Джон Луома - Время генома: Как генетические технологии меняют наш мир и что это значит для нас

В «Законе об орфанных препаратах» редким заболеванием считается то, от которого в США страдают меньше 200 000 человек.

D. W. Haslam and W. P. James, “Obesity,” Lancet 366, no. 9492 (2005): 1197–209.

W. Yang, T. Kelly, and J. He, “Genetic Epidemiology of Obesity,” Epidemiology Review 29 (2007): 49–61.

По некоторым сведениям, это становится все более популярным среди одиноких женщин в Нью-Йорке.

Robert C. Green et al., “Disclosure of APOE Genotype for Risk of Alzheimer’s Disease,” New England Journal of Medicine 361 (July 16, 2009): 245–54.

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Simon C. Warby et al., “Huntington Disease,” Gene Reviews (last update December 11, 2014), http://www.ncbi.nlm.nih.gov/books/NBK1305/

Margaret R. McLean, “When What We Know Outstrips What We Can Do,” Issues in Ethics 9, no. 2 (Spring 1998), Mark Kula Center for Appped Ethics, Santa Clara University, http://www.scu.edu/ethics/pubpcations/iie/v9n2/outstrips.html

Эти реакции обеспечиваются вегетативной нервной системой.

Edine W. Tiemersma et al., “Natural History of Tuberculosis: Duration and Fatapty of Untreated Pulmonary Tuberculosis in HIV Negative Patients: A Systematic Review,” PLOS One 6, no. 4 (2001): e17601, http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3070694/

“Breeding Out Disease,” transcript, CBS News, October 26, 2014, http://www.cbsnews.com/news/breeding-out-disease-with-reproductive-genetics/

David Baltimore et al., “A Prudent Path Forward for Genomic Engineering and Germpne Gene Modification,” Science 348, no. 6230 (March 19, 2015): 36–38, doi:10.1126/science.aab1028.

Shailaja Gada Saxena and Dhananjaya Saranath, “Single-Cell Polymerase Chain Reaction-Based Pre-Implantation Genetic Diagnosis Using Fragment Analysis for B-Thalassemia in an Indian Couple with B-Globin Gene Mutations,” Journal of Human Reproductive Sciences 5, no. 3 (September – December 2012): 289–92, PMC3604838.

Ethics Committee of the American Society for Reproductive Medicine, “Use of Preimplantation Genetic Diagnosis for Serious Adult Onset Conditions: A Committee Opinion,” Fertipty and Steripty 100, no. 1 (July 2013): 54–57, http://www.asrm.org/globalassets/asrm/asrm-content/news-and-pubpcations/ethics-committee-opinions/use_of_preimplantation_genetic_diagnosis_for_serious_adult-onset_conditions-pdfmembers.pdf.

Там же.

American Academy of Pediatrics, “Ethical and Popcy Issues in Genetic Testing and Screening of Children,” Pediatrics 131, no. 3 (March 2013), http://pediatrics.aappubpcations.org/content/pediatrics/131/3/620.full.pdf.

K. Sermon, “Preimplantation Genetic Diagnosis for Huntington’s Disease with Exclusion Testing,” European Journal of Human Genetics 10, no. 10 (2002): 591–98.

S. Baruch, “Preimplantation Genetic Diagnosis and Parental Preferences: Beyond Deadly Disease,” Houston Journal of Health Law & Popcy 8 (2008): 245–70.

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Catrina Banks Whitley and Kyra Kramer, “A New Explanation for the Reproductive Woes and Midpfe Decpne of Henry VIII,” Historical Journal 53, no. 4 (2010): 827.

W. Dondorp et al., “ESHRE Task Force on Ethics and Law 20: Sex Selection for Non-Medical Reasons,” Human Reproduction 28 (2013): 1448.

Ethics Committee of the American Society for Reproductive Medicine, “Use of Preimplantation Genetic Diagnosis for Serious Adult Onset Conditions.”

“Select the Gender of Your Next Baby,” Fertipty Institutes, http://www.fertipty-docs.com/programs-and-services/gender-selection/select-the-gender-of-your-baby-using-pgd.php, accessed October 14, 2015.

Emily Bazelon, “New Study Exposes Sex-Selective Abortion Bans for What They Are: Just Another Way to Restrict Abortion,” Slate , June 3, 2014, http://www.slate.com/blogs/xx_factor/2014/06/03/sex_selective_abortion_new_study_debunks_the_myth_that_it_is_widespread.html

K. Madan, “Impact of Prenatal Technologies on the Sex Ratio in India,” Genetics in Medicine (June 2014): 425–32.

Там же.

Там же.

Там же.

Там же.

Gallup News Service, “Family Values Differ Sharply Around the World,” November 7, 1997, http://www.gallup.com/poll/4315/family-values-differ-sharply-around-world.aspx.

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Cathy C. Laurie et al. “Detectable Clonal Mosaicism from Birth to Old Age and Its Relationship to Cancer,” Nature Genetics 44, no. 6 (2012): 642–50.

PubMed находится по адресу: http://www.ncbi.nlm.nih.gov/pubmed.

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Очень полезный сайт, посвященный поиску клинических исследований для разных генетических заболеваний и мутаций, в том числе и рака: https://cpnicaltrials.gov/

Massimo Calabresi, “Is Osama bin Laden Dying… Again?” Time , June 30, 2008, http://content.time.com/time/nation/article/0,8599,1819280,00.html.

D. Viljoen, “Congenital Contractural Arachnodactyly (Beals Syndrome),” Journal of Medical Genetics 31, no. 8 (1994): 640–43, PMC 1050028.

Некоторые типы соединительной ткани играют важную роль в предотвращении пролиферации и распространения раковых клеток. Поэтому реакции с участием трансформирующего ростового фактора бета первоначально были описаны в этом контексте и лишь потом выяснилось, что они участвуют и в развитии синдрома Лойса – Дитца, синдрома Марфана и других заболеваний соединительной ткани.

Полное название гена – «Матери против гомолога декапентаплегии 3», SMAD3 – это аббревиатура. Как и многие другие гены, в том числе описанный выше трансформирующий ростовой фактор бета, SMAD3 получил такое яркое название не благодаря своей биологической роли, а по историческим причинам, связанным с его первоначальным открытием и традициями генетических исследований на фруктовой мушке дрозофиле.

American College of Medical Genetics and Genomics, “Points to Consider in the Cpnical Apppcation of Genomic Sequencing,” popcy statement, May 15, 2012, https://www.acmg.net/StaticContent/PPG/Cpnical_Apppcation_of_Genomic_Sequencing.pdf.

Robert C. Green et al., “ACMG Recommendations for Reporting of Incidental Findings in Cpnical Exome and Genome Sequencing,” Genetic Medicine 15, no. 7 (July 2013): 565–74.

Wilson Disease,” National Institute of Diabetes and Digestive and Kidney Diseases, last updated July 23, 2014, http://www.niddk.nih.gov/health-information/health-topics/digestive-diseases/wilson-disease/Pages/facts.aspx#sec6.

Erika Check, “Scientists to Sequence Genomes of Hundreds of Newborns,” Newsblog ( Nature blog), September 4, 2013, http://blogs.nature.com/news/2013/09/scientists-to-sequence-hundreds-of-newborns-genomes.html.