Rachel Buchan

Faculty of Medicine, National Heart & Lung Institute

Honorary Research Officer

Contact

+44 (0)20 7352 8121 ext 88145rachel.buchan

Location

2047Sydney StreetRoyal Brompton Campus

Summary

Lab manager and Project Coordinator in the Cardiovascular Genetics lab at Royal Brompton campus - specialising in next-generation DNA sequencing.

Project Coordinator for the Heart Hive - an online platform to connect researchers with patients with cardiomyopathy and myocarditis. The Heart Hive participants control their own data, decide which research opportunities to take part in and can feedback directly to researchers to help design more impactful studies.

Rachel graduated from University of Bristol in 2005, completed a Masters degree at Imperial College in 2006 and joined the group in 2007.

Selected Publications

Journal Articles

Mazzarotto F, Tayal U, Buchan RJ, et al.Mazzarotto F, Tayal U, Buchan RJ, Midwinter W, Wilk A, Whiffin N, Govind R, Mazaika E, de Marvao A, Dawes T, Felkin LE, Ahmad M, Theotokis PI, Edwards E, Ing AI, Thomson KL, Chan LLH, Sim D, Baksi AJ, Pantazis A, Roberts AM, Watkins H, Funke B, O'Regan D, Olivotto I, Barton PJR, Prasad SK, Cook SA, Ware JS, Walsh R close, 2020, Re-evaluating the genetic contribution of monogenic dilated cardiomyopathy, Circulation, Vol:141, ISSN:0009-7322, Pages:387-398

Thomson KL, Ormondroyd E, Harper AR, et al.Thomson KL, Ormondroyd E, Harper AR, Dent T, McGuire K, Baksi J, Blair E, Brennan P, Buchan R, Bueser T, Campbell C, Carr-White G, Cook S, Daniels M, Deevi SVV, Goodship J, Hayesmoore JBG, Henderson A, Lamb T, Prasad S, Rayner-Matthews P, Robert L, Sneddon L, Stark H, Walsh R, Ware JS, Farrall M, Watkins HC, NIHR BioResource – Rare Diseases Consortium close, 2019, Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield, Genetics in Medicine, Vol:21, ISSN:1098-3600, Pages:1576-1584

Corden B, Jarman J, Whiffin N, et al.Corden B, Jarman J, Whiffin N, Tayal U, Buchan R, Sehmi J, Harper A, Midwinter W, Lascelles K, Mason M, Baksi J, Pantazis A, Pennell D, Barton P, Prasad S, Wong T, Cook S, Ware J close, 2019, Association between titin truncating variants and life-threatening cardiac arrhythmias in patients with dilated cardiomyopathy and implantable defibrillator, Jama Network Open, Vol:2, ISSN:2574-3805, Pages:1-12

Ware JS, Amor-Salamanca A, Tayal U, et al.Ware JS, Amor-Salamanca A, Tayal U, Govind R, Serrano I, Salazar-Mendiguchia J, Garcia-Pinilla JM, Pascual-Figal DA, Nunez J, Guzzo-Merello G, Gonzalez-Vioque E, Bardaji A, Manito N, Lopez-Garrido MA, Padron-Barthe L, Edwards E, Whiffin N, Walsh R, Buchan RJ, Midwinter W, Wilk A, Prasad S, Pantazis A, Baski J, O'Regan DP, Alsonso-Pulpon A, Cook SA, Lara-Pezzi E, Barton PJ, Garcia-Pavia P close, 2018, A genetic etiology for alcohol-induced cardiac toxicity, Journal of the American College of Cardiology, Vol:71, ISSN:0735-1097, Pages:2293-2302

Whiffin N, walsh R, Govind R, et al.Whiffin N, walsh R, Govind R, Edwards M, Ahmad M, Zhang X, Tayal U, Buchan R, Midwinter W, Wilk A, Najgebauer H, Francis C, Wilkinson S, Monk T, Brett L, O'Regan D, Prasad S, Morris-Rosendahl D, Barton P, Edwards E, Ware J, Cook S close, 2018, CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation, Genetics in Medicine, Vol:20, ISSN:1098-3600, Pages:1246-1254

Walsh R, Buchan R, Wilk A, et al.Walsh R, Buchan R, Wilk A, John S, Felkin L, Thomson KL, Chiaw TH, Chin Woon Loong C, Jian Pua C, Raphael C, Prasad S, Barton P, Funke B, Watkins H, Ware J, Cook SA close, 2017, Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes, European Heart Journal, Vol:38, ISSN:1522-9645, Pages:3461-3468

Tayal U, Newsome S, Buchan R, et al.Tayal U, Newsome S, Buchan R, Whiffin N, Halliday B, Lota A, Roberts A, Baksi AJ, Voges I, Midwinter W, Wilk A, Govind R, Walsh R, Daubeney P, Jarman JWE, Baruah R, Frenneaux M, Barton PJ, Pennell D, Ware JS, Prasad SK, Cook SA close, 2017, Phenotype and clinical outcomes of titin cardiomyopathy, Journal of the American College of Cardiology, Vol:70, ISSN:0735-1097, Pages:2264-2274

Tayal U, Newsome S, Buchan R, et al.Tayal U, Newsome S, Buchan R, Whiffin N, Walsh R, Barton PJ, Ware J, Cook SA, Prasad SK close, 2017, Truncating variants in titin independently predict early arrhythmias in patients with dilated cardiomyopathy, Journal of the American College of Cardiology, Vol:69, ISSN:1558-3597, Pages:2466-2468

rea G, Homfray T, Till J, et al.rea G, Homfray T, Till J, Roses-Noguer F, Buchan RJ, Wilkinson S, Wilk A, Walsh R, John S, McKee S, Stewart FJ, Murday V, Taylor RW, Ashworth M, Baksi AJ, Daubeney P, Prasad S, Barton PJR, Cook SA, ware JS close, 2016, Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11, Cold Spring Harbor Molecular Case Studies, Vol:3, ISSN:2373-2873

Pua CJ, Bhalshankar J, Miao K, et al.Pua CJ, Bhalshankar J, Miao K, Walsh R, John S, Lim SQ, Chow K, Buchan R, Soh BY, Lio PM, Lim J, Schafer S, Lim JQ, Tan P, Whiffin N, Barton PJ, Ware JS, Cook SA close, 2016, Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Journal of Cardiovascular Translational Research, Vol:9, ISSN:1937-5395, Pages:3-11

Tayal U, Mazzarotto F, Buchan R, et al.Tayal U, Mazzarotto F, Buchan R, Walsh R, Barton P, Ware J, Cook S close, 2015, Comprehensive Assessment of Rare Genetic Variation in Dilated Cardiomyopathy Genes in Patients and Controls (vol 101, pg A41, 2015), Heart, Vol:101, ISSN:1355-6037

Roberts AM, Ware JS, Herman DS, et al.Roberts AM, Ware JS, Herman DS, Schafer S, Baksi J, Bick AG, Buchan RJ, Walsh R, John S, Wilkinson S, Mazzarotto F, Felkin LE, Gong S, L MacArthur JA, Cunningham F, Flannick J, Gabriel SB, Altshuler DM, Macdonald PS, Heinig M, Keogh AM, Hayward CS, Banner NR, Pennell DJ, O'Regan DP, San TR, de Marvao A, W Dawes TJ, Gulati A, Birks EJ, Yacoub MH, Radke M, Gotthardt M, Wilson JG, O'Donnell CJ, Prasad SK, Barton PJ, Fatkin D, Hubner N, Seidman JG, Seidman CE, Cook SA close, 2015, Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease, Science Translational Medicine, Vol:7, ISSN:1946-6234, Pages:270ra6-270ra6

Ware JS, John S, Roberts AM, et al.Ware JS, John S, Roberts AM, Buchan R, Gong S, Peters NS, Robinson DO, Lucassen A, Behr ER, Cook SA close, 2013, Next Generation Diagnostics in Inherited Arrhythmia Syndromes, Journal of Cardiovascular Translational Research, Vol:6, ISSN:1937-5387, Pages:94-103

McDermott-Roe C, Ye J, Ahmed R, et al.McDermott-Roe C, Ye J, Ahmed R, Sun XM, Serafin A, Ware J, Bottolo L, Mucket P, Canas X, Zhang J, Rowe GC, Buchan R, Lu H, Braithwaite A, Mancici M, Hauton D, Marti R, García-Arumí E, Hubner N, Jacob H, Serikawa T, Zidek P, Papousek F, Kolar F, Cardona M, Ruiz-Meana M, García-Dorado D, Comella JX, Felkin LE, Barton PJ, Arany Z, Pravenec M, Sanchis D, Cook SA close, 2011, Endonuclease G is a novel determinant of cardiac hypertrophy and mitochondrial function, Nature, Vol:478, Pages:114-118

Heinig M, Petretto E, Wallace C, et al.Heinig M, Petretto E, Wallace C, Bottolo L, Rotival M, Lu H, Li Y, Sarwar R, Langley SR, Bauerfeind A, Hummel O, Lee Y-A, Paskas S, Rintisch C, Saar K, Cooper J, Buchan R, Gray EE, Cyster JG, Erdmann J, Hengstenberg C, Maouche S, Ouwehand WH, Rice CM, Samani NJ, Schunkert H, Goodall AH, Schulz H, Roider HG, Vingron M, Blankenberg S, Muenzel T, Zeller T, Szymczak S, Ziegler A, Tiret L, Smyth DJ, Pravenec M, Aitman TJ, Cambien F, Clayton D, Todd JA, Hubner N, Cook SA close, 2010, A trans-acting locus regulates an anti-viral expression network and type 1 diabetes risk, Nature, Vol:467, ISSN:0028-0836, Pages:460-464

Lu H, Buchan RJ, Cook SA, 2010, MicroRNA-223 regulates Glut4 expression and cardiomyocyte glucose metabolism, Cardiovascular Research, Vol:86, ISSN:0008-6363, Pages:410-420

Conference

Walsh R, Mazzarotto F, Whiffin N, et al.Walsh R, Mazzarotto F, Whiffin N, Buchan R, Li N, Felkin L, Thomson KL, Watkins H, Barton PJR, Olivotto I, Cook SA, Bezzina CR, Ware JS close, 2019, Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases, 52nd Conference of the European-Society-of-Human-Genetics (ESHG), NATURE PUBLISHING GROUP, Pages:1720-1720, ISSN:1018-4813

Author Web Link

Mazzarotto F, Tayal P, Buchan R, et al.Mazzarotto F, Tayal P, Buchan R, Midwinter W, Wilk A, Whiffin N, Govind R, Mazaika E, De Marvao A, Felkin L, Dawes T, Ahmad M, Edwards E, Ing A, Thomson K, Chan L, Sim D, Baksi J, Pantazis A, Roberts A, Watkins H, Funke B, O'Regan D, Olivotto I, Barton P, Prasad S, Cook S, Ware J, Walsh R close, 2019, RE-EVALUATING THE GENETIC CONTRIBUTION OF MONOGENIC DILATED CARDIOMYOPATHY, Annual Conference of the British-Cardiovascular-Society (BCS) - Digital Health Revolution, BMJ PUBLISHING GROUP, Pages:A100-A100, ISSN:1355-6037

Tayal U, Newsome S, Buchan R, et al.Tayal U, Newsome S, Buchan R, Whiffin N, Shakespeare C, Ware J, Cook SA, Prasad SK close, 2016, The presence of a truncating mutation in titin independently associates with arrhythmic burden in patients with dilated cardiomyopathy, Heart Failure 2016 Conference, Wiley, Pages:156-156, ISSN:1879-0844

Rea G, Ware JS, Homfray T, et al.Rea G, Ware JS, Homfray T, Till J, Roses-Noguer F, Buchan R, Wilkinson S, Wilk A, Walsh R, John S, McKee S, Stewart FJ, Murday V, Taylor RW, Baksi AJ, Daubeney P, Prasad S, Barton PJR, Cook SA close, 2016, HISTIOCYTOID CARDIOMYOPATHY AND MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME: PHENOTYPES LINKED BY TRUNCATING VARIANTS IN NDUFB11, Annual Meeting of the British-Congenital-Cardiac-Association, BMJ PUBLISHING GROUP, Pages:A18-A18, ISSN:1355-6037

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