 2024 |
| IsDoiOpenAccess | true |
| IsOpenAccess | true |
| IsPeerReviewed | true |
| IsScholarly | true |
| Issue | 6 |
| Keywords | Animal model Therapy Undiagnosed disease Diagnosis Gene Rare disease |
| Language | English |
| License | This is an open access article under the CC BY-NC-ND license. 2022 The Authors. Publishing Services by Elsevier B.V. on behalf of KeAi Communications Co. Ltd. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
| LinkModel | DirectLink |
| MergedId | FETCHMERGED-LOGICAL-c522t-a60d686df8f373430ef5a5c9efd68e99afb05ea87ee1f93c39d7a8a32391fea93 |
| Notes | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 ObjectType-Review-3 content type line 23 |
| ORCID | 0000-0003-4405-0889 |
| OpenAccessLink | https://doaj.org/article/acd70b07f12d4228983526d66968dbe8 |
| PMID | 38933390 |
| PQID | 3072814629 |
| PQPubID | 23479 |
| PageCount | 8 |
| ParticipantIDs | doaj_primary_oai_doaj_org_article_acd70b07f12d4228983526d66968dbe8 pubmedcentral_primary_oai_pubmedcentral_nih_gov_11197738 proquest_miscellaneous_3072814629 pubmed_primary_38933390 crossref_citationtrail_10_1016_j_fmre_2022_08_018 crossref_primary_10_1016_j_fmre_2022_08_018 elsevier_sciencedirect_doi_10_1016_j_fmre_2022_08_018 |
| ProviderPackageCode | CITATION AAYXX |
| PublicationCentury | 2000 |
| PublicationDate | 2022-11-01 |
| PublicationDateYYYYMMDD | 2022-11-01 |
| PublicationDate_xml | – month: 11 year: 2022 text: 2022-11-01 day: 01 |
| PublicationDecade | 2020 |
| PublicationPlace | China |
| PublicationPlace_xml | – name: China |
| PublicationTitle | Fundamental research (Beijing) |
| PublicationTitleAlternate | Fundam Res |
| PublicationYear | 2022 |
| Publisher | Elsevier B.V KeAi Publishing KeAi Communications Co. Ltd |
| Publisher_xml | – name: Elsevier B.V – name: KeAi Publishing – name: KeAi Communications Co. Ltd |
| References | Wang, Lian, Jiang (bib0031) 2019; 53 Liu, Barkho, Ruiz (bib0033) 2018; 472 Wang, Li, Shi (bib0006) 2012; 44 Chen, Liu, Liu (bib0074) 2013; 2 Mendell, Al-Zaidy, Rodino-Klapac (bib0055) 2021; 29 Saeed, Hoogerland, Wessel (bib0038) 2020; 29 Yang, Wang, Li (bib0046) 2004; 41 George, Sullivan, Giermasz (bib0056) 2017; 377 Lee, Deignan, Dorrani (bib0012) 2014; 312 Gagne, Thompson, O'Keefe (bib0002) 2014; 349 Gandal, Zhang, Hadjimichael (bib0026) 2018; 362 Gusella, Wexler, Conneally (bib0004) 1983; 306 Pogue, Cavalcanti, Shanker (bib0016) 2018; 23 Zhang, He, Yan (bib0027) 2020; 12 Liu, Chang, Leng (bib0075) 2019; 6 Ng, Turner, Robertson (bib0007) 2009; 461 2018 (accessed 23 Oct 2018). Teng, Li, Cui (bib0067) 2019; 20 Vitsios, Dhindsa, Middleton (bib0020) 2021; 12 Fu, Xu, Ren (bib0032) 2016; 7 Wang, Zhang, Fu (bib0043) 2020; 30 Frésard, Smail, Ferraro (bib0049) 2019; 25 Samarasinghe, Miranda, Buth (bib0036) 2021; 24 Cheng, Tang, Zhang (bib0078) 2021; 14 Imel, Liu, Coffman (bib0037) 2020; 35 Zhang, Wang, Liu (bib0059) 2017; 60 Rojano, Ranea, Perkins (bib0025) 2016; 48 Investigators, Smedley, Smith (bib0014) 2021; 385 Song, Chen, Zhao (bib0048) 2021; 141 Monica Heger, ASHG: RNA Sequencing can improve diagnostic yield of exome, genome tests. From Genome Web. Zabaleta, Barberia, Martin-Higueras (bib0070) 2018; 9 Zhou, Park, Theesfeld (bib0021) 2019; 51 Musunuru, Chadwick, Mizoguchi (bib0041) 2021; 593 Yan, He, Jiang (bib0028) 2020; 6 Yang, Muzny, Reid (bib0010) 2013; 369 Soden, Saunders, Willig (bib0013) 2014; 6 Cummings, Marshall, Tukiainen (bib0050) 2017; 9 Yang, Li, Tang (bib0072) 2018; 9 Yang, Shi, Wang (bib0042) 2012; 149 2018 (accessed 23 Nov 2018). Kotterman, Chalberg, Schaffer (bib0069) 2015; 17 Havrilla, Pedersen, Layer (bib0019) 2019; 51 Fu, Chen, Wang (bib0054) 2021; 31 Wang, Xu, Sun (bib0030) 2020; 5 Yan, Pan, Xin (bib0065) 2021; 7 Sun, Poschmann, Cruz-Herrera Del Rosario (bib0023) 2016; 167 Pereira, DuBreuil, Devlin (bib0035) 2021; 12 Yin, Wang, Li (bib0044) 2020; 30 de Goede, Nachun, Ferraro (bib0018) 2021; 184 Wu, Chen, Wang (bib0071) 2014; 3 Li, Sun, Yu (bib0073) 2020; 38 Xie, Ye, Chang (bib0034) 2014; 24 Aref-Eshghi, Bend, Colaiacovo (bib0024) 2019; 104 Cox, Platt, Zhang (bib0060) 2015; 21 Newby, Yen, Woodard (bib0061) 2021; 595 Lei, Finnell (bib0045) 2020; 30 Novartis announces landmark EU approval for one-time gene therapy Luxturna® to restore vision in people with rare inherited retinal disease. Liu, Yan, Chen (bib0029) 2017; 196 Xia, Liu, Tang (bib0005) 1998; 20 Yang, Muzny, Xia (bib0011) 2014; 312 Teng, Cui, Feng (bib0068) 2018; 4 Xin, Wan, Ping (bib0066) 2019; 4 Weng, Xiao, Zhang (bib0058) 2019; 37 Wang, Wang, Zhang (bib0040) 2021; 31 Turro, Astle, Megy (bib0022) 2020; 583 Li, Zhu, Ding (bib0052) 2020; 16 Song, Gao, Inagaki (bib0001) 2012; 1 (bib0009) 2017; 542 Lin, Chen, Lee (bib0047) 2012; 90 Chen, Yu, Niu (bib0039) 2017; 169 Wang, Yang, Xia (bib0008) 2010; 133 2021 (accessed 26 JUN 2021). China to establish collaboration network for rare disease diagnosis, treatment, 2019. Hu, Li, Wu (bib0062) 2022; 7 Ding, Fei, Lu (bib0053) 2020; 41 Dever, Bak, Reinisch (bib0064) 2016; 539 2019 (accessed 18 Feb 2019). Karczewski, Snyder (bib0051) 2018; 19 CRISPR injected into the blood treats a genetic disease for first time. Reily, Stewart, Renfrow (bib0076) 2019; 15 Patrushev, Kovalenko (bib0017) 2014; 79 Sang, Zhang, Shi (bib0077) 2019; 11 Sun, Fan, Shi (bib0079) 2021; 18 Wang (10.1016/j.fmre.2022.08.018_bib0030) 2020; 5 Aref-Eshghi (10.1016/j.fmre.2022.08.018_bib0024) 2019; 104 Liu (10.1016/j.fmre.2022.08.018_bib0075) 2019; 6 Reily (10.1016/j.fmre.2022.08.018_bib0076) 2019; 15 Chen (10.1016/j.fmre.2022.08.018_bib0039) 2017; 169 Pogue (10.1016/j.fmre.2022.08.018_bib0016) 2018; 23 Mendell (10.1016/j.fmre.2022.08.018_bib0055) 2021; 29 Teng (10.1016/j.fmre.2022.08.018_bib0067) 2019; 20 Yang (10.1016/j.fmre.2022.08.018_bib0042) 2012; 149 Cummings (10.1016/j.fmre.2022.08.018_bib0050) 2017; 9 Havrilla (10.1016/j.fmre.2022.08.018_bib0019) 2019; 51 Samarasinghe (10.1016/j.fmre.2022.08.018_bib0036) 2021; 24 Gagne (10.1016/j.fmre.2022.08.018_bib0002) 2014; 349 Liu (10.1016/j.fmre.2022.08.018_bib0033) 2018; 472 Zhang (10.1016/j.fmre.2022.08.018_bib0027) 2020; 12 Wang (10.1016/j.fmre.2022.08.018_bib0040) 2021; 31 Soden (10.1016/j.fmre.2022.08.018_bib0013) 2014; 6 Cheng (10.1016/j.fmre.2022.08.018_bib0078) 2021; 14 Wang (10.1016/j.fmre.2022.08.018_bib0008) 2010; 133 Frésard (10.1016/j.fmre.2022.08.018_bib0049) 2019; 25 Fu (10.1016/j.fmre.2022.08.018_bib0054) 2021; 31 10.1016/j.fmre.2022.08.018_bib0063 Ding (10.1016/j.fmre.2022.08.018_bib0053) 2020; 41 Yan (10.1016/j.fmre.2022.08.018_bib0028) 2020; 6 Imel (10.1016/j.fmre.2022.08.018_bib0037) 2020; 35 Investigators (10.1016/j.fmre.2022.08.018_bib0014) 2021; 385 Yang (10.1016/j.fmre.2022.08.018_bib0072) 2018; 9 Gandal (10.1016/j.fmre.2022.08.018_bib0026) 2018; 362 Lei (10.1016/j.fmre.2022.08.018_bib0045) 2020; 30 Weng (10.1016/j.fmre.2022.08.018_bib0058) 2019; 37 Song (10.1016/j.fmre.2022.08.018_bib0048) 2021; 141 Cox (10.1016/j.fmre.2022.08.018_bib0060) 2015; 21 Yang (10.1016/j.fmre.2022.08.018_bib0046) 2004; 41 de Goede (10.1016/j.fmre.2022.08.018_bib0018) 2021; 184 Chen (10.1016/j.fmre.2022.08.018_bib0074) 2013; 2 10.1016/j.fmre.2022.08.018_bib0015 Wang (10.1016/j.fmre.2022.08.018_bib0031) 2019; 53 Yang (10.1016/j.fmre.2022.08.018_bib0011) 2014; 312 (10.1016/j.fmre.2022.08.018_bib0009) 2017; 542 10.1016/j.fmre.2022.08.018_bib0057 Wang (10.1016/j.fmre.2022.08.018_bib0006) 2012; 44 Fu (10.1016/j.fmre.2022.08.018_bib0032) 2016; 7 Karczewski (10.1016/j.fmre.2022.08.018_bib0051) 2018; 19 Patrushev (10.1016/j.fmre.2022.08.018_bib0017) 2014; 79 Song (10.1016/j.fmre.2022.08.018_bib0001) 2012; 1 Yang (10.1016/j.fmre.2022.08.018_bib0010) 2013; 369 Wang (10.1016/j.fmre.2022.08.018_bib0043) 2020; 30 Xia (10.1016/j.fmre.2022.08.018_bib0005) 1998; 20 Sun (10.1016/j.fmre.2022.08.018_bib0023) 2016; 167 Sun (10.1016/j.fmre.2022.08.018_bib0079) 2021; 18 Liu (10.1016/j.fmre.2022.08.018_bib0029) 2017; 196 Wu (10.1016/j.fmre.2022.08.018_bib0071) 2014; 3 Ng (10.1016/j.fmre.2022.08.018_bib0007) 2009; 461 Turro (10.1016/j.fmre.2022.08.018_bib0022) 2020; 583 Saeed (10.1016/j.fmre.2022.08.018_bib0038) 2020; 29 Vitsios (10.1016/j.fmre.2022.08.018_bib0020) 2021; 12 Zhou (10.1016/j.fmre.2022.08.018_bib0021) 2019; 51 Xie (10.1016/j.fmre.2022.08.018_bib0034) 2014; 24 Pereira (10.1016/j.fmre.2022.08.018_bib0035) 2021; 12 Sang (10.1016/j.fmre.2022.08.018_bib0077) 2019; 11 Kotterman (10.1016/j.fmre.2022.08.018_bib0069) 2015; 17 Lin (10.1016/j.fmre.2022.08.018_bib0047) 2012; 90 10.1016/j.fmre.2022.08.018_bib0003 Xin (10.1016/j.fmre.2022.08.018_bib0066) 2019; 4 Li (10.1016/j.fmre.2022.08.018_bib0052) 2020; 16 George (10.1016/j.fmre.2022.08.018_bib0056) 2017; 377 Dever (10.1016/j.fmre.2022.08.018_bib0064) 2016; 539 Hu (10.1016/j.fmre.2022.08.018_bib0062) 2022; 7 Yan (10.1016/j.fmre.2022.08.018_bib0065) 2021; 7 Rojano (10.1016/j.fmre.2022.08.018_bib0025) 2016; 48 Li (10.1016/j.fmre.2022.08.018_bib0073) 2020; 38 Zhang (10.1016/j.fmre.2022.08.018_bib0059) 2017; 60 Musunuru (10.1016/j.fmre.2022.08.018_bib0041) 2021; 593 Gusella (10.1016/j.fmre.2022.08.018_bib0004) 1983; 306 Yin (10.1016/j.fmre.2022.08.018_bib0044) 2020; 30 Newby (10.1016/j.fmre.2022.08.018_bib0061) 2021; 595 Zabaleta (10.1016/j.fmre.2022.08.018_bib0070) 2018; 9 Lee (10.1016/j.fmre.2022.08.018_bib0012) 2014; 312 Teng (10.1016/j.fmre.2022.08.018_bib0068) 2018; 4 |
| References_xml | – volume: 3 start-page: 16 year: 2014 ident: bib0071 article-title: Network biomarkers, interaction networks and dynamical network biomarkers in respiratory diseased publication-title: Clin. Transl. Med. – volume: 11 start-page: eaav8731 year: 2019 ident: bib0077 article-title: A pannexin 1 channelopathy causes human oocyte death publication-title: Sci. Transl. Med. – volume: 44 start-page: 254 year: 2012 end-page: 256 ident: bib0006 article-title: Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis publication-title: Nat. Genet. – volume: 41 start-page: 171 year: 2004 end-page: 174 ident: bib0046 article-title: Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia publication-title: J. Med. Genet. – volume: 48 start-page: 2433 year: 2016 end-page: 2442 ident: bib0025 article-title: Characterisation of non-coding genetic variation in histamine receptors using AnNCR-SNP publication-title: Amino Acids – volume: 20 start-page: 15 year: 2019 ident: bib0067 article-title: Enhanced mammalian genome editing by new Cas12a orthologs with optimized crRNA scaffolds publication-title: Genome Biol. – volume: 17 start-page: 63 year: 2015 end-page: 89 ident: bib0069 article-title: Viral vectors for gene therapy: translational and clinical outlook publication-title: Annu. Rev. Biomed. Eng. – volume: 53 year: 2019 ident: bib0031 article-title: Germline BMP9 mutation causes idiopathic pulmonary arterial hypertension publication-title: Eur. Respir. J. – volume: 21 start-page: 121 year: 2015 end-page: 131 ident: bib0060 article-title: Therapeutic genome editing: prospects and challenges publication-title: Nat. Med. – volume: 595 start-page: 295 year: 2021 end-page: 302 ident: bib0061 article-title: Base editing of haematopoietic stem cells rescues sickle cell disease in mice publication-title: Nature – volume: 461 start-page: 272 year: 2009 end-page: 276 ident: bib0007 article-title: Targeted capture and massively parallel sequencing of 12 human exomes publication-title: Nature – volume: 362 start-page: eaat8127 year: 2018 ident: bib0026 article-title: Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder publication-title: Science – volume: 29 start-page: 464 year: 2021 end-page: 488 ident: bib0055 article-title: Current clinical applications of in vivo gene therapy with AAVs publication-title: Mol. Ther. – volume: 60 start-page: 468 year: 2017 end-page: 475 ident: bib0059 article-title: CRISPR/Cas9 system: a powerful technology for publication-title: Sci China Life Sci – volume: 6 start-page: 265ra168 year: 2014 ident: bib0013 article-title: Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders publication-title: Sci. Transl. Med. – volume: 9 start-page: eaal5209 year: 2017 ident: bib0050 article-title: Improving genetic diagnosis in Mendelian disease with transcriptome sequencing publication-title: Sci. Transl. Med. – volume: 184 start-page: 2633 year: 2021 end-page: 2648 ident: bib0018 article-title: Population-scale tissue transcriptomics maps long non-coding RNAs to complex disease publication-title: Cell – volume: 141 start-page: 1964 year: 2021 end-page: 1974 ident: bib0048 article-title: Hair Loss Caused by Gain-of-Function Mutant TRPV3 Is Associated with Premature Differentiation of Follicular Keratinocytes publication-title: J. Invest. Dermatol. – volume: 23 start-page: 187 year: 2018 end-page: 195 ident: bib0016 article-title: Rare genetic diseases: update on diagnosis, treatment and online resources publication-title: Drug Discov. Today – volume: 6 start-page: eaba2470 year: 2020 ident: bib0028 article-title: DNA methyltransferase 3B deficiency unveils a new pathological mechanism of pulmonary hypertension publication-title: Sci. Adv. – reference: Monica Heger, ASHG: RNA Sequencing can improve diagnostic yield of exome, genome tests. From Genome Web. – volume: 593 start-page: 429 year: 2021 end-page: 434 ident: bib0041 article-title: CRISPR base editing of PCSK9 durably lowers cholesterol in primates publication-title: Nature – volume: 31 start-page: 5396 year: 2021 end-page: 5410 ident: bib0040 article-title: White matter structural and network topological changes underlying the behavioral phenotype of MECP2 mutant monkeys publication-title: Cereb. Cortex – volume: 20 start-page: 370 year: 1998 end-page: 373 ident: bib0005 article-title: Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment publication-title: Nat. Genet. – reference: , 2021 (accessed 26 JUN 2021). – volume: 24 start-page: 1526 year: 2014 end-page: 1533 ident: bib0034 article-title: Seamless gene correction of beta thalassemia mutations in patient-specific iPSCs using CRISPR/Cas9 and piggyBac publication-title: Genome Res. – volume: 14 start-page: 363 year: 2021 end-page: 387 ident: bib0078 article-title: Glycan Labeling and Analysis in Cells and In Vivo publication-title: Annu. Rev. Anal. Chem. (Palo Alto Calif) – volume: 15 start-page: 346 year: 2019 end-page: 366 ident: bib0076 article-title: Glycosylation in health and disease publication-title: Nat. Rev. Nephrol. – volume: 38 start-page: 734 year: 2020 end-page: 747 ident: bib0073 article-title: Integrated omics of metastatic colorectal cancer publication-title: Cancer Cell – volume: 583 start-page: 96 year: 2020 end-page: 102 ident: bib0022 article-title: Whole-genome sequencing of patients with rare diseases in a national health system publication-title: Nature – volume: 472 start-page: 221 year: 2018 end-page: 225 ident: bib0033 article-title: Recapitulation of premature ageing with iPSCs from Hutchinson-Gilford progeria syndrome publication-title: Nature – volume: 18 start-page: 107 year: 2021 end-page: 113 ident: bib0079 article-title: Click-ExM enables expansion microscopy for all biomolecules publication-title: Nat. Methods – reference: China to establish collaboration network for rare disease diagnosis, treatment, 2019. – volume: 196 start-page: 925 year: 2017 end-page: 928 ident: bib0029 article-title: Hypermethylation of BMPR2 promoter occurs in patients with heritable pulmonary arterial hypertension and inhibits BMPR2 expression publication-title: Am. J. Respir. Crit. Care Med. – volume: 19 start-page: 299 year: 2018 end-page: 310 ident: bib0051 article-title: Integrative omics for health and disease publication-title: Nat. Rev. Genet. – volume: 9 start-page: 678 year: 2018 ident: bib0072 article-title: Dynamic network biomarker indicates pulmonary metastasis at the tipping point of hepatocellular carcinoma publication-title: Nat. Commun. – volume: 12 start-page: e11303 year: 2020 ident: bib0027 article-title: MicroRNA-483 amelioration of experimental pulmonary hypertension publication-title: EMBO Mol. Med. – volume: 30 start-page: 91 year: 2020 end-page: 94 ident: bib0043 article-title: Joint utilization of genetic analysis and semi-cloning technology reveals a digenic etiology of müllerian anomalies publication-title: Cell Res. – volume: 306 start-page: 234 year: 1983 end-page: 238 ident: bib0004 article-title: A polymorphic DNA marker genetically linked to Huntington's disease publication-title: Nature – volume: 542 start-page: 433 year: 2017 end-page: 438 ident: bib0009 article-title: Prevalence and architecture of de novo mutations in developmental disorders publication-title: Nature – volume: 25 start-page: 911 year: 2019 end-page: 919 ident: bib0049 article-title: Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts publication-title: Nat. Med. – reference: , 2019 (accessed 18 Feb 2019). – volume: 79 start-page: 1442 year: 2014 end-page: 1469 ident: bib0017 article-title: Functions of noncoding sequences in mammalian genomes publication-title: Biochemistry (Mosc) – volume: 167 start-page: 1385 year: 2016 end-page: 1397 ident: bib0023 article-title: Histone acetylome-wide association study of autism spectrum disorder publication-title: Cell – volume: 104 start-page: 685 year: 2019 end-page: 700 ident: bib0024 article-title: Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions publication-title: Am. J. Hum. Genet. – volume: 6 start-page: 775 year: 2019 end-page: 785 ident: bib0075 article-title: Detection for disease tipping points by landscape dynamic network biomarkers publication-title: Natl. Sci. Rev. – volume: 16 start-page: 185 year: 2020 end-page: 187 ident: bib0052 article-title: ATTEC: a potential new approach to target proteinopathies publication-title: Autophagy – volume: 37 start-page: 801 year: 2019 end-page: 825 ident: bib0058 article-title: RNAi therapeutic and its innovative biotechnological evolution publication-title: Biotechnol. Adv. – volume: 312 start-page: 1870 year: 2014 end-page: 1879 ident: bib0011 article-title: Molecular findings among patients referred for clinical whole-exome sequencing publication-title: JAMA – volume: 41 start-page: 464 year: 2020 end-page: 474 ident: bib0053 article-title: Emerging new concepts of degrader technologies publication-title: Trends Pharmacol. Sci. – volume: 7 start-page: 210 year: 2016 end-page: 221 ident: bib0032 article-title: Modeling xeroderma pigmentosum associated neurological pathologies with patients-derived iPSCs publication-title: Protein Cell – volume: 30 start-page: 133 year: 2020 end-page: 145 ident: bib0044 article-title: Dosage effect of multiple genes accounts for multisystem disorder of myotonic dystrophy type 1 publication-title: Cell Res. – volume: 312 start-page: 1880 year: 2014 end-page: 1887 ident: bib0012 article-title: Clinical exome sequencing for genetic identification of rare Mendelian disorders publication-title: JAMA – volume: 169 start-page: 945 year: 2017 end-page: 955 ident: bib0039 article-title: Modeling rett syndrome using TALEN-edited MECP2 mutant cynomolgus monkeys publication-title: Cell – volume: 149 start-page: 605 year: 2012 end-page: 617 ident: bib0042 article-title: Generation of genetically modified mice by oocyte injection of androgenetic haploid embryonic stem cells publication-title: Cell – volume: 385 start-page: 1868 year: 2021 end-page: 1880 ident: bib0014 article-title: 100,000 Genomes pilot on rare-disease diagnosis in health care - preliminary report publication-title: N. Engl. J. Med. – reference: , 2018 (accessed 23 Oct 2018). – volume: 377 start-page: 2215 year: 2017 end-page: 2227 ident: bib0056 article-title: Hemophilia B Gene Therapy with a High-Specific-Activity Factor IX Variant publication-title: N Engl J Med. – volume: 31 start-page: 965 year: 2021 end-page: 979 ident: bib0054 article-title: Degradation of lipid droplets by chimeric autophagy-tethering compounds publication-title: Cell Res. – volume: 12 start-page: 1504 year: 2021 ident: bib0020 article-title: Prioritizing non-coding regions based on human genomic constraint and sequence context with deep learning publication-title: Nat. Commun. – volume: 51 start-page: 88 year: 2019 end-page: 95 ident: bib0019 article-title: A map of constrained coding regions in the human genome publication-title: Nat. Genet. – volume: 4 start-page: 63 year: 2018 ident: bib0068 article-title: Repurposing CRISPR-Cas12b for mammalian genome engineering publication-title: Cell Discov – reference: , 2018 (accessed 23 Nov 2018). – volume: 7 start-page: eabj0624 year: 2021 ident: bib0065 article-title: Genome-editing prodrug: targeted delivery and conditional stabilization of CRISPR-Cas9 for precision therapy of inflammatory disease publication-title: Sci. Adv. – reference: CRISPR injected into the blood treats a genetic disease for first time. – volume: 9 start-page: 5454 year: 2018 ident: bib0070 article-title: CRISPR/Cas9-mediated glycolate oxidase disruption is an efficacious and safe treatment for primary hyperoxaluria type I publication-title: Nat. Commun. – volume: 133 start-page: 3510 year: 2010 end-page: 3518 ident: bib0008 article-title: TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing publication-title: Brain – volume: 7 start-page: 189 year: 2022 ident: bib0062 article-title: Targeted B-domain deletion restores F8 function in human endothelial cells and mice publication-title: Signal Transduct Target Ther – volume: 369 start-page: 1502 year: 2013 end-page: 1511 ident: bib0010 article-title: Clinical whole-exome sequencing for the diagnosis of mendelian disorders publication-title: N. Engl. J. Med. – volume: 24 start-page: 1488 year: 2021 end-page: 1500 ident: bib0036 article-title: Identification of neural oscillations and epileptiform changes in human brain organoids publication-title: Nat. Neurosci. – volume: 51 start-page: 973 year: 2019 end-page: 980 ident: bib0021 article-title: Whole-genome deep-learning analysis identifies contribution of noncoding mutations to autism risk publication-title: Nat. Genet. – volume: 90 start-page: 558 year: 2012 end-page: 564 ident: bib0047 article-title: Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome publication-title: Am. J. Hum. Genet. – volume: 35 start-page: 231 year: 2020 end-page: 238 ident: bib0037 article-title: Oral iron replacement normalizes fibroblast growth factor 23 in iron-deficient patients with autosomal dominant hypophosphatemic rickets publication-title: J. Bone Miner. Res. – volume: 2 start-page: 342 year: 2013 ident: bib0074 article-title: Detecting early-warning signals for sudden deterioration of complex diseases by dynamical network biomarkers publication-title: Sci. Rep. – reference: Novartis announces landmark EU approval for one-time gene therapy Luxturna® to restore vision in people with rare inherited retinal disease. – volume: 539 start-page: 384 year: 2016 end-page: 389 ident: bib0064 article-title: CRISPR/Cas9 β-globin gene targeting in human haematopoietic stem cells publication-title: Nature – volume: 5 start-page: 677 year: 2020 end-page: 684 ident: bib0030 article-title: Association of rare PTGIS variants with susceptibility and pulmonary vascular response in patients with idiopathic pulmonary arterial hypertension publication-title: JAMA Cardiol. – volume: 4 start-page: 9 year: 2019 ident: bib0066 article-title: Off-Targeting of Base Editors: BE3 but not ABE induces substantial off-target single nucleotide variants publication-title: Signal Transduct Target Ther – volume: 30 start-page: 99 year: 2020 end-page: 100 ident: bib0045 article-title: New myotonic dystrophy type 1 mouse model publication-title: Cell Res. – volume: 12 start-page: 4744 year: 2021 ident: bib0035 article-title: Human sensorimotor organoids derived from healthy and amyotrophic lateral sclerosis stem cells form neuromuscular junctions publication-title: Nat. Commun. – volume: 349 start-page: g6802 year: 2014 ident: bib0002 article-title: Innovative research methods for studying treatments for rare diseases: methodological review publication-title: BMJ – volume: 1 start-page: 3 year: 2012 end-page: 9 ident: bib0001 article-title: Rare diseases, orphan drugs, and their regulation in Asia: current status and future perspectives publication-title: Intractable Rare Dis. Res. – volume: 29 start-page: 264 year: 2020 end-page: 273 ident: bib0038 article-title: Glycogen storage disease type 1a is associated with disturbed vitamin A metabolism and elevated serum retinol levels publication-title: Hum. Mol. Genet. – volume: 349 start-page: g6802 year: 2014 ident: 10.1016/j.fmre.2022.08.018_bib0002 article-title: Innovative research methods for studying treatments for rare diseases: methodological review publication-title: BMJ doi: 10.1136/bmj.g6802 – volume: 542 start-page: 433 year: 2017 ident: 10.1016/j.fmre.2022.08.018_bib0009 article-title: Prevalence and architecture of de novo mutations in developmental disorders publication-title: Nature doi: 10.1038/nature21062 – volume: 53 year: 2019 ident: 10.1016/j.fmre.2022.08.018_bib0031 article-title: Germline BMP9 mutation causes idiopathic pulmonary arterial hypertension publication-title: Eur. Respir. J. doi: 10.1183/13993003.01609-2018 – volume: 12 start-page: 4744 year: 2021 ident: 10.1016/j.fmre.2022.08.018_bib0035 article-title: Human sensorimotor organoids derived from healthy and amyotrophic lateral sclerosis stem cells form neuromuscular junctions publication-title: Nat. Commun. doi: 10.1038/s41467-021-24776-4 – volume: 5 start-page: 677 year: 2020 ident: 10.1016/j.fmre.2022.08.018_bib0030 article-title: Association of rare PTGIS variants with susceptibility and pulmonary vascular response in patients with idiopathic pulmonary arterial hypertension publication-title: JAMA Cardiol. doi: 10.1001/jamacardio.2020.0479 – volume: 23 start-page: 187 year: 2018 ident: 10.1016/j.fmre.2022.08.018_bib0016 article-title: Rare genetic diseases: update on diagnosis, treatment and online resources publication-title: Drug Discov. Today doi: 10.1016/j.drudis.2017.11.002 – volume: 29 start-page: 264 year: 2020 ident: 10.1016/j.fmre.2022.08.018_bib0038 article-title: Glycogen storage disease type 1a is associated with disturbed vitamin A metabolism and elevated serum retinol levels publication-title: Hum. Mol. Genet. doi: 10.1093/hmg/ddz283 – volume: 41 start-page: 464 year: 2020 ident: 10.1016/j.fmre.2022.08.018_bib0053 article-title: Emerging new concepts of degrader technologies publication-title: Trends Pharmacol. Sci. doi: 10.1016/j.tips.2020.04.005 – volume: 369 start-page: 1502 year: 2013 ident: 10.1016/j.fmre.2022.08.018_bib0010 article-title: Clinical whole-exome sequencing for the diagnosis of mendelian disorders publication-title: N. Engl. J. Med. doi: 10.1056/NEJMoa1306555 – volume: 6 start-page: 265ra168 year: 2014 ident: 10.1016/j.fmre.2022.08.018_bib0013 article-title: Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders publication-title: Sci. Transl. Med. doi: 10.1126/scitranslmed.3010076 – volume: 104 start-page: 685 year: 2019 ident: 10.1016/j.fmre.2022.08.018_bib0024 article-title: Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions publication-title: Am. J. Hum. Genet. doi: 10.1016/j.ajhg.2019.03.008 – volume: 12 start-page: e11303 year: 2020 ident: 10.1016/j.fmre.2022.08.018_bib0027 article-title: MicroRNA-483 amelioration of experimental pulmonary hypertension publication-title: EMBO Mol. Med. doi: 10.15252/emmm.201911303 – volume: 24 start-page: 1526 year: 2014 ident: 10.1016/j.fmre.2022.08.018_bib0034 article-title: Seamless gene correction of beta thalassemia mutations in patient-specific iPSCs using CRISPR/Cas9 and piggyBac publication-title: Genome Res. doi: 10.1101/gr.173427.114 – volume: 25 start-page: 911 year: 2019 ident: 10.1016/j.fmre.2022.08.018_bib0049 article-title: Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts publication-title: Nat. Med. doi: 10.1038/s41591-019-0457-8 – volume: 595 start-page: 295 year: 2021 ident: 10.1016/j.fmre.2022.08.018_bib0061 article-title: Base editing of haematopoietic stem cells rescues sickle cell disease in mice publication-title: Nature doi: 10.1038/s41586-021-03609-w – volume: 9 start-page: eaal5209 year: 2017 ident: 10.1016/j.fmre.2022.08.018_bib0050 article-title: Improving genetic diagnosis in Mendelian disease with transcriptome sequencing publication-title: Sci. Transl. Med. doi: 10.1126/scitranslmed.aal5209 – volume: 583 start-page: 96 year: 2020 ident: 10.1016/j.fmre.2022.08.018_bib0022 article-title: Whole-genome sequencing of patients with rare diseases in a national health system publication-title: Nature doi: 10.1038/s41586-020-2434-2 – volume: 472 start-page: 221 year: 2018 ident: 10.1016/j.fmre.2022.08.018_bib0033 article-title: Recapitulation of premature ageing with iPSCs from Hutchinson-Gilford progeria syndrome publication-title: Nature doi: 10.1038/nature09879 – volume: 37 start-page: 801 year: 2019 ident: 10.1016/j.fmre.2022.08.018_bib0058 article-title: RNAi therapeutic and its innovative biotechnological evolution publication-title: Biotechnol. Adv. doi: 10.1016/j.biotechadv.2019.04.012 – volume: 184 start-page: 2633 year: 2021 ident: 10.1016/j.fmre.2022.08.018_bib0018 article-title: Population-scale tissue transcriptomics maps long non-coding RNAs to complex disease publication-title: Cell doi: 10.1016/j.cell.2021.03.050 – volume: 51 start-page: 88 year: 2019 ident: 10.1016/j.fmre.2022.08.018_bib0019 article-title: A map of constrained coding regions in the human genome publication-title: Nat. Genet. doi: 10.1038/s41588-018-0294-6 – volume: 593 start-page: 429 year: 2021 ident: 10.1016/j.fmre.2022.08.018_bib0041 article-title: In vivo CRISPR base editing of PCSK9 durably lowers cholesterol in primates publication-title: Nature doi: 10.1038/s41586-021-03534-y – volume: 3 start-page: 16 year: 2014 ident: 10.1016/j.fmre.2022.08.018_bib0071 article-title: Network biomarkers, interaction networks and dynamical network biomarkers in respiratory diseased publication-title: Clin. Transl. Med. doi: 10.1186/2001-1326-3-16 – volume: 14 start-page: 363 year: 2021 ident: 10.1016/j.fmre.2022.08.018_bib0078 article-title: Glycan Labeling and Analysis in Cells and In Vivo publication-title: Annu. Rev. Anal. Chem. (Palo Alto Calif) doi: 10.1146/annurev-anchem-091620-091314 – volume: 6 start-page: 775 year: 2019 ident: 10.1016/j.fmre.2022.08.018_bib0075 article-title: Detection for disease tipping points by landscape dynamic network biomarkers publication-title: Natl. Sci. Rev. doi: 10.1093/nsr/nwy162 – volume: 11 start-page: eaav8731 year: 2019 ident: 10.1016/j.fmre.2022.08.018_bib0077 article-title: A pannexin 1 channelopathy causes human oocyte death publication-title: Sci. Transl. Med. doi: 10.1126/scitranslmed.aav8731 – volume: 51 start-page: 973 year: 2019 ident: 10.1016/j.fmre.2022.08.018_bib0021 article-title: Whole-genome deep-learning analysis identifies contribution of noncoding mutations to autism risk publication-title: Nat. Genet. doi: 10.1038/s41588-019-0420-0 – volume: 60 start-page: 468 year: 2017 ident: 10.1016/j.fmre.2022.08.018_bib0059 article-title: CRISPR/Cas9 system: a powerful technology for in vivo and ex vivo gene therapy publication-title: Sci China Life Sci doi: 10.1007/s11427-017-9057-2 – volume: 7 start-page: 189 year: 2022 ident: 10.1016/j.fmre.2022.08.018_bib0062 article-title: Targeted B-domain deletion restores F8 function in human endothelial cells and mice publication-title: Signal Transduct Target Ther doi: 10.1038/s41392-022-01016-9 – volume: 2 start-page: 342 year: 2013 ident: 10.1016/j.fmre.2022.08.018_bib0074 article-title: Detecting early-warning signals for sudden deterioration of complex diseases by dynamical network biomarkers publication-title: Sci. Rep. doi: 10.1038/srep00342 – volume: 167 start-page: 1385 year: 2016 ident: 10.1016/j.fmre.2022.08.018_bib0023 article-title: Histone acetylome-wide association study of autism spectrum disorder publication-title: Cell doi: 10.1016/j.cell.2016.10.031 – volume: 31 start-page: 965 year: 2021 ident: 10.1016/j.fmre.2022.08.018_bib0054 article-title: Degradation of lipid droplets by chimeric autophagy-tethering compounds publication-title: Cell Res. doi: 10.1038/s41422-021-00532-7 – volume: 1 start-page: 3 year: 2012 ident: 10.1016/j.fmre.2022.08.018_bib0001 article-title: Rare diseases, orphan drugs, and their regulation in Asia: current status and future perspectives publication-title: Intractable Rare Dis. Res. – volume: 18 start-page: 107 year: 2021 ident: 10.1016/j.fmre.2022.08.018_bib0079 article-title: Click-ExM enables expansion microscopy for all biomolecules publication-title: Nat. Methods doi: 10.1038/s41592-020-01005-2 – volume: 48 start-page: 2433 year: 2016 ident: 10.1016/j.fmre.2022.08.018_bib0025 article-title: Characterisation of non-coding genetic variation in histamine receptors using AnNCR-SNP publication-title: Amino Acids doi: 10.1007/s00726-016-2265-5 – volume: 7 start-page: eabj0624 year: 2021 ident: 10.1016/j.fmre.2022.08.018_bib0065 article-title: Genome-editing prodrug: targeted delivery and conditional stabilization of CRISPR-Cas9 for precision therapy of inflammatory disease publication-title: Sci. Adv. doi: 10.1126/sciadv.abj0624 – volume: 90 start-page: 558 year: 2012 ident: 10.1016/j.fmre.2022.08.018_bib0047 article-title: Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome publication-title: Am. J. Hum. Genet. doi: 10.1016/j.ajhg.2012.02.006 – volume: 141 start-page: 1964 year: 2021 ident: 10.1016/j.fmre.2022.08.018_bib0048 article-title: Hair Loss Caused by Gain-of-Function Mutant TRPV3 Is Associated with Premature Differentiation of Follicular Keratinocytes publication-title: J. Invest. Dermatol. doi: 10.1016/j.jid.2020.11.036 – volume: 169 start-page: 945 year: 2017 ident: 10.1016/j.fmre.2022.08.018_bib0039 article-title: Modeling rett syndrome using TALEN-edited MECP2 mutant cynomolgus monkeys publication-title: Cell doi: 10.1016/j.cell.2017.04.035 – volume: 539 start-page: 384 year: 2016 ident: 10.1016/j.fmre.2022.08.018_bib0064 article-title: CRISPR/Cas9 β-globin gene targeting in human haematopoietic stem cells publication-title: Nature doi: 10.1038/nature20134 – volume: 149 start-page: 605 year: 2012 ident: 10.1016/j.fmre.2022.08.018_bib0042 article-title: Generation of genetically modified mice by oocyte injection of androgenetic haploid embryonic stem cells publication-title: Cell doi: 10.1016/j.cell.2012.04.002 – volume: 30 start-page: 91 year: 2020 ident: 10.1016/j.fmre.2022.08.018_bib0043 article-title: Joint utilization of genetic analysis and semi-cloning technology reveals a digenic etiology of müllerian anomalies publication-title: Cell Res. doi: 10.1038/s41422-019-0243-7 – volume: 19 start-page: 299 year: 2018 ident: 10.1016/j.fmre.2022.08.018_bib0051 article-title: Integrative omics for health and disease publication-title: Nat. Rev. Genet. doi: 10.1038/nrg.2018.4 – volume: 4 start-page: 9 year: 2019 ident: 10.1016/j.fmre.2022.08.018_bib0066 article-title: Off-Targeting of Base Editors: BE3 but not ABE induces substantial off-target single nucleotide variants publication-title: Signal Transduct Target Ther doi: 10.1038/s41392-019-0044-y – volume: 16 start-page: 185 year: 2020 ident: 10.1016/j.fmre.2022.08.018_bib0052 article-title: ATTEC: a potential new approach to target proteinopathies publication-title: Autophagy doi: 10.1080/15548627.2019.1688556 – volume: 35 start-page: 231 year: 2020 ident: 10.1016/j.fmre.2022.08.018_bib0037 article-title: Oral iron replacement normalizes fibroblast growth factor 23 in iron-deficient patients with autosomal dominant hypophosphatemic rickets publication-title: J. Bone Miner. Res. doi: 10.1002/jbmr.3878 – volume: 44 start-page: 254 year: 2012 ident: 10.1016/j.fmre.2022.08.018_bib0006 article-title: Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis publication-title: Nat. Genet. doi: 10.1038/ng.1077 – volume: 312 start-page: 1870 year: 2014 ident: 10.1016/j.fmre.2022.08.018_bib0011 article-title: Molecular findings among patients referred for clinical whole-exome sequencing publication-title: JAMA doi: 10.1001/jama.2014.14601 – volume: 385 start-page: 1868 year: 2021 ident: 10.1016/j.fmre.2022.08.018_bib0014 article-title: 100,000 Genomes pilot on rare-disease diagnosis in health care - preliminary report publication-title: N. Engl. J. Med. doi: 10.1056/NEJMoa2035790 – volume: 31 start-page: 5396 year: 2021 ident: 10.1016/j.fmre.2022.08.018_bib0040 article-title: White matter structural and network topological changes underlying the behavioral phenotype of MECP2 mutant monkeys publication-title: Cereb. Cortex doi: 10.1093/cercor/bhab166 – volume: 9 start-page: 5454 year: 2018 ident: 10.1016/j.fmre.2022.08.018_bib0070 article-title: CRISPR/Cas9-mediated glycolate oxidase disruption is an efficacious and safe treatment for primary hyperoxaluria type I publication-title: Nat. Commun. doi: 10.1038/s41467-018-07827-1 – volume: 461 start-page: 272 year: 2009 ident: 10.1016/j.fmre.2022.08.018_bib0007 article-title: Targeted capture and massively parallel sequencing of 12 human exomes publication-title: Nature doi: 10.1038/nature08250 – ident: 10.1016/j.fmre.2022.08.018_bib0003 – volume: 7 start-page: 210 year: 2016 ident: 10.1016/j.fmre.2022.08.018_bib0032 article-title: Modeling xeroderma pigmentosum associated neurological pathologies with patients-derived iPSCs publication-title: Protein Cell doi: 10.1007/s13238-016-0244-y – volume: 20 start-page: 15 year: 2019 ident: 10.1016/j.fmre.2022.08.018_bib0067 article-title: Enhanced mammalian genome editing by new Cas12a orthologs with optimized crRNA scaffolds publication-title: Genome Biol. doi: 10.1186/s13059-019-1620-8 – volume: 4 start-page: 63 year: 2018 ident: 10.1016/j.fmre.2022.08.018_bib0068 article-title: Repurposing CRISPR-Cas12b for mammalian genome engineering publication-title: Cell Discov doi: 10.1038/s41421-018-0069-3 – volume: 30 start-page: 99 year: 2020 ident: 10.1016/j.fmre.2022.08.018_bib0045 article-title: New myotonic dystrophy type 1 mouse model publication-title: Cell Res. doi: 10.1038/s41422-020-0276-y – volume: 377 start-page: 2215 year: 2017 ident: 10.1016/j.fmre.2022.08.018_bib0056 article-title: Hemophilia B Gene Therapy with a High-Specific-Activity Factor IX Variant publication-title: N Engl J Med. doi: 10.1056/NEJMoa1708538 – ident: 10.1016/j.fmre.2022.08.018_bib0057 – volume: 17 start-page: 63 year: 2015 ident: 10.1016/j.fmre.2022.08.018_bib0069 article-title: Viral vectors for gene therapy: translational and clinical outlook publication-title: Annu. Rev. Biomed. Eng. doi: 10.1146/annurev-bioeng-071813-104938 – volume: 133 start-page: 3510 year: 2010 ident: 10.1016/j.fmre.2022.08.018_bib0008 article-title: TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing publication-title: Brain doi: 10.1093/brain/awq323 – volume: 196 start-page: 925 year: 2017 ident: 10.1016/j.fmre.2022.08.018_bib0029 article-title: Hypermethylation of BMPR2 promoter occurs in patients with heritable pulmonary arterial hypertension and inhibits BMPR2 expression publication-title: Am. J. Respir. Crit. Care Med. doi: 10.1164/rccm.201611-2273LE – volume: 41 start-page: 171 year: 2004 ident: 10.1016/j.fmre.2022.08.018_bib0046 article-title: Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia publication-title: J. Med. Genet. doi: 10.1136/jmg.2003.012153 – volume: 9 start-page: 678 year: 2018 ident: 10.1016/j.fmre.2022.08.018_bib0072 article-title: Dynamic network biomarker indicates pulmonary metastasis at the tipping point of hepatocellular carcinoma publication-title: Nat. Commun. doi: 10.1038/s41467-018-03024-2 – volume: 79 start-page: 1442 year: 2014 ident: 10.1016/j.fmre.2022.08.018_bib0017 article-title: Functions of noncoding sequences in mammalian genomes publication-title: Biochemistry (Mosc) doi: 10.1134/S0006297914130021 – volume: 24 start-page: 1488 year: 2021 ident: 10.1016/j.fmre.2022.08.018_bib0036 article-title: Identification of neural oscillations and epileptiform changes in human brain organoids publication-title: Nat. Neurosci. doi: 10.1038/s41593-021-00906-5 – volume: 30 start-page: 133 year: 2020 ident: 10.1016/j.fmre.2022.08.018_bib0044 article-title: Dosage effect of multiple genes accounts for multisystem disorder of myotonic dystrophy type 1 publication-title: Cell Res. doi: 10.1038/s41422-019-0264-2 – volume: 306 start-page: 234 year: 1983 ident: 10.1016/j.fmre.2022.08.018_bib0004 article-title: A polymorphic DNA marker genetically linked to Huntington's disease publication-title: Nature doi: 10.1038/306234a0 – ident: 10.1016/j.fmre.2022.08.018_bib0015 – volume: 20 start-page: 370 year: 1998 ident: 10.1016/j.fmre.2022.08.018_bib0005 article-title: Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment publication-title: Nat. Genet. doi: 10.1038/3845 – volume: 12 start-page: 1504 year: 2021 ident: 10.1016/j.fmre.2022.08.018_bib0020 article-title: Prioritizing non-coding regions based on human genomic constraint and sequence context with deep learning publication-title: Nat. Commun. doi: 10.1038/s41467-021-21790-4 – ident: 10.1016/j.fmre.2022.08.018_bib0063 – volume: 21 start-page: 121 year: 2015 ident: 10.1016/j.fmre.2022.08.018_bib0060 article-title: Therapeutic genome editing: prospects and challenges publication-title: Nat. Med. doi: 10.1038/nm.3793 – volume: 6 start-page: eaba2470 year: 2020 ident: 10.1016/j.fmre.2022.08.018_bib0028 article-title: DNA methyltransferase 3B deficiency unveils a new pathological mechanism of pulmonary hypertension publication-title: Sci. Adv. doi: 10.1126/sciadv.aba2470 – volume: 29 start-page: 464 year: 2021 ident: 10.1016/j.fmre.2022.08.018_bib0055 article-title: Current clinical applications of in vivo gene therapy with AAVs publication-title: Mol. Ther. doi: 10.1016/j.ymthe.2020.12.007 – volume: 38 start-page: 734 year: 2020 ident: 10.1016/j.fmre.2022.08.018_bib0073 article-title: Integrated omics of metastatic colorectal cancer publication-title: Cancer Cell doi: 10.1016/j.ccell.2020.08.002 – volume: 362 start-page: eaat8127 year: 2018 ident: 10.1016/j.fmre.2022.08.018_bib0026 article-title: Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder publication-title: Science doi: 10.1126/science.aat8127 – volume: 312 start-page: 1880 year: 2014 ident: 10.1016/j.fmre.2022.08.018_bib0012 article-title: Clinical exome sequencing for genetic identification of rare Mendelian disorders publication-title: JAMA doi: 10.1001/jama.2014.14604 – volume: 15 start-page: 346 year: 2019 ident: 10.1016/j.fmre.2022.08.018_bib0076 article-title: Glycosylation in health and disease publication-title: Nat. Rev. Nephrol. doi: 10.1038/s41581-019-0129-4 |
| SSID | ssj0002811332 ssib052855697 |
| Score | 2.2148223 |
| SecondaryResourceType | review_article |
| Snippet | Rare and undiagnosed diseases tend to be diverse, misdiagnosed, and difficult to diagnose. In some cases, the disease is progressive and life-threatening. Yet,... |
| SourceID | doaj pubmedcentral proquest pubmed crossref elsevier |
| SourceType | Open Website Open Access Repository Aggregation Database Index Database Enrichment Source Publisher |
| StartPage | 851 |
| SubjectTerms | Animal model Diagnosis Gene Rare disease Review Therapy Undiagnosed disease |
| Title | Medical care of rare and undiagnosed diseases: Prospects and challenges |
| URI | https://dx.doi.org/10.1016/j.fmre.2022.08.018 https://www.ncbi.nlm.nih.gov/pubmed/38933390 https://www.proquest.com/docview/3072814629 https://pubmed.ncbi.nlm.nih.gov/PMC11197738 https://doaj.org/article/acd70b07f12d4228983526d66968dbe8 |
| Volume | 2 |
| hasFullText | 1 |
| inHoldings | 1 |
| isFullTextHit | |
| isPrint | |
| link | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwrV1Lb9QwELaqnrhUFGgJj8pIHIpQ1PgV29wAUSokqh6o1Jtlx7ZoBVm02f3_eGxntQtSuXBJJMd52B5nPntmvkHotYqaeKdsyyMP6eBjawMXrSTRUuGElwHinb9e9hfX_MuNuNlK9QU-YYUeuHTcmR287FwnI6Ee6Ko0QIbe90Dq4l3IYb5J520tpu7ylhFJiy8wISQFlGYRFapGzBTnrvhzCRyZlGb-Tsj4saWVMnn_jnL6G3z-6UO5pZTOH6KDiibx-9KKQ7QXxkfosM7XCZ9WUuk3j9HnapHB4OqFFxEv4WxHj9ejL-52weNqrpne4avlIgdhTrnOMKdcmZ6g6_NP3z5etDWJQjskaLVqbd_5XvU-qsgk46wLUVgx6BBTcdDaRteJYJUMgUTNBqa9tMoyyjSJwWp2hPbHxRieIqw495poES2B8FieoIRjaQnErXQuCNogMneiGSrDOCS6-GFmV7I7Ax1voOMNZL8kqkFvN_f8Kvwa99b-AGOzqQnc2LkgSYypEmP-JTENEvPImgozCnxIj7q99-WvZjEwaQ6CYcWOYbGeTPpPUthKpbpBx0UsNp8IgJAx3TVI7QjMTht2r4y33zPPNwETr2Tq2f9o9XP0ANpSwihfoP3Vch1eJjy1cid56pzkja7fKhAcsQ |
| linkProvider | Directory of Open Access Journals |
| openUrl | ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=Medical+care+of+rare+and+undiagnosed+diseases%3A+Prospects+and+challenges&rft.jtitle=Fundamental+research+%28Beijing%29&rft.au=Shan%2C+Zhiyan&rft.au=Ding%2C+Lijun&rft.au=Zhu%2C+Caiyun&rft.au=Sun%2C+Ruijuan&rft.date=2022-11-01&rft.issn=2667-3258&rft.eissn=2667-3258&rft.volume=2&rft.issue=6&rft.spage=851&rft_id=info:doi/10.1016%2Fj.fmre.2022.08.018&rft.externalDBID=NO_FULL_TEXT |
| thumbnail_l | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=2667-3258&client=summon |
| thumbnail_m | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=2667-3258&client=summon |
| thumbnail_s | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=2667-3258&client=summon |