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Iron Hack - A symposium/hackathon focused on porphyrias, Friedreich's ataxia, and other rare iron-related diseases.

التفاصيل البيبلوغرافية
العنوان: Iron Hack - A symposium/hackathon focused on porphyrias, Friedreich's ataxia, and other rare iron-related diseases.
المؤلفون: Ferreira GC; Department of Molecular Medicine, Morsani College of Medicine, University of South Florida, MDC 7, Tampa, FL, 33612, USA., Oberstaller J; Global and Planetary Health, College of Public Health, University of South Florida, USF Genomics Program, 3720 Spectrum Blvd, Tampa, FL, 33612, USA., Fonseca R; Morsani College of Medicine, University of South Florida, 12901 Bruce B Downs Blvd, Tampa, FL, 33612, USA., Keller TE; University of South Florida, USF Genomics Program, 3720 Spectrum Blvd, Tampa, FL, 33612, USA., Adapa SR; Global and Planetary Health, College of Public Health, University of South Florida, USF Genomics Program, 3720 Spectrum Blvd, Tampa, FL, 33612, USA., Gibbons J; Morsani College of Medicine, University of South Florida, 12901 Bruce B Downs Blvd, Tampa, FL, 33612, USA., Wang C; Global and Planetary Health, College of Public Health, University of South Florida, USF Genomics Program, 3720 Spectrum Blvd, Tampa, FL, 33612, USA., Liu X; Global and Planetary Health, College of Public Health, University of South Florida, USF Genomics Program, 3720 Spectrum Blvd, Tampa, FL, 33612, USA., Li C; Global and Planetary Health, College of Public Health, University of South Florida, USF Genomics Program, 3720 Spectrum Blvd, Tampa, FL, 33612, USA., Pham M; Center for Urban Transportation Research, University of South Florida, 4202 E. Fowler Avenue, CUT100, Tampa, FL, 33620, USA., Dayhoff Ii GW; Department of Chemistry, University of South Florida, 4202 E. Fowler Avenue, CHE 205, Tampa, FL, 33620-5250, USA., Duong LM; College of Public Health, University of South Florida, 13201 Bruce B. Downs Blvd., MDC 56, Tampa, FL, 33612, USA.; Moffitt Cancer Center, Tampa, FL, 33612, USA., Reyes LT; Department of Cell Biology, Microbiology and Molecular Biology, University of South Florida, 4202 East Fowler Ave, ISA 2015 Tampa, FL, 33620, USA., Laratelli LE; Department of Chemistry, University of South Florida, 4202 E. Fowler Avenue, CHE 205, Tampa, FL, 33620-5250, USA., Franz D; Department of Chemistry, University of South Florida, 4202 E. Fowler Avenue, CHE 205, Tampa, FL, 33620-5250, USA., Fatumo S; MRC/UVRI and LSHTM (Uganda Research Unit), Entebbe, Uganda., Bari AG; Department of Computer Science and Engineering, University of South Florida, Tampa, FL, USA., Freischel A; Moffitt Cancer Center, Tampa, FL, 33612, USA., Fiedler L; College of Public Health, University of South Florida, 13201 Bruce B. Downs Blvd., MDC 56, Tampa, FL, 33612, USA., Dokur O; Department of Computer Science and Engineering, University of South Florida, Tampa, FL, USA., Sharma K; University of South Florida, Tampa, FL, 33620, USA., Cragun D; Global and Planetary Health, College of Public Health, University of South Florida, USF Genomics Program, 3720 Spectrum Blvd, Tampa, FL, 33612, USA., Busby B; National Library of Medicine, 8600 Rockville Pike, Bethesda, MD, 20894-6075, USA., Jiang RHY; Global and Planetary Health, College of Public Health, University of South Florida, USF Genomics Program, 3720 Spectrum Blvd, Tampa, FL, 33612, USA.
المصدر: F1000Research [F1000Res] 2019 Jul 19; Vol. 8, pp. 1135. Date of Electronic Publication: 2019 Jul 19 (Print Publication: 2019).
نوع المنشور: Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
اللغة: English
بيانات الدورية: Publisher: F1000 Research Ltd Country of Publication: England NLM ID: 101594320 Publication Model: eCollection Cited Medium: Internet ISSN: 2046-1402 (Electronic) Linking ISSN: 20461402 NLM ISO Abbreviation: F1000Res Subsets: MEDLINE
أسماء مطبوعة: Original Publication: London : F1000 Research Ltd
مواضيع طبية MeSH: Friedreich Ataxia* , Porphyrias*, Databases, Factual ; Humans ; Iron ; Rare Diseases ; United States
مستخلص: Background : Basic and clinical scientific research at the University of South Florida (USF) have intersected to support a multi-faceted approach around a common focus on rare iron-related diseases. We proposed a modified version of the National Center for Biotechnology Information's (NCBI) Hackathon-model to take full advantage of local expertise in building "Iron Hack", a rare disease-focused hackathon. As the collaborative, problem-solving nature of hackathons tends to attract participants of highly-diverse backgrounds, organizers facilitated a symposium on rare iron-related diseases, specifically porphyrias and Friedreich's ataxia, pitched at general audiences. Methods : The hackathon was structured to begin each day with presentations by expert clinicians, genetic counselors, researchers focused on molecular and cellular biology, public health/global health, genetics/genomics, computational biology, bioinformatics, biomolecular science, bioengineering, and computer science, as well as guest speakers from the American Porphyria Foundation (APF) and Friedreich's Ataxia Research Alliance (FARA) to inform participants as to the human impact of these diseases. Results : As a result of this hackathon, we developed resources that are relevant not only to these specific disease-models, but also to other rare diseases and general bioinformatics problems. Within two and a half days, "Iron Hack" participants successfully built collaborative projects to visualize data, build databases, improve rare disease diagnosis, and study rare-disease inheritance. Conclusions : The purpose of this manuscript is to demonstrate the utility of a hackathon model to generate prototypes of generalizable tools for a given disease and train clinicians and data scientists to interact more effectively.
Competing Interests: No competing interests were disclosed.
(Copyright: © 2019 Ferreira GC et al.)
References: Mol Cell Neurosci. 2013 Jul;55:50-61. (PMID: 22917739)
Environ Health Prev Med. 2003 Jan;7(6):254-63. (PMID: 21432394)
Ann Clin Transl Neurol. 2019 Feb 27;6(3):546-553. (PMID: 30911578)
Nat Biotechnol. 2015 Mar;33(3):290-5. (PMID: 25690850)
J Biol Chem. 2016 May 27;291(22):11887-98. (PMID: 27026703)
Gut. 2019 Jul;68(7):1323-1330. (PMID: 30796097)
Dis Model Mech. 2017 Nov 1;10(11):1353-1369. (PMID: 29125828)
J Med Genet. 2016 Feb;53(2):111-2. (PMID: 26395054)
Biochemistry. 2010 Jun 22;49(24):4945-56. (PMID: 20481466)
Mitochondrion. 2016 Sep;30:59-66. (PMID: 27350085)
Semin Pediatr Neurol. 2018 Apr;25:54-64. (PMID: 29735117)
Nat Protoc. 2016 Sep;11(9):1650-67. (PMID: 27560171)
Science. 2004 Jul 9;305(5681):242-5. (PMID: 15247478)
N Engl J Med. 2017 Aug 31;377(9):862-872. (PMID: 28854095)
Pract Neurol. 2018 Oct;18(5):352-358. (PMID: 29540448)
Nat Chem Biol. 2006 Oct;2(10):551-8. (PMID: 16921367)
Br Med Bull. 2017 Dec 01;124(1):19-30. (PMID: 29053830)
Clin Sci (Lond). 2016 Jun 1;130(11):853-70. (PMID: 27129098)
PLoS One. 2015 Mar 31;10(3):e0122538. (PMID: 25826316)
Biochemistry. 2004 Dec 28;43(51):16254-62. (PMID: 15610019)
J Neural Transm (Vienna). 2005 Jun;112(6):789-96. (PMID: 15480852)
Blood. 2012 Nov 29;120(23):4496-504. (PMID: 22791288)
Biopreserv Biobank. 2016 Aug;14(4):324-9. (PMID: 27002638)
Biochemistry. 2003 May 27;42(20):5971-6. (PMID: 12755598)
Cerebellum Ataxias. 2017 Apr 7;4:4. (PMID: 28405347)
Gigascience. 2019 Apr 1;8(4):. (PMID: 30942868)
Biochim Biophys Acta Mol Basis Dis. 2018 Apr;1864(4 Pt A):997-1009. (PMID: 29329987)
Crit Rev Biochem Mol Biol. 2006 Sep-Oct;41(5):269-91. (PMID: 16911956)
PLoS Genet. 2013;9(8):e1003709. (PMID: 23990802)
Nat Protoc. 2015 Oct;10(10):1556-66. (PMID: 26379229)
Hum Mol Genet. 2003 Apr 15;12(8):879-89. (PMID: 12668611)
Health Qual Life Outcomes. 2010 Jun 21;8:60. (PMID: 20565969)
N Engl J Med. 2015 Jul 2;373(1):48-59. (PMID: 26132941)
Nucleic Acids Res. 2013 May 1;41(10):e108. (PMID: 23558742)
Mol Genet Metab. 2019 Nov;128(3):320-331. (PMID: 30594473)
Mitochondrion. 2011 Mar;11(2):342-50. (PMID: 21147271)
N Engl J Med. ;377(21):2100-1. (PMID: 29182253)
Bioinformatics. 2012 Oct 1;28(19):2520-2. (PMID: 22908215)
PLoS Comput Biol. 2007 Nov;3(11):e235. (PMID: 18039028)
Free Radic Biol Med. 2007 May 15;42(10):1561-70. (PMID: 17448903)
Dis Model Mech. 2017 Mar 1;10(3):225-233. (PMID: 28093505)
Mol Genet Metab. 2007 Sep-Oct;92(1-2):23-35. (PMID: 17596984)
J Neurochem. 2013 Aug;126 Suppl 1:147-54. (PMID: 23859350)
Sci Data. 2018 Mar 06;5:180021. (PMID: 29509186)
Ann Intern Med. 2005 Mar 15;142(6):439-50. (PMID: 15767622)
Am J Hum Genet. 2001 Jul;69(1):15-24. (PMID: 11391483)
J Biol Chem. 2004 Jun 18;279(25):25943-6. (PMID: 15123683)
J Biomed Inform. 2016 Dec;64:288-295. (PMID: 27810480)
Ann Neurol. 2014 Oct;76(4):509-21. (PMID: 25112865)
Orphanet J Rare Dis. 2009 Sep 10;4:19. (PMID: 19744342)
Cell Syst. 2015 Dec 23;1(6):417-425. (PMID: 26771021)
Genome Biol. 2010;11(10):R106. (PMID: 20979621)
BMC Bioinformatics. 2013 Jan 16;14:7. (PMID: 23323831)
Trends Genet. 2008 Aug;24(8):398-407. (PMID: 18606475)
Am J Med. 2014 Dec;127(12):1233-41. (PMID: 25016127)
J Am Coll Cardiol. 2016 Dec 27;68(25):2831-2849. (PMID: 28007145)
Free Radic Biol Med. 2016 Nov;100:138-146. (PMID: 27296838)
JAMA Dermatol. 2017 Aug 1;153(8):789-796. (PMID: 28614581)
J Neurol. 2009 Mar;256 Suppl 1:3-8. (PMID: 19283344)
J Neurochem. 2013 Aug;126 Suppl 1:43-52. (PMID: 23859340)
Nat Methods. 2015 Apr;12(4):357-60. (PMID: 25751142)
PLoS One. 2013;8(2):e55940. (PMID: 23418481)
Mov Disord. 2013 Feb;28(2):190-5. (PMID: 23239403)
Wiley Interdiscip Rev RNA. 2017 Jan;8(1):. (PMID: 27198714)
Neurodegener Dis Manag. 2016;6(1):49-65. (PMID: 26782317)
Hum Mutat. 2016 Mar;37(3):235-41. (PMID: 26555599)
Hum Mol Genet. 2004 Dec 1;13(23):3007-15. (PMID: 15509595)
Nucleic Acids Res. 2015 Dec 2;43(21):e140. (PMID: 26184878)
Hum Mol Genet. 2012 Jul 1;21(13):2855-61. (PMID: 22447512)
Value Health. 2015 Sep;18(6):906-14. (PMID: 26409619)
N Engl J Med. 2019 Feb 7;380(6):549-558. (PMID: 30726693)
J Biol Chem. 2016 Sep 30;291(40):21296-21321. (PMID: 27519411)
Appl Clin Genet. 2016 Dec 12;9:179-189. (PMID: 28003770)
Lancet. 2010 Mar 13;375(9718):924-37. (PMID: 20226990)
N Engl J Med. 2013 Oct 17;369(16):1502-11. (PMID: 24088041)
Curr Protoc Hum Genet. 2015 Jul 01;86:17.20.1-17.20.26. (PMID: 26132003)
Curr Opin Hematol. 2017 May;24(3):198-207. (PMID: 28118224)
Curr Protoc Hum Genet. 2013 Jan;Chapter 7:Unit7.20. (PMID: 23315928)
Clin Res Hepatol Gastroenterol. 2015 Sep;39(4):412-25. (PMID: 26142871)
Transcription. 2015;6(2):33-6. (PMID: 25831023)
Blood. 2011 Aug 11;118(6):1443-51. (PMID: 21653323)
Hum Mutat. 2016 Nov;37(11):1215-1222. (PMID: 27539938)
Eur J Paediatr Neurol. 2008 Nov;12(6):470-5. (PMID: 18234531)
فهرسة مساهمة: Keywords: Ataxia; Bioinformatics; Clinical Informatics; Data Science; Friedreich’s Ataxia; Hackathon; Porphyria; Rare Diseases
المشرفين على المادة: E1UOL152H7 (Iron)
تواريخ الأحداث: Date Created: 20191212 Date Completed: 20200612 Latest Revision: 20220716
رمز التحديث: 20231215
مُعرف محوري في PubMed: PMC6894363
DOI: 10.12688/f1000research.19140.1
PMID: 31824661
قاعدة البيانات: MEDLINE
الوصف
تدمد:2046-1402
DOI:10.12688/f1000research.19140.1