Blood Matters

by Masha Gessen

  As of this writing (September 14, 2007), Connecticut, Georgia, Massachusetts, Mississippi, Montana, Oklahoma, and the District of Columbia still required premarital syphilis tests.

  Much of the information on Dor Yeshorim and Rabbi Ekstein’s quotes come from the following articles, published and unpublished: “From tragedy to triumph: Victory over Tay-Sachs,” manuscript of an article prepared for Jewish Action by Howard Katzenstein. Supplied by Howard Katzenstein; Alexandra Shimo-Barry, “Modern matchmaker: Premarital tests help Hasidim avert genetic disease,” a paper included in a Columbia Journalism School anthology, Race and Ethnicity 2002, available online at http://web.jrn.columbia.edu/studentwork/race/2002/gene-shimo.shtml.

  Transcript of “The DNA Files: Prenatal testing: Do you really want to know your baby’s future?” Sound Vision Productions, 1998; Gina Kolata, “Nightmare or the Dream of a New Era in Genetics?” New York Times, December 7, 1993; Christine Rosen, “Eugenics—Sacred and Profane,” New Atlantis, Summer 2003, 79–89; Mary Jo Layton, “Love v. science? Worldwide program aims to eradicate Jewish birth defect,” Jewish World Review, February 14, 2006; Josef Ekstein and Howard Katzenstein, “The Dor Yeshorim story: Community-based carrier screening for Tay-Sachs disease,” Advances in Genetics 44 (2001): 297; Dor Yeshorim promotional booklet. On bereavement and coping strategies: W. Middleton, B. Raphael, P. Burnett, N. Martinek, “A longitudinal study comparing bereavement phenomena in recently bereaved spouses, adult children and parents,” Australian and New Zealand Journal of Psychiatry 32 (April 1998): 235–241.

  C. Krauth, N. Jalilvand, T. Welte, R. Busse, “Cystic fibrosis: Cost of illness and considerations for the economic evaluation of potential therapies,” Pharmacoeconomics 21 (2003): 1001–1024; T. Havermans, K. De Boeck, “Cystic fibrosis: A balancing act?” Journal of Cystic Fibrosis 6 (July 2006): 161–162.

  F. B. Axelrod, “A world without pain or tears,” Clinical Autonomic Research 16 (April 2006): 90–97; F. B. Axelrod, “Familial dysautonomia: A review of the current pharmacological treatments,” Expert Opinion on Pharmacotherapy 6 (April 2005): 561–567.

  Yeshiva University comments obtained from a student’s blog, http://atowncrier.blogspot.com/2006_04_02_atowncrier_archive.html (accessed July 25, 2006); high school student’s comments obtained from http://bubblyblogely.blogspot.com/2006/04/sorry-for-being-mia.html (accessed July 25, 2006).

  C. Lerman, R. T. Croyle, K. P. Tercyak, H. Hamann, “Genetic testing: Psychological aspects and implications,” Journal of Consulting and Clinical Psychology 70 (June 2002): 784–797.

  The original Colin McGinn article was “Can we solve the mind-body problem?” published in Mind 98 (July 1989): 349–366. The article I recalled was “Out of body, out of mind,” published in Lingua Franca in 1994.

  There is no reliable information on the percentage of women who choose surgery following a positive BRCA mutation result. A review article, S. Wainberg, J. Husted, “Utilization of screening and preventive surgery among unaffected carriers of a BRCA1 or BRCA2 gene mutation,” Cancer Epidemiology Biomarkers & Prevention 13 (December 2004): 1989–1995, found a number of studies with the estimates of those electing surgery ranging from 0 to 54 percent. These were studies from the United States and the Netherlands, where both patients and doctors generally favor a somewhat less invasive attitude toward genetic screening and surgical intervention than their Israeli counterparts. It seems reasonable to assume that the Israeli numbers would be at the top of this spectrum.

  CHAPTER 10: THE FUTURE THE OLD-FASHIONED WAY

  Papers published by Clinic for Special Children staff and others on disorders mentioned in the chapter include:

  Kevin Strauss, D. Holmes Morton, “Branched-chain ketoacyl dehydrogenase deficiency: Maple syrup disease,” Current Treatment Options in Neurology 5 (July 2003): 329–341.

  E. G. Puffenberger, E. R. Kauffman, S. Bolk, T. C. Matise, S. S. Washington, M. Angrist, J. Weissenbach, K. L. Garver, M. Mascari, R. Ladda, et al., “Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22,” Human Molecular Genetics 3 (August 1994): 1217–1225.

  J. Amiel, R. Salomon, T. Attie-Bitach, R. Touraine, J. Steffann, A. Pelet, C. Nihoul-Fekete, M. Vekemans, A. Munnich, S. Lyonnet, “Molecular genetics of Hirschsprung disease: A model of multigenic neurocristopathy,” Journal de la Société de biologie 194 (2000): 125–128; E. G. Puffenberger, K. Hosoda, S. S. Washington, K. Nakao, D. deWit, M. Yanagisawa, A. Chakravart, “A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung’s disease,” Cell 79 (December 1994): 1257–1266.

  Kevin A. Strauss, Erik G. Puffenberger, Donna L. Robinson, D. Holmes Morton, “Type I glutaric aciduria, part 1: Natural history of 77 patients,” American Journal of Medical Genetics Part C 121C (August 2003): 38–52; Kevin A. Strauss, D. Holmes Morton, “Type I glutaric aciduria, part 2: A model of acute striatal necrosis,” American Journal of Medical Genetics Part C 121C (August 2003): 53–70.

  J. J. Higgins, D. H. Morton, J. M. Loveless, “Posterior column ataxia with retinitis pigmentosa (AXPC1) maps to chromosome 1q31-q32,” Neurology 52 (January 1999): 146–150; J. J. Higgins, K. Kluetzman, J. Berciano, O. Combarros, J. M. Loveless, “Posterior column ataxia and retinitis pigmentosa: A distinct clinical and genetic disorder,” Movement Disorders 15 (May 2000): 575–578.

  Kevin Strauss, Erik Puffenberger, Matthew Huentelman, Steven Gottlieb, Seth Dobrin, Jennifer Parod, Dietrich Stephan, Holmes Morton, “Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2,” New England Journal of Medicine 354 (March 30, 2006): 1370–1377.

  K. A. Strauss, G. V. Mazariegos, R. Sindhi, R. Squires, D. N. Finegold, G. Vockley, D. L. Robinson, C. Hendrickson, M. Virji, L. Cropcho, E. G. Puffenberger, W. McGhee, L. M. Seward, D. H. Morton, “Elective liver transplantation for the treatment of classical maple syrup urine disease,” American Journal of Transplantation 6 (March 2006): 557–564; A. Khanna, M. Hart, W. L. Nyhan, T. Hassanein, J. Panyard-Davis, B. A. Barshop, “Domino liver transplantation in maple syrup urine disease,” Liver Transplantation 12 (May 2006): 876–882.

  On the West Virginia T-shirt controversy: Richard Roeper, “A message on a T-shirt? The medium’s not so rare,” Chicago Sun-Times, March 29, 2004.

  On Lorenzo’s Oil, the following article called early results “disappointing”: J. Borel, H. W. Moser, “Dietary management of X-linked adrenoleukodystrophy,” Annual Review of Nutrition 15 (1995): 379–397. But while the oil did not appear to work as a treatment, used in asymptomatic boys it proved helpful: Hugo W. Moser, MD, Gerald V. Raymond, MD, Shou-En Lu, Ph.D., Larry R. Muenz, Ph.D., Ann B. Moser, BA, Jiahong Xu, MS, Richard O. Jones, Ph.D., Daniel J. Loes, MD, Elias R. Melhem, MD, Prachi Dubey, MD, MPH, Lena Bezman, MD, MPH, N. Hong Brereton, MS, RD, Augusto Odone, “Follow-up of 89 asymptomatic patients with adrenoleukodystrophy treated with Lorenzo’s Oil,” Archives of Neurology 62 (July 2005): 1073–1080.

  Articles on Holmes Morton in general-interest publications: Melissa Hendricks, “A doctor who makes barn calls,” Johns Hopkins Magazine, 1994; Tom Shachtman, “Medical sleuth,” Smithsonian, February 2006, p. 23; Lisa Belkin, “A doctor for the future,” New York Times Magazine, November 6, 2005.

  Both the conventional and an alternative view of the genetic testing of children are presented in Rosamond Rhodes, “Why test children for adult-onset diseases?” Mount Sinai Journal of Medicine 73 (May 2006): 609.

  On the impact of age at first period on breast cancer risk: J. Kotsopoulos, J. Lubinski, H. T. Lynch, S. L. Neuhausen, P. Ghadirian, C. Isaacs, B. Weber, C. Kim-Sing, W. D. Foulkes, R. Gershoni-Baruch, P. Ainsworth, E. Friedman, M. Daly, J. E. Garber, B. Karlan, O. I. Olopade, N. Tung, H. M. Saal, A. Eisen, M. Osborne, H. Olsson, D. Gilchrist, P. Sun, S. A. Narod, “Age at menarche and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers,” Cancer Causes and Control 16 (August 2005): 667–674. Whether and how much exercise and diet influence the age when a girl has her f
irst period is still the subject of much controversy. The available evidence indicates that exercise intensity and dietary restrictions may have to be so extreme to influence the onset of the menstrual cycle that any positive effects would be canceled out. Still, some articles point to a link: C. Castelo-Branco, F. Reina, A. D. Montivero, M. Colodron, J. A. Vanrell, “Influence of high-intensity training and of dietetic and anthropometric factors on menstrual cycle disorders in ballet dancers,” Gynecologic Endocrinology 22 (January 2006): 31–35; F. Thomas, F. Renaud, E. Benefice, T. de Meeus, J. F. Guegan, “International variability of ages at menarche and menopause: Patterns and main determinants,” Human Biology 73 (April 2001): 271–290.

  Charles P. Hehmeyer, “The case for universal newborn screening,” Exceptional Parent, August 2001, p. 88.

  On the progress and problems of gene therapy development, see: Larry Thompson, “Human gene therapy: Harsh lessons, high hopes,” FDA Consumer Magazine, September–October 2000; Salima Hacein-Bey-Abina, Marina Cavazzana-Calvo, Alain Fischer, “Gene therapy for severe combined immunodeficiency X1,” Presentation at 11th International Congress of Human Genetics; Josephine Johnston and Françoise Baylis, “What happened to gene therapy? A review of recent events,” Clinical Researcher 4 (January 2004): 11–15; Deanna Cross, James K. Burmester, “Gene therapy for cancer treatment: Past, present and future,” Clinical Medicine & Research 4 (September 2006): 218–227; Sheryl Gay Stolberg, “The Biotech Death of Jesse Gelsinger,” New York Times, November 28, 1999, 137.

  CHAPTER 11: BIOBABBLE

  Lyudmila N. Trut, “Early canid domestication: The farm-fox experiment,” American Scientist, March–April 1999, 160.

  Irene Plyusnina, I. Oskina, “Behavioral and adrenocortical responses to open-field test in rats selected for reduced aggressiveness toward humans,” Psychology & Behavior 61 (March 1997): 381–385.

  Publications on catatonic mice and a potential link to depression and schizophrenia research (in Russian): Institut Tsitologii I Genetiki, Prikladniye Razrabotki: Geneticheskaya model biologicheskoy osnovy predraspolozheniya k shizofrenii; V. G. Kolpakov, A. V. Kulikov, T. A. Alehina, V. F. Chuguy, O. I. Petrenko, N. N. Barykina, “Katatoniya ili depressiya? Liniya krys GK—geneticheskaya zhivotnaya model psikhopatologii,” Genetika 40 (2004): 1–7.

  The “aggression gene” in humans: H. G. Brunner, M. R. Nelen, P. van Zandvoort, N. G. Abeling, A. H. van Gennip, E. C. Wolters, M. A. Kuiper, H. H. Ropers, B. A. van Oost, “X-linked borderline mental retardation with prominent behavioral disturbance: Phenotype, genetic localization, and evidence for disturbed monoamine metabolism,” American Journal of Human Genetics 52 (June 1993): 1032–1039; H. G. Brunner, M. Nelen, X. O. Breakefield, H. H. Ropers, B. A. van Oost, “Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A,” Science 262 (October 1993): 578–580; H. G. Brunner, “MAOA deficiency and abnormal behaviour: Perspectives on an association,” Ciba Foundation Symposium 194 (1995): 155–164; discussion: 164–167.

  Aggressive mice: A. V. Kulikov, D. V. Osipova, V. S. Naumenko, N. K. Popova, “Association between Tph2 gene polymorphism, brain tryptophan hydroxylase activity and aggressiveness in mouse strains,” Genes, Brain and Behavior 4 (November 2005) : 482–485; Nina K. Popova, Larissa N. Maslova, Ekaterina A. Morosova, Veta V. Bulygina, Isabelle Seif, “MAO A knockout attenuates adrenocortical response to various kinds of stress,” Psychoneuroendocrinology 31 (September 2006): 179–186; Nina K. Popova, Galina B. Vishnivetskaya, Elena A. Ivanova, Julia A. Skrinskaya, Isabelle Seif, “Altered behavior and alcohol tolerance in transgenic mice lacking MAO A: A comparison with effects of MAO A inhibitor clorgyline,” Pharmacology, Biochemistry and Behavior 67 (December 2000): 719–727; N. K. Popova, “Geneticheskiy Nokaut—Perviye Shagi I Perspektivy dlya Neyrofiziologii povedeniya,” Uspekhi Fiziologicheskikh Nauk 2 (2000): 3–13; Nina K. Popova, “From genes to aggressive behavior: The role of serotonergic system,” Bioessays 31 (May 2006) : 495.

  Ebstein’s studies of the dopamine receptor gene: A. N. Kluger, Z. Siegfried, R. P. Ebstein, “A meta-analysis of the association between DRD4 polymorphism and novelty seeking,” Molecular Psychiatry 7 (August 15, 2002): 712–717; I. Z. Ben Zion, R. Tessler, L. Cohen, E. Lerer, Y. Raz, R. Bachner-Melman, I. Gritsenko, L. Nemanov, A. H. Zohar, R. H. Belmaker, J. Benjamin, R. P. Ebstein, “Polymorphisms in the dopamine D4 receptor gene (DRD4) contribute to individual differences in human sexual behavior: Desire, arousal and sexual function,” Molecular Psychiatry 11 (August 1, 2006): 782–786; R. Bachner-Melman, I. Gritsenko, L. Nemanov, A. H. Zohar, C. Dina, R. P. Ebstein, “Dopaminergic polymorphisms associated with self-report measures of human altruism: A fresh phenotype for the dopamine D4 receptor,” Molecular Psychiatry 10 (April 1, 2005): 333–335; B. Dan, C. Hagit, N. Lily, R. P. Ebstein, “An association between fibromyalgia and the dopamine D4 receptor exon III repeat polymorphism and relationship to novelty seeking personality traits,” Molecular Psychiatry 9 (November 1, 2004): 730–733; R. P. Ebstein, J. Levine, V. Geller, J. Auerbach, I. Gritsenko, R. H. Belmaker, “Dopamine D4 receptor and serotonin transporter promoter in the determination of neonatal temperament,” Molecular Psychiatry 3 (May 21, 1998): 239–246.

  Shoshana Arbelle, Jonathan Benjamin, Moshe Golin, Ilana Kremer, Robert H. Belmaker, Richard P. Ebstein, “Relation of shyness in grade school children to the genotype for the long form of the serotonin transporter promoter region polymorphism,” American Journal of Psychiatry (April 2003): 671–676.

  Ilana Kremer, Rachel Bachner-Melman, Alon Reshef, Leonid Broude, Lubov Nemanov, Inga Gritsenko, Uriel Heresco-Levy, Yoel Elizur, Richard P. Ebstein, “Association of the serotonin transporter gene with smoking behavior,” American Journal of Psychiatry (May 2005): 924–930.

  Rachel Bachner-Melman, Christian Dina, Ada Zohar, Naama Constantini, Elad Lerer, Sarah Hoch, Sarah Sella, Lubov Nemanov, Inga Gritsenko, Pesach Lichtenberg, Roni Granot, Richard P. Ebstein, “AVPR1a and SLC6A4 gene polymorphisms are associated with creative dance performance,” PLoS Genetics 1 (September 2005): e42.

  Claudia Dreifus, “A conversation with Gino Segre,” The New York Times, August 14, 2007; Henry Fountain, “Ants tend to gravitate to what they do best, researchers show,” New York Times, August 14, 2007; Ingfei Chen, “The beam of light that flips a switch that turns on the brain,” New York Times, August 14, 2007; Abigail Zuger, “Sweatology,” New York Times, August 14, 2007; Carl Zimmer, “Lessons from an insect’s life cycle: Extreme sibling rivalry,” New York Times, August 14, 2007; Gina Kolata, “The myth, the math, the sex,” New York Times, August 12, 2007; Denise Grady, “Deadly inheritance, desperate trade-off,” August 7, 2007; Emily Bazelon, “What autistic girls are made of,” New York Times Magazine, August 5, 2007; Andrew Pollack, “Initial benefit from genetic engineering likely to be medicine,” New York Times, July 30, 2007; Julia Reed, “A natural history of love,” New York Times, July 29, 2007; Anahad O’Connor, “REALLY?; Eating garlic helps repel mosquitoes,” New York Times, July 24, 2007; David Brooks, “A partnership of minds,” July 20, 2007; Nicholas Wade, “Scientists find genetic link for a disorder (Next, respect?),” New York Times, July 19, 2007; Peggy Orenstein, “Your gamete, myself,” New York Times Magazine, July 15, 2007; Shalom Auslander, “Pore me,” New York Times, August 20, 2007; Cintra Wilson, “A (very poised) dance on the table,” New York Times, August 9, 2007; Selena Roberts, “Stewards of sport need a lesson from the pit bosses,” New York Times, July 22, 2007.

  CHAPTER 12: WHAT WE FEAR MOST

  Yury Verlinsky, Anver Kuliev, Practical Preimplantation Genetic Diagnosis (New York: Springer, 2005). Kuliev discusses ethics in chapter 8, beginning on p. 189.

  The development of chorionic villus sampling. In the mid-1970s Chinese scientists try it for determining the sex of the fetus: Department of Obstetrics and Gynecology, Tietung Hospital of Anshan Iron and Steel Company, Anshan. “Fetal sex prediction by sex chromatin of chorionic villi cells during early pregnancy,” Chinese Medical Journal (E
nglish) 1 (1975): 117–126. In the early ’80s Russian and Hungarian researchers report on their early experiments: Z. Kazy, A. M. Sztigar, V. A. Bacharev [Chorionic biopsy under immediate real-time (ultrasonic) control] Orv Hetil 121 (November 1980): 2765–2766 (Article in Hungarian); Z. Kazy, I. S. Rozovsky, V. A. Bakharev, “Chorion biopsy in early pregnancy: A method of early prenatal diagnosis for inherited disorders,” Prenatal Diagnosis 2 (1982): 39–45. American publications follow, and in 1984 an overview appears with the following abstract (quoted in full): “Of all the methods of prenatal diagnosis the implications of chorionic villus biopsy are the most far-reaching and potentially controversial. DNA analysis of the fetus is now possible at the end of the first trimester and it can only be a matter of time before our knowledge of genetic disease markers makes the perfect race a feasibility.” F. E. Loeffler, “Prenatal diagnosis: chorionic villus biopsy,” British Journal of Hospital Medicine 31 (1984): 418–420. The same year Verlinsky and colleagues report on their first twenty-two successful procedures: A. V. Cadkin, N. A. Ginsberg, E. Pergament, Y. Verlinski, “Chorionic villi sampling: A new technique for detection of genetic abnormalities in the first trimester,” Radiology 151 (1984): 159–162.

  Verlinsky’s technique for testing the “discarded” part of the ova: Yury Verlinsky, Norman Ginsberg, Aaron Lifchez, Jorge Valle, Jacob Moise, Charles M. Strom, “Analysis of the first polar body: Preconception genetic diagnosis,” Human Reproduction 5 (1990): 826–829.

  Martha Gellhorn on the Germans: Martha Gellhorn, “Ohne mich: Why I shall never return to Germany,” Granta 42: Krauts! (1990).

  An overview of European laws and attitudes on preimplantation genetics: S. Soini, “Preimplantation genetic diagnosis (PGD) in Europe: diversity of legislation a challenge to the community and its citizens,” Medicine and Law 26 (June 2007): 309–323.