Here Is a Human Being (44 page)

24.
S. Kurtz, “The four-year fight for biological art. Steven Kurtz interviewed by Rachel Courtland,”
Nature,
2008, 453(7196): 707.

25.
Interview with Kay Aull, June 8, 2009.

26.
http://bioweathermap.org/about.html.

27.
http://bioweathermap.org/.

28.
Interview with Kay Aull, June 8, 2009.

29.
Email from Kay Aull, October 14, 2009.

30.
Email from Kay Aull, January 18, 2010.

31.
Email from Kay Aull, January 19, 2010.

32.
Interview with Hugh Rienhoff, December 9, 2008.

33.
Interview with Hugh Rienhoff, May 20, 2008.

34.
Ibid.

35.
R. Maymon and A. Herman, “The clinical evaluation and pregnancy outcome of euploid fetuses with increased nuchal translucency,”
Clinical Genetics,
2004, 66(5): 426–36.

36.
Interview with Hugh Rienhoff, May 20, 2008.

37.
http://www.marfan.org/marfan/2319/Diagnosis.

38.
C. Kroen, “Abraham Lincoln and the ‘Lincoln sign,'”
Cleveland Clinic Journal of Medicine,
2007, 74(2): 108–10.

39.
N. M. Ammash, T. M. Sundt, and H. M. Connolly, “Marfan syndrome—diagnosis and management,”
Current Problems in Cardiology,
2008, 33(1): 7–39.

40.
Interview with Hugh Rienhoff, May 20, 2008.

41.
Interview with Lisa Hane, December 9, 2008.

42.
B. L. Callewaert, B. L. Loeys, A. Ficcadenti, et al., “Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: Report of 14 novel mutations and review of the literature,”
Human Mutation,
2009, 30(3): 334–41.

43.
Email from Hugh Rienhoff, August 7, 2009.

44.
Interview with Hugh Rienhoff, May 20, 2008.

45.
Ibid.

46.
http://wvw.ncbi.nlm.nih.gov/pmc/articles/PMC2227915/.

47.
P. A. Reichart and H. P. Philipsen,
Oral Pathology: Color Atlas of Dental Medicine,
ed. K. H. Rateitschak and H. F. Wolf (New York: Thieme, 2000).

48.
Interview with Hugh Rienhoff, May 20, 2008.

49.
B. L. Loeys, U. Schwarze, T. Holm, et al., “Aneurysm syndromes caused by mutations in the TGF-beta receptor,”
New England Journal of Medicine,
2006, 355(8): 788–98.

50.
Interview with Hugh Rienhoff, May 20, 2008.

51.
H. D. Kollias and J. C. McDermott, “Transforming growth factor–beta and myostatin signaling in skeletal muscle,”
Journal of Applied Physiology,
2008, 104(3): 579–87.

52.
D. Martindale, “Muscle twitch switch,”
Scientific American,
2004, 291(6): 22, 24.

53.
E. M. McNally, “Powerful genes—myostatin regulation of human muscle mass,”
New England Journal of Medicine,
2004, 350(26): 2642–44.

54.
Interview with Hugh Rienhoff, May 20, 2008.

55.
A. C. McPherron, A. M. Lawler, and S. J. Lee, “Regulation of skeletal muscle mass in mice by a new TGF-beta superfamily member,”
Nature,
1997, 387(6628): 83–90.

56.
Interview with Hugh Rienhoff, May 20, 2008.

57.
Ibid.

58.
Ibid.

59.
P. Matt, J. Habashi, T. Carrel, D. E. Cameron, J. E. Van Eyk, and H. C. Dietz, “Recent advances in understanding Marfan syndrome: Should we now treat surgical patients with losartan?”
Journal of Thoracic & Cardiovascular Surgery,
2008, 135(2): 389–94.

60.
Interview with Hal Dietz, December 18, 2008.

61.
E. R. Neptune, P. A. Frischmeyer, D. E. Arking, et al., “Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome,”
Nature Genetics,
2003, 33(3): 407–11.

62.
Interview with Hal Dietz, July 7, 2008.

63.
J. Travis, “Medicine. Old drug, new hope for Marfan syndrome,”
Science,
2006, 312(5770): 36–37.

64.
Interview with Hal Dietz, December 18, 2008.

65.
Interview with Hugh Rienhoff, May 20, 2008.

66.
Ibid.

67.
Interview with Hugh Rienhoff, December 7, 2008.

68.
Ibid.

69.
Ibid.

70.
http://www.marfan.org/marfan/2626/APR—Stanford-University.

71.
B. Koerner, “Decoding Beatrice: A father’s quest,”
Wired,
January 19, 2009.

72.
Interview with Hugh Rienhoff, December 7, 2008.

73.
Ibid.

74.
B. Koerner, “Decoding Beatrice: A father’s quest.”

75.
Interview with Hugh Rienhoff, December 7, 2008.

76.
"Within spitting distance,” Economist.com, November 20, 2007.

77.
B. Maher, “Personal genomics: His daughter’s DNA,”
Nature,
2007, 449(7164): 773–76.

78.
H. Y. Rienhoff, “My daughter’s DNA,”
Make,
December 17, 2008.

79.
B. Koerner, “Decoding Beatrice: A father’s quest.”

80.
http://www.youtube.com/watch?v=4WOaQhjWmRU.

81.
http://mydaughtersdna.org.

82.
Interview with Hugh Rienhoff, December 7, 2008.

83.
Interview with Hugh Rienhoff, May 20, 2008.

84.
Interview with Hal Dietz, July 7, 2008.

85.
Interview with Hugh Rienhoff, December 7, 2008.

86.
Interview with Hugh Rienhoff, August 6, 2009.

87.
Ibid.

88.
Ibid.

CHAPTER 10: “TAKE A CHANCE, WIN A BUNNY”

1.
Interview with Sarah Angrist, June 15, 2007.

2.
J. De Greve, E. Sermijn, S. De Brakeleer, Z. Ren, and E. Teugels, “Hereditary breast cancer: From bench to bedside,”
Current Opinion in Oncology,
2008, 20(6): 605–13.

3.
W. Krause, “Male breast cancer—an andrological disease: Risk factors and diagnosis,”
Andrologia,
2004, 36(6): 346–54.

4.
C. Schubert, “Mary-Claire King,”
Nature Medicine,
2003, 9(6): 633.

5.
K. Davies and M. White,
Breakthrough: The Race to Find the Breast Cancer Gene
(New York: Wiley, 1996).

6.
T. Walsh, S. Casadei, K. H. Coats, et al., “Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer,”
JAMA,
2006, 295(12): 1379–88.

7.
Conversation with Mary-Claire King, October 12, 2008.

8.
Interview with Rich Terry, March 10, 2008.

9.
Interviews with Rich Terry and Greg Porreca, March 10, 2008.

10.
Interview with George Church, March 10, 2008.

11.
http://www.google.com/patents/about?id=QeejAAAAEBAJ&dq=polony&num=100.

12.
J. Karow, “For ABI, developing Agencourt’s sequencing technology is a high priority,”
GenomeWeb Daily News,
June 6, 2006.

13.
K. Davies, “The drive for the $1000 genome,”
Bio-IT World,
May 15, 2007.

14.
http://www.equitygroups.com/nyse/abi/messages/144027.html.

15.
Interview with Kevin McKernan, February 8, 2007.

16.
Interview with Chad Nusbaum, February 2, 2009.

17.
Interview with George Church, July 18, 2007.

18.
Interview with George Church, December 5, 2008.

19.
Interview with George Church, March 16, 2009.

20.
Interview with Chad Nusbaum, February 2, 2009

21.
Interview with Kevin McCarthy, January 2010.

22.
Interview with Greg Porreca, April 16, 2009.

23.
Interview with Kevin McCarthy, January 20, 2010.

24.
Email from George Church, December 14, 2009.

25.
http://ir.helicosbio.com/releasedetail.cfm?ReleaseID=438340.

26.
Interview with George Church, January 18, 2010.

27.
E. Winnick and J. Karow, “Helicos sees five to 10 orders by end ‘08, shows resequencing, gene-expression results,”
In Sequence,
September 30, 2008.

28.
"Helicos to lay off 30 percent of workforce to cut costs; retracts order guidance,”
GenomeWeb Daily News,
December 4, 2008.

29.
L. Timmerman, “Helicos shuffles CEOs, names Lowy to top job,”
Xconomy,
December 2, 2008.

30.
Interview with Steve Lombardi, December 14, 2009.

31.
"Expression Analysis returns Helicos sequencing system,”
GenomeWeb Daily News,
January 30, 2009.

32.
Interview with Steve McPhail, January 23, 2009.

33.
Anonymous, “Expression analysis certified on Illumina platforms,”
GenomeWeb Daily News,
February 15, 2010.

34.
J. Karow, “Helicos installs two instruments in Q2, seeks new funding sources as $5M of cash remain,”
In Sequence,
August 18, 2009.

35.
http://ir.helicosbio.com/releasedetail.cfm?ReleaseID=406880.

36.
Interview with Chad Nusbaum, October 21, 2008.

37.
T. D. Harris, P. R. Buzby, H. Babcock, et al., “Single-molecule DNA sequencing of a viral genome,”
Science,
2008, 320(5872): 106–9.

38.
http://www.genomeweb.com/sequencing/tim-harris-francis-collins.

39.
Interview with Tim Harris, October 22, 2009.

40.
"Helicos to raise $9.4M in private placement,”
GenomeWeb Daily News,
September 16, 2009.

41.
http://www.genomeweb.com/eight-firms-gwdn-index-return-triple-digit-stock-price-increases-09.

42.
D. Pushkarev, N. F. Neff, and S. R. Quake, “Single-molecule sequencing of an individual human genome,”
Nature Biotechnology,
2009, 27(9): 847–52.

43.
F. Ozsolak, A. R. Platt, D. R. Jones, et al., “Direct RNA sequencing,”
Nature,
2009, 461(7265): 814–18.

44.
J. Karow, “High-throughput sequencing gains traction in disease RX in 09; new platforms to enter this year,”
In Sequence,
January 5, 2010.

45.
"Helicos sells four instruments to Riken,”
GenomeWeb Daily News,
September 8, 2009.

46.
K. Lakhman, “Correlagen debuts Helicos-based cardiac panel; is there room for Illumina’s GA2?”
Sample,
October 19, 2009.

47.
J. Karow, “High-throughput sequencing gains traction in disease RX in 09; new platforms to enter this year.”

48.
http://ir.helicosbio.com/secfiling.cfm?filingid=1104659-10-6957.

49.
Interview with Steve Lombardi, February 16, 2010.

50.
Anonymous, “Investment bank drops coverage of helicos biosciences,”
GenomeWeb Daily News,
March 8, 2010.

51.
B. Toner and J. Karow, “Helicos ‘repositioning’ as cash dwindles, institute returns HeliScope, Nasdaq threatens delisting,”
In Sequence,
April 20, 2010.

52.
P. Feugier and J. M. Chevalier, “The Paget-Schroetter syndrome,”
Acta Chirurgica Belgica,
2005, 105(3): 256–64.

53.
D. Wardrop and D. Keeling, “The story of the discovery of heparin and warfarin,”
British Journal of Haematology,
2008, 141(6): 757–63.

54.
D. Kurnik, R. Loebstein, H. Halkin, E. Gak, and S. Almog, “10 years of oral anticoagulant pharmacogenomics: What difference will it make? A critical appraisal,”
Pharmacogenomics,
2009, 10(12): 1955–65.

55.
R. Weinshilboum and L. Wang, “Pharmacogenomics: Bench to bedside,”
Nature Reviews: Drug Discovery,
2004, 3(9): 739–48; R. Sikka, B. Magauran, A. Ulrich, and M. Shannon, “Bench to bedside: Pharmacogenomics, adverse drug interactions, and the cytochrome p450 system,”
Academic Emergency Medicine,
2005, 12(12): 1227–35; S. Sattiraju, S. Reyes, G. C. Kane, and A. Terzic, “K(ATP) channel pharmacogenomics: From bench to bedside,”
Clinical Pharmacology & Therapeutics,
2008, 83(2): 354–57.

56.
A. Gawande,
The Checklist Manifesto: How to Get Things Right
(New York: Metropolitan, 2010); A. Gawande, “The checklist: If something so simple can transform intensive care, what else can it do?”
New Yorker,
2007: 86–101.

57.
J. Laurance, “Peter Pronovost: Champion of checklists in critical care,”
Lancet,
2009, 374(9688): 443.

58.
E. Munoz, W. Munoz 3rd, and L. Wise, “National and surgical health care expenditures, 2005–2025,”
Annals of Surgery,
2010.

59.
Interview with Marilyn Ness, October 19, 2008.

60.
P. L. Hedley, P. Jorgensen, S. Schlamowitz, et al., “The genetic basis of Brugada syndrome: A mutation update,”
Human Mutation,
2009, 30(9): 1256–66.

61.
Email from Joe Thakuria, February 4, 2010.

62.
Interview with George Church, October 19, 2008.

63.
Interview with George Church, Ting Wu, Joe Thankuria, Church’s office, October 19, 2008.

64.
Ibid.

65.
Ibid.

66.
Ibid.

67.
Interview with George Church, October 19, 2008.

68.
J. Zhou and E. A. Shephard, “Mutation, polymorphism and perspectives for the future of human flavin-containing monooxygenase 3,”
Mutation Research,
2006, 612(3): 165–71.

69.
Email from Joe Thakuria, February 4, 2010.

70.
Comments from participants in the second annual gathering of the Personal Genome Project, October 20, 2008.

71.
M. W. Foster, J. J. Mulvihill, and R. R. Sharp, “Evaluating the utility of personal genomic information,”
Genetics in Medicine,
2009, 11(8): 570–74.