Episode 1 Notes and Links
Naveen Pereira talks to Amit Khera, Cardiologist at Massachusetts General Hospital, about his recent paper in the New England Journal of Medicine:
Khera AV, Emdin CA, Drake I, Natarajan P, Bick AG, Cook NR, Chasman DI, Baber U, Mehran R, Rader DJ, Fuster V, Boerwinkle E, Melander O, Orho-Melander M, Ridker PM, Kathiresan S. Genetic Risk, Adherence to a Healthy Lifestyle, and Coronary Disease. N Engl J Med. 2016 Dec 15;375(24):2349-2358. Epub 2016 Nov 13. Full Text Article; PubMed Abstract
Precision Medicine Paper Round-Up: Dec 2016 - Jan 2017
Ladapo JA, Budoff M, Sharp D, Zapien M, Huang L, Maniet B, Herman L, Monane M. Clinical Utility of a Precision Medicine Test Evaluating Outpatients with Suspected Obstructive Coronary Artery Disease. Am J Med. 2016 Dec 16. Full Text Article; PubMed Abstract
Bartunek J, Terzic A, Davison BA, Filippatos GS, Radovanovic S, Beleslin B, Merkely B, Musialek P, Wojakowski W, Andreka P, Horvath IG, Katz A, Dolatabadi D, El Nakadi B, Arandjelovic A, Edes I, Seferovic PM, Obradovic S, Vanderheyden M, Jagic N, Petrov I, Atar S, Halabi M, Gelev VL, Shochat MK, Kasprzak JD, Sanz-Ruiz R, Heyndrickx GR, Nyolczas N, Legrand V, Guédès A, Heyse A, Moccetti T, Fernandez-Aviles F, Jimenez-Quevedo P, Bayes-Genis A, Hernandez-Garcia JM, Ribichini F, Gruchala M, Waldman SA, Teerlink JR, Gersh BJ, Povsic TJ, Henry TD, Metra M, Hajjar RJ, Tendera M, Behfar A, Alexandre B, Seron A, Stough WG, Sherman W, Cotter G, Wijns W; CHART Program. Cardiopoietic cell therapy for advanced ischemic heart failure: results at 39 weeks of the prospective, randomized, double blind, sham-controlled CHART-1 clinical trial. Eur Heart J. 2016 Dec 23. Full Text Article; PubMed Abstract
AHA FGTB Scientific Statement Highlight
Ferguson JF, Allayee H, Gerszten RE, Ideraabdullah F, Kris-Etherton PM, Ordovás JM, Rimm EB, Wang TJ, Bennett BJ; American Heart Association Council on Functional Genomics and Translational Biology, Council on Epidemiology and Prevention, and Stroke Council. Nutrigenomics, the Microbiome, and Gene-Environment Interactions: New Directions in Cardiovascular Disease Research, Prevention, and Treatment: A Scientific Statement From the American Heart Association. Circ Cardiovasc Genet. 2016 Jun;9(3):291-313. Full Text Article; PubMed Abstract
Episode 2 Notes and Links
In this episode Kiran Musunuru interviews Dr. Erik Ingelsson from Stanford University, about a recent paper he and colleagues published in Circulation Cardiovascular Genetics regarding epigenetic patterns that predict coronary heart disease. Naveen and Jane discuss the hype surrounding precision medicine, and Jane highlights a Science Advisory from the Functional Genomics and Translational Biology (FGTB) on merging genomics data with the electronic health record.
Hedman ÅK, Mendelson MM, Marioni RE, Gustafsson S, Joehanes R, Irvin MR, Zhi D, Sandling JK, Yao C, Liu C, Liang L, Huan T, McRae AF, Demissie S, Shah S, Starr JM, Cupples LA, Deloukas P, Spector TD, Sundström J, Krauss RM, Arnett DK, Deary IJ, Lind L, Levy D, Ingelsson E. Epigenetic Patterns in Blood Associated With Lipid Traits Predict Incident Coronary Heart Disease Events and Are Enriched for Results From Genome-Wide Association Studies. Circ Cardiovasc Genet. 2017 Jan;10(1). pii: e001487. doi: 10.1161/CIRCGENETICS.116.001487. PMID: 28213390 Full Text Article; PubMed Abstract
Precision Medicine Papers
Khoury MJ and Galea S. Will Precision Medicine Improve Population Health? JAMA. 2016;316(13):1357-1358.
Hoosien M and Elshazly MB. Evaluating Precision Medicine’s Ability to Improve Population Health. JAMA. 2017;317(4):440-441.
Khoury MJ and Galea S. Evaluating Precision Medicine’s Ability to Improve Population Health—Reply. JAMA. 2017;317(4):441.
Loupy A, Duong Van Huyen JP, Hidalgo L, Reeve J, Racapé M, Aubert O, Venner JM, Falmuski K, Bories MC, Beuscart T, Guillemain R, François A, Pattier S, Toquet C, Gay A, Rouvier P, Varnous S, Leprince P, Empana JP, Lefaucheur C, Bruneval P, Jouven X, Halloran PF. Gene Expression Profiling for the Identification and Classification of Antibody-Mediated Heart Rejection. Circulation. 2017 Mar 7;135(10):917-935. Full Text Article; PubMed Abstract
AHA FGTB Science Advisory Highlight
Hall JL, Ryan JJ, Bray BE, Brown C, Lanfear D, Newby LK, Relling MV, Risch NJ, Roden DM, Shaw SY, Tcheng JE, Tenenbaum J, Wang TN, Weintraub WS, and on behalf of the American Heart Association Professional and Public Education and Publications Committee of the Council on Functional Genomics and Translational Biology, Council on Clinical Cardiology, Council on Epidemiology and Prevention, Council on Quality of Care and Outcomes Research, and Stroke Council. Merging Electronic Health Record Data and Genomics for Cardiovascular Research. A Science Advisory From the American Heart Association. Circulation: Cardiovascular Genetics. 2016;9:193-202. Originally published March 14, 2016. Full Text Article; PubMed Abstract
Episode 3 Notes and Links
In this episode Jane Ferguson interviews Dr. Jonathan Mosley from Vanderbilt University, about two recent papers he and colleagues published in Circulation Cardiovascular Genetics regarding implementing an approach to combine data from prospective studies with large-scale electronic health record data to study the genetic architecture of disease.. Naveen and Jane discuss some recent publications in precision medicine, and we highlight a Scientific Statement from the FGTB Council on Genetic Literacy.
Mosley JD, van Driest SL, Wells QS, Shaffer CM, Edwards TL, Bastarache L, McCarty CA, Thompson W, Chute CG, Jarvik GP, Crosslin DR, Larson EB, Kullo IJ, Pacheco JA, Peissig PL, Brilliant MH, Linneman JG, Denny JC, Roden DM. Defining a Contemporary Ischemic Heart Disease Genetic Risk Profile Using Historical Data. Circ Cardiovasc Genet. 2016 Dec;9(6):521-530. PMID: 27780847. Full Text Article; PubMed Abstract
Mosley JD, Shoemaker MB, Wells QS, Darbar D, Shaffer CM, Edwards TL, Bastarache L, McCarty CA, Thompson W, Chute CG, Jarvik GP, Crosslin DR, Larson EB, Kullo IJ, Pacheco JA, Peissig PL, Brilliant MH, Linneman JG, Witte JS, Denny JC, Roden DM. Investigating the Genetic Architecture of the PR Interval Using Clinical Phenotypes. Circ Cardiovasc Genet. 2017 Apr;10(2). PMID: 28416512. Full Text Article; PubMed Abstract
Precision Medicine Papers
Lubitz SA, Yin X, Lin HJ, Kolek M, Smith JG, Trompet S, Rienstra M, Rost NS, Teixeira PL, Almgren P, Anderson CD, Chen LY, Engström G, Ford I, Furie KL, Guo X, Larson MG, Lunetta KL, Macfarlane PW, Psaty BM, Soliman EZ, Sotoodehnia N, Stott DJ, Taylor KD, Weng LC, Yao J, Geelhoed B, Verweij N, Siland JE, Kathiresan S, Roselli C, Roden DM, van der Harst P, Darbar D, Jukema JW, Melander O, Rosand J, Rotter JI, Heckbert SR, Ellinor PT, Alonso A, Benjamin EJ; AFGen Consortium. Genetic Risk Prediction of Atrial Fibrillation. Circulation. 2017;135:1311-1320; Full Text Article; PubMed Abstract
Strauss DG, Vicente J, Johannesen L, Blinova K, Mason JW, Weeke P, Behr ER, Roden DM, Woosley R, Kosova G, Rosenberg MA, Newton-Cheh C. Common Genetic Variant Risk Score Is Associated With Drug-Induced QT Prolongation and Torsade de Pointes Risk: A Pilot Study. Circulation. 2017;135:1300-1310; Full Text Article; PubMed Abstract
Fourey D, Care M, Siminovitch KA, Weissler-Snir A, Hindieh W, Chan RH, Gollob MH, Rakowski H, Adler A. Prevalence and Clinical Implication of Double Mutations in Hypertrophic Cardiomyopathy: Revisiting the Gene-Dose Effect. Circulation: Cardiovascular Genetics. 2017;10:e001685; Full Text Article; PubMed Abstract
Cummings BB, Marshall JL, Tukiainen T, Lek M, Donkervoort S, Foley AR, Bolduc V, Waddell LB, Sandaradura SA, O'Grady GL, Estrella E, Reddy HM, Zhao F, Weisburd B, Karczewski KJ, O'Donnell-Luria AH, Birnbaum D, Sarkozy A, Hu Y, Gonorazky H, Claeys K, Joshi H, Bournazos A, Oates EC, Ghaoui R, Davis MR, Laing NG, Topf A; Genotype-Tissue Expression Consortium, Kang PB, Beggs AH, North KN, Straub V, Dowling JJ, Muntoni F, Clarke NF, Cooper ST, Bönnemann CG, MacArthur DG. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Sci Transl Med. 2017 Apr 19;9(386). Full Text Article; PubMed Abstract
AHA FGTB Scientific Statement Highlight
Mital S, Musunuru K, Garg V, Russell MW, Lanfear DE, Gupta RM, Hickey KT, Ackerman MJ, Perez MV, Roden DM, Woo D, Fox CS, Ware S; American Heart Association Council on Functional Genomics and Translational Biology; Council on Cardiovascular Disease in the Young; Council on Cardiovascular and Stroke Nursing; Stroke Council; Council on Lifestyle and Cardiometabolic Health; and Council on Quality of Care and Outcomes Research. Enhancing Literacy in Cardiovascular Genetics: A Scientific Statement From the American Heart Association. Circ Cardiovasc Genet. 2016 Oct;9(5):448-467. PMID: 27672144. Full Text Article; PubMed Abstract
Episode 4 Notes and Links
In this special feature-length episode, Early Career Committee member Andrew Landstrom went to the Heart Rhythm Society Scientific Sessions, in Chicago May 10-13 2017, and talked to the presenters of some of the most exciting science.
First, Andrew talked to Dr. Anneline te Riele from the Netherlands Heart Institute and Johns Hopkins School of Medicine about the research she presented at HRS, and recently published.
Te Riele AS, Agullo-Pascual E, James CA, Leo-Macias A, Cerrone M, Zhang M, Lin X, Lin B, Sobreira NL, Amat-Alarcon N, Marsman RF, Murray B, Tichnell C, van der Heijden JF, Dooijes D, van Veen TA, Tandri H, Fowler SJ, Hauer RN, Tomaselli G, van den Berg MP, Taylor MR, Brun F, Sinagra G, Wilde AA, Mestroni L, Bezzina CR, Calkins H, Peter van Tintelen J, Bu L, Delmar M, Judge DP. Multilevel analyses of SCN5A mutations in arrhythmogenic right ventricular dysplasia/cardiomyopathy suggest non-canonical mechanisms for disease pathogenesis. Cardiovasc Res. 2017 Jan;113(1):102-111. PMID: 28069705. Full Text Article; PubMed Abstract
Andrew also spoke with Dr. Ernesto Fernandez, from the Baylor College of Medicine and Texas Childrens Hospital, about his research investigating incidental findings from whole exome sequencing of variants associated with Long QT Syndrome.
Ernesto Fernandez, MD, Andrew Dailey-Schwartz, MD, MPH, Jill A. Rosenfeld, MS, Yaping Yang, PhD, Hugh D. Allen, MD, Daniel J. Penny, MD, PhD, Jeffrey J. Kim, MD, Christina Y. Miyake, MD, MSc and Andrew P. Landstrom, MD, PhD. C-AB18-01 - Incidentally identified variants in genes associated with long QT syndrome among whole exome genetic test referrals. Presented at Heart Rhythm Scientific Sessions May. 11, 2017, 1:30 - 1:45 PM. Abstract
Finally, Andrew spoke with David Tester from the Mayo Clinic, about his research utilizing high-throughput sequencing to understand genetic causes of Sudden Infant Death Syndrome (SIDS).
David Tester, BS, Leonie Wong, MBChB, Pritha Chanana, MS, Amie Jaye, MSc, David R. FitzPatrick, MD, FRCP, Margaret Evans, MBChB, Peter Fleming, PhD, FRCP, Iona Jeffrey, MBChB, Marta Cohen, MD, Michael Simpson, PhD, Elijah R. Behr, MD, MBBS and Michael J. Ackerman, MD, PhD. C-AB23-01 - Whole Exome Sequencing in Sudden Infant Death Syndrome: The Yield and Significance of Novel and Cardiac Genetic Variation. Presented at Heart Rhythm Scientific Sessions May. 12, 2017, 1:30 - 1:45 PM. Abstract
Episode 5 Notes and Links
This month, we consider the importance of mentoring in career development, and discuss some recent papers in the field of precision medicine. We talked to Dr. Anna Pilbrow, from the University of Otago, about the Mentoring Program coordinated by the FGTB Early Career Committee. This program provides individualized matching, to pair mentees with their ideal mentor. Sign up to be a mentee, or a mentor, by completing the forms on the AHA FGTB website: For people early in their career, or who want to learn a particular new skill or technique: MENTEE APPLICATION FORM For more senior people, or early career people who want to become a peer mentor: MENTOR APPLICATION FORM
Jane and Naveen discussed the following papers:
Ingles J, Burns C, Bagnall RD, Lam L, Yeates L, Sarina T, Puranik R, Briffa T, Atherton JJ, Driscoll T, Semsarian C. Nonfamilial Hypertrophic Cardiomyopathy: Prevalence, Natural History, and Clinical Implications. Circ Cardiovasc Genet. 2017 Apr;10(2). pii: e001620. Full Text Article; PubMed Abstract
Weng SF, Reps J, Kai J, Garibaldi JM, Qureshi N. Can machine-learning improve cardiovascular risk prediction using routine clinical data? PLoS One. 2017 Apr 4;12(4):e0174944. Full Text Article; PubMed Abstract
Episode 6 Notes and Links
Jane and Naveen discussed the following papers:
Scragg R, Stewart AW, Waayer D, Lawes CMM, Toop L, Sluyter J, Murphy J, Khaw KT, Camargo CA Jr. Effect of Monthly High-Dose Vitamin D Supplementation on Cardiovascular Disease in the Vitamin D Assessment Study : A Randomized Clinical Trial. JAMA Cardiol. 2017 Jun 1;2(6):608-616. Full Text Article; PubMed Abstract
Rejnmark L, Bislev LS, Cashman KD, Eiríksdottir G, Gaksch M, Grübler M, Grimnes G, Gudnason V, Lips P, Pilz S, van Schoor NM, Kiely M, Jorde R. Non-skeletal health effects of vitamin D supplementation: A systematic review on findings from meta-analyses summarizing trial data. PLoS One. 2017 Jul 7;12(7):e0180512. Full Text Article; PubMed Abstract
Lappe J, Watson P, Travers-Gustafson D, Recker R, Garland C, Gorham E, Baggerly K, McDonnell SL. Effect of Vitamin D and Calcium Supplementation on Cancer Incidence in Older Women: A Randomized Clinical Trial. JAMA. 2017 Mar 28;317(12):1234-1243. Full Text Article; PubMed Abstract
Kolata, G. Why Are So Many People Popping Vitamin D? The New York Times, April 10 2017. Article
Vaughan-Shaw PG, O'Sullivan F, Farrington SM, Theodoratou E, Campbell H, Dunlop MG, Zgaga L. The impact of vitamin D pathway genetic variation and circulating 25-hydroxyvitamin D on cancer outcome: systematic review and meta-analysis. Br J Cancer. 2017 Apr 11;116(8):1092-1110. Full Text Article; PubMed Abstract
Episode 7 Notes and Links
This month Dr. Anwar Chahal from the Mayo Clinic talked to Dr. Calum MacRae from the Brigham and Women’s Hospital. Their conversation covered One Brave Idea, training for Cardiovascular Fellows in Genomic Medicine, and Pearls of Wisdom from Dr. MacRae. A segment of the interview is included in the regular podcast, and the full conversation is available separately for everyone who wants to hear more.
Aday AW, MacRae CA. Genomic Medicine in Cardiovascular Fellowship Training. Circulation. 2017 Jul 25;136(4):345-346. Full Text Article
Zahavich L, Bowdin S, Mital S. Use of Clinical Exome Sequencing in Isolated Congenital Heart Disease. Circ Cardiovasc Genet. 2017 Jun;10(3). Full Text Article
Episode 8 Notes and Links
In this Episode we talked to Dr. Nathan Tucker and Dr. Elena Dolmatova, about their recent publication in Circulation: Cardiovascular Genetics.
Tucker NR, Dolmatova EV, Lin H, Cooper RR, Ye J, Hucker WJ, Jameson HS, Parsons VA, Weng LC, Mills RW, Sinner MF, Imakaev M, Leyton-Mange J, Vlahakes G, Benjamin EJ, Lunetta KL, Lubitz SA, Mirny L, Milan DJ, Ellinor PT. Diminished PRRX1 Expression Is Associated With Increased Risk of Atrial Fibrillation and Shortening of the Cardiac Action Potential. Circ Cardiovasc Genet. 2017;10:e001902 Full Text Article; PubMed Abstract
Episode 9 Notes and Links
We traveled to the American Society of Human Genetics (ASHG) Scientific Sessions in Orlando Florida. You can hear about the research of four presenters in our Virtual Poster Session: Dr. Gemma Cadby from the University of Western Australia, Dr. Sylwia Figarska from Stanford University, Dr. Marketa Sjogren from Lund University, and Dr. Jessica van Setten from University Medical Center Utrecht.
Episode 10 Notes and Links
On the road again in Anaheim, CA, for the American Heart Associate Scientific Sessions.