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1,452 results on '"Steinberg, Martin H."'

2. Genomic integrity of human induced pluripotent stem cells across nine studies in the NHLBI NextGen program

Author

Kanchan, Kanika, Iyer, Kruthika, Yanek, Lisa R, Carcamo-Orive, Ivan, Taub, Margaret A, Malley, Claire, Baldwin, Kristin, Becker, Lewis C, Broeckel, Ulrich, Cheng, Linzhao, Cowan, Chad, D'Antonio, Matteo, Frazer, Kelly A, Quertermous, Thomas, Mostoslavsky, Gustavo, Murphy, George, Rabinovitch, Marlene, Rader, Daniel J, Steinberg, Martin H, Topol, Eric, Yang, Wenli, Knowles, Joshua W, Jaquish, Cashell E, Ruczinski, Ingo, and Mathias, Rasika A

Subjects
Biological Sciences, Genetics, Stem Cell Research, Stem Cell Research - Induced Pluripotent Stem Cell, Human Genome, Stem Cell Research - Induced Pluripotent Stem Cell - Human, Cancer, Biotechnology, 2.1 Biological and endogenous factors, Cell Differentiation, DNA Copy Number Variations, DNA-Binding Proteins, Genomic Instability, Genomics, Humans, Induced Pluripotent Stem Cells, National Heart, Lung, and Blood Institute (U.S.), United States, hiPSCs, Structural integrity, GWAS, VanillaICE, Oncogenes, Tumor suppressor genes, Medical and Health Sciences, Developmental Biology, Medical biotechnology, Oncology and carcinogenesis
Abstract

Human induced pluripotent stem cell (hiPSC) lines have previously been generated through the NHLBI sponsored NextGen program at nine individual study sites. Here, we examined the structural integrity of 506 hiPSC lines as determined by copy number variations (CNVs). We observed that 149 hiPSC lines acquired 258 CNVs relative to donor DNA. We identified six recurrent regions of CNVs on chromosomes 1, 2, 3, 16 and 20 that overlapped with cancer associated genes. Furthermore, the genes mapping to regions of acquired CNVs show an enrichment in cancer related biological processes (IL6 production) and signaling cascades (JNK cascade & NFκB cascade). The genomic region of instability on chr20 (chr20q11.2) includes transcriptomic signatures for cancer associated genes such as ID1, BCL2L1, TPX2, PDRG1 and HCK. Of these HCK shows statistically significant differential expression between carrier and non-carrier hiPSC lines. Overall, while a low level of genomic instability was observed in the NextGen generated hiPSC lines, the observation of structural instability in regions with known cancer associated genes substantiates the importance of systematic evaluation of genetic variations in hiPSCs before using them as disease/research models.

Published
2020

6. Exagamglogene Autotemcel for Severe Sickle Cell Disease

Author

Frangoul, Haydar, primary, Locatelli, Franco, additional, Sharma, Akshay, additional, Bhatia, Monica, additional, Mapara, Markus, additional, Molinari, Lyndsay, additional, Wall, Donna, additional, Liem, Robert I., additional, Telfer, Paul, additional, Shah, Ami J., additional, Cavazzana, Marina, additional, Corbacioglu, Selim, additional, Rondelli, Damiano, additional, Meisel, Roland, additional, Dedeken, Laurence, additional, Lobitz, Stephan, additional, de Montalembert, Mariane, additional, Steinberg, Martin H., additional, Walters, Mark C., additional, Eckrich, Michael J., additional, Imren, Suzan, additional, Bower, Laura, additional, Simard, Christopher, additional, Zhou, Weiyu, additional, Xuan, Fengjuan, additional, Morrow, Phuong Khanh, additional, Hobbs, William E., additional, and Grupp, Stephan A., additional

Published
2024
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7. Elimination of Vaso-Occlusive Crises after Exagamglogene Autotemcel in Patients with Severe Sickle Cell Disease

Author

Frangoul, Haydar, primary, Locatelli, Franco, additional, Sharma, Akshay, additional, Bhatia, Monica, additional, Mapara, Markus Y., additional, Molinari, Lyndsay, additional, Wall, Donna A., additional, Liem, Robert, additional, Telfer, Paul, additional, Shah, Ami J., additional, Cavazzana, Marina, additional, Corbacioglu, Selim, additional, Rondelli, Damiano, additional, Meisel, Roland, additional, Dedeken, Laurence, additional, Lobitz, Stephan, additional, de Montalembert, Mariane, additional, Steinberg, Martin H., additional, Walters, Mark, additional, Bower, Laura, additional, Imren, Suzan, additional, Shi, Daoyuan, additional, Simard, Christopher, additional, Zhang, Lanju, additional, Morrow, Phuong Khanh, additional, Hobbs, William, additional, and Grupp, Stephan A., additional

Published
2024
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11. Contributors

Author

Allegrucci, Cinzia, primary, Argyriou, Amerikos, additional, Caron, Jérôme, additional, Cheung, Hoi-Hung, additional, Chulpanova, Daria S., additional, Csobonyeiová, M., additional, Dubart-Kupperschmitt, Anne, additional, Eiges, Rachel, additional, Ge, Jingping, additional, Guan, Kaomei, additional, Hämäläinen, Riikka H., additional, Handal, Tayma, additional, Kitaeva, Kristina V., additional, Luo, Jiesi, additional, Modi, Shalem R., additional, Mullagulova, Aysilu I., additional, Murphy, George P., additional, Newman, Katie, additional, Olofsen, Patricia A., additional, Poetsch, Mareike S., additional, Rennert, Owen M., additional, Rizvanov, Albert A., additional, Rojnuckarin, Ponlapat, additional, Shaimardanova, Alisa A., additional, Solovyeva, Valeriya V., additional, Steinberg, Martin H., additional, Touw, Ivo P., additional, Vanuytsel, Kim, additional, Wang, Tao, additional, and Weber, Anne, additional

Published
2021
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15. Genetic Signatures of Exceptional Longevity in Humans

Author

Sebastiani, Paola, Solovieff, Nadia, DeWan, Andrew T, Walsh, Kyle M, Puca, Annibale, Hartley, Stephen W, Melista, Efthymia, Andersen, Stacy, Dworkis, Daniel A, Wilk, Jemma B, Myers, Richard H, Steinberg, Martin H, Montano, Monty, Baldwin, Clinton T, Hoh, Josephine, and Perls, Thomas T

Subjects
Clinical Research, Prevention, Human Genome, Aging, Genetics, Aged, Aged, 80 and over, Alleles, Bayes Theorem, Cohort Studies, Female, Gene Frequency, Genetic Predisposition to Disease, Genome, Human, Genotype, Humans, Longevity, Male, Models, Genetic, Models, Statistical, Polymorphism, Single Nucleotide, General Science & Technology
Abstract

Like most complex phenotypes, exceptional longevity is thought to reflect a combined influence of environmental (e.g., lifestyle choices, where we live) and genetic factors. To explore the genetic contribution, we undertook a genome-wide association study of exceptional longevity in 801 centenarians (median age at death 104 years) and 914 genetically matched healthy controls. Using these data, we built a genetic model that includes 281 single nucleotide polymorphisms (SNPs) and discriminated between cases and controls of the discovery set with 89% sensitivity and specificity, and with 58% specificity and 60% sensitivity in an independent cohort of 341 controls and 253 genetically matched nonagenarians and centenarians (median age 100 years). Consistent with the hypothesis that the genetic contribution is largest with the oldest ages, the sensitivity of the model increased in the independent cohort with older and older ages (71% to classify subjects with an age at death>102 and 85% to classify subjects with an age at death>105). For further validation, we applied the model to an additional, unmatched 60 centenarians (median age 107 years) resulting in 78% sensitivity, and 2863 unmatched controls with 61% specificity. The 281 SNPs include the SNP rs2075650 in TOMM40/APOE that reached irrefutable genome wide significance (posterior probability of association = 1) and replicated in the independent cohort. Removal of this SNP from the model reduced the accuracy by only 1%. Further in-silico analysis suggests that 90% of centenarians can be grouped into clusters characterized by different "genetic signatures" of varying predictive values for exceptional longevity. The correlation between 3 signatures and 3 different life spans was replicated in the combined replication sets. The different signatures may help dissect this complex phenotype into sub-phenotypes of exceptional longevity.

Published
2012

17. A Comprehensive, Ethnically Diverse Library of Sickle Cell Disease-Specific Induced Pluripotent Stem Cells

Author

Park, Seonmi, Gianotti-Sommer, Andreia, Molina-Estevez, Francisco Javier, Vanuytsel, Kim, Skvir, Nick, Leung, Amy, Rozelle, Sarah S., Shaikho, Elmutaz Mohammed, Weir, Isabelle, Jiang, Zhihua, Luo, Hong-Yuan, Chui, David H.K., Figueiredo, Maria Stella, Alsultan, Abdulraham, Al-Ali, Amein, Sebastiani, Paola, Steinberg, Martin H., Mostoslavsky, Gustavo, and Murphy, George J.

Published
2017
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19. Sickle Cell Disease and Stroke

Author

Fujita, Akifumi, Asai, Chie, Chang, Yu-Ming, Kadom, Nadja, Steinberg, Martin H., Saito, Naoko, Sakai, Osamu, Saba, Luca, editor, and Raz, Eytan, editor

Published
2016
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24. Intravascular hemolysis and the pathophysiology of sickle cell disease

Author

Kato, Gregory J., Steinberg, Martin H., and Gladwin, Mark T.

Subjects
Hemolysis -- Physiological aspects -- Research, Sickle cell anemia -- Risk factors -- Research, Pathological physiology -- Research, Health care industry
Abstract

Hemolysis is a fundamental feature of sickle cell anemia that contributes to its pathophysiology and phenotypic variability. Decompartmentalized hemoglobin, arginase 1, asymmetric dimethylarginine, and adenine nucleotides are all products of hemolysis that promote vasomotor dysfunction, proliferative vasculopathy, and a multitude of clinical complications of pulmonary and systemic vasculopathy, including pulmonary hypertension, leg ulcers, priapism, chronic kidney disease, and large-artery ischemic stroke. Nitric oxide (NO) is inactivated by cell- free hemoglobin in a dioxygenation reaction that also oxidizes hemoglobin to methemoglobin, a non-oxygen-binding form of hemoglobin that readily loses heme. Circulating hemoglobin and heme represent erythrocytic danger-associated molecular pattern (eDAMP) molecules, which activate the innate immune system and endothelium to an inflammatory, proadhesive state that promotes sickle vaso-occlusion and acute lung injury in murine models of sickle cell disease. Intravascular hemolysis can impair NO bioavailability and cause oxidative stress, altering redox balance and amplifying physiological processes that govern blood flow, hemostasis, inflammation, and angiogenesis. These pathological responses promote regional vasoconstriction and subsequent blood vessel remodeling. Thus, intravascular hemolysis represents an intrinsic mechanism for human vascular disease that manifests clinical complications in sickle cell disease and other chronic hereditary or acquired hemolytic anemias., Introduction Patients with sickle hemoglobinopathies have variable phenotypes, with different pain frequencies and severity and pleiotropic complications, including lung injury, stroke, cutaneous leg ulceration, kidney injury with proteinuria, osteonecrosis, and [...]

Published
2017
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29. Contributors

Author

Abdel-Wahab, Omar, primary, Abrahm, Janet L., additional, Adams, Sharon, additional, Adewoye, Adeboye H., additional, Allen, Carl, additional, Ambinder, Richard F., additional, Anasetti, Claudio, additional, Anastasi, John, additional, Anderson, Julia A., additional, Antin, Joseph H., additional, Antony, Aśok C., additional, Araten, David J., additional, Armand, Philippe, additional, Armstrong, Gillian, additional, Armstrong, Scott A., additional, Arnold, Donald M., additional, Artz, Andrew S., additional, Awan, Farrukh T., additional, Baglin, Trevor P., additional, Benson, Don M., additional, Benz, Edward J., additional, Berliner, Nancy, additional, Bhagat, Govind, additional, Bhardwaj, Nina, additional, Bhatia, Ravi, additional, Bhatia, Smita, additional, Bhatt, Mihir D., additional, Bhatt, Vijaya Raj, additional, Bitan, Menachem, additional, Blinderman, Craig D., additional, Bollard, Catherine M., additional, Braun, Benjamin S., additional, Brenner, Malcolm K., additional, Brittenham, Gary M., additional, Brodsky, Robert A., additional, Brown, Myles, additional, Broxmeyer, Hal E., additional, Brummel-Ziedins, Kathleen, additional, Brunner, Andrew M., additional, Buadi, Francis K., additional, Burkhardt, Birgit, additional, Burns, Melissa, additional, Byrd, John C., additional, Caimi, Paolo F., additional, Caligiuri, Michael A., additional, Canavan, Michelle, additional, Cantor, Alan B., additional, Carcao, Manuel, additional, Carroll, Michael C., additional, Carty, Shannon A., additional, Castillo, Jorge J., additional, Chan, Anthony K.C., additional, Chapin, John, additional, Chiu, April, additional, Chute, John P., additional, Clark, David B., additional, Coates, Thomas D., additional, Cogle, Christopher R., additional, Connell, Nathan T., additional, Cooke, Elizabeth, additional, Cooley, Sarah, additional, Corradini, Paolo, additional, Creager, Mark A., additional, Creger, Richard J., additional, Cromwell, Caroline, additional, Crowther, Mark A., additional, Cushing, Melissa M., additional, Cutler, Corey, additional, Dang, Chi V., additional, Danial, Nika N., additional, Dave, Sandeep S., additional, DeCaprio, James A., additional, Dinauer, Mary C., additional, Dinner, Shira, additional, Diz-Küçükkaya, Reyhan, additional, Dodd, Roger Y., additional, Donato, Michele L., additional, Dorshkind, Kenneth, additional, Dotti, Gianpietro, additional, Dror, Yigal, additional, Dunleavy, Kieron, additional, Dvorak, Christopher C., additional, Ebert, Benjamin L., additional, Eck, Michael J., additional, Eikelboom, John W., additional, Epperla, Narendranath, additional, Ershler, William B., additional, Evans, William E., additional, Faderl, Stefan, additional, Ferrara, James L.M., additional, Filipovich, Alexandra Hult, additional, Fischer, Martin, additional, Fredenburgh, James C., additional, Friedman, Kenneth D., additional, Fuchs, Ephraim, additional, Fuller, Stephen J., additional, Gailani, David, additional, Galipeau, Jacques, additional, Gallagher, Patrick G., additional, Ganapathi, Karthik A., additional, Gardner, Lawrence B., additional, Gee, Adrian P., additional, Gerson, Stanton L., additional, Gertz, Morie A., additional, Giardina, Patricia J., additional, Gibson, Christopher J., additional, Golan, Karin, additional, Golub, Todd R., additional, Gonzales, Matthew J., additional, Gotlib, Jason, additional, Gottschalk, Stephen, additional, Grant, Marianne A., additional, Graubert, Timothy A., additional, Gregg, Xylina T., additional, Gribben, John G., additional, Gross, Dawn M., additional, Gruber, Tanja A., additional, Guitart, Joan, additional, Gurbuxani, Sandeep, additional, Gur-Cohen, Shiri, additional, Gutierrez, Alejandro, additional, Hamadani, Mehdi, additional, Hari, Parameswaran N., additional, Hartwig, John H., additional, Hayman, Suzanne R., additional, Hayward, Catherine P.M., additional, Hebbel, Robert P., additional, Heslop, Helen E., additional, Hillis, Christopher, additional, Hillyer, Christopher D., additional, Ho, Karin, additional, Hockenbery, David M., additional, Hoffman, Ronald, additional, Hogg, Kerstin E., additional, Holtan, Shernan G., additional, Horny, Hans-Peter, additional, Hsu, Yen-Michael S., additional, Hunter, Zachary R., additional, Huntington, James A., additional, Iancu-Rubin, Camelia, additional, Iqbal, Ali, additional, Isenman, David E., additional, Israels, Sara J., additional, Italiano, Joseph E., additional, Jaffe, Elaine S., additional, Jaffer, Iqbal H., additional, Jagannath, Sundar, additional, Jäger, Ulrich, additional, Jain, Nitin, additional, James, Paula, additional, Jeha, Sima, additional, Jordan, Michael B., additional, Josephson, Cassandra D., additional, Jung, Moonjung, additional, Kager, Leo, additional, Kambayashi, Taku, additional, Kanakry, Jennifer A., additional, Kantarjian, Hagop M., additional, Kaplan, Jason, additional, Karafin, Matthew S., additional, Karsan, Aly, additional, Kaufman, Randal J., additional, Kaufman, Richard M., additional, Keller, Frank G., additional, Kelly, Kara M., additional, Kessler, Craig M., additional, Key, Nigel S., additional, Keyzner, Alla, additional, Khandoga, Alexander G., additional, Khanna-Gupta, Arati, additional, Khatib-Massalha, Eman, additional, Klein, Harvey G., additional, Knoechel, Birgit, additional, Kollet, Orit, additional, Konkle, Barbara A., additional, Kontoyiannis, Dimitrios P., additional, Koreth, John, additional, Koretzky, Gary A., additional, Kotecha, Dipak, additional, Kremyanskaya, Marina, additional, Kumari, Anju, additional, Kuzel, Timothy M., additional, Küppers, Ralf, additional, Lacy, Martha Q., additional, Ladas, Elana, additional, Landier, Wendy, additional, Lapid, Kfir, additional, Lapidot, Tsvee, additional, Larson, Peter J., additional, Levi, Marcel, additional, Lewis, Russell E., additional, Liebman, Howard A., additional, Lillicrap, David, additional, Lim, Wendy, additional, Lin, Judith C., additional, Lindblad, Robert, additional, Lip, Gregory Y.H., additional, Little, Jane A., additional, Lohr, Jens G., additional, López, José A., additional, Luscinskas, Francis W., additional, Maciejewski, Jaroslaw P., additional, Majhail, Navneet S., additional, Manches, Olivier, additional, Mandle, Robert J., additional, Mann, Kenneth G., additional, Manno, Catherine S., additional, Marcogliese, Andrea N., additional, Mariani, Guglielmo, additional, Marincola, Francesco M., additional, Mascarenhas, John, additional, Massberg, Steffen, additional, McEver, Rodger P., additional, McGrath, Emer, additional, McKinney, Matthew S., additional, Mehta, Rohtesh S., additional, Mentzer, William C., additional, Merlini, Giampaolo, additional, Merryman, Reid, additional, Michel, Marc, additional, Migliaccio, Anna Rita, additional, Miller, Jeffrey S., additional, Mims, Martha P., additional, Mondoro, Traci Heath, additional, Moorehead, Paul, additional, Muniz, Luciana R., additional, Munshi, Nikhil C., additional, Najfeld, Vesna, additional, Nayak, Lalitha, additional, Nazy, Ishac, additional, Neff, Anne T., additional, Ness, Paul M., additional, Notarangelo, Luigi D., additional, O'Brien, Sarah H., additional, O'Connor, Owen A., additional, O'Donnell, Martin, additional, Olson, Amanda, additional, Orkin, Stuart H., additional, Pai, Menaka, additional, Pai, Sung-Yun, additional, Paidas, Michael, additional, Panch, Sandhya R., additional, Pande, Reena L., additional, Papayannopoulou, Thalia, additional, Parikh, Rahul, additional, Petersdorf, Effie W., additional, Peterson, Shane E., additional, Pittaluga, Stefania, additional, Ponce, Doris M., additional, Popolo, Laura, additional, Prchal, Josef T., additional, Pui, Ching-Hon, additional, Puigserver, Pere, additional, Rak, Janusz, additional, Ramos, Carlos A., additional, Rand, Jacob H., additional, Rand, Margaret L., additional, Rao, Dinesh S., additional, Ravandi, Farhad, additional, Rawlings, David J., additional, Reddy, Pavan, additional, Reding, Mark T., additional, Reiter, Andreas, additional, Rice, Lawrence, additional, Riese, Matthew J., additional, Ritchey, Arthur Kim, additional, Roberts, David J., additional, Roman, Elizabeth, additional, Rooney, Cliona M., additional, Rosen, Steven T., additional, Rosenthal, David S., additional, Rossmann, Marlies P., additional, Rot, Antal, additional, Rowley, Scott D., additional, Rubnitz, Jeffrey E., additional, Rydz, Natalia, additional, Salama, Mohamed E., additional, Sauk, Steven, additional, Saunthararajah, Yogen, additional, Savage, William, additional, Scadden, David, additional, Schaefer, Kristen G., additional, Schiffman, Fred, additional, Schneidewend, Robert, additional, Schrier, Stanley L., additional, Schuchman, Edward H., additional, Scullion, Bridget Fowler, additional, Selvaggi, Kathy J., additional, Senoo, Keitaro, additional, Shaheen, Montaser, additional, Shaz, Beth H., additional, Shelburne, Samuel A., additional, Shpall, Elizabeth J., additional, Shurin, Susan B., additional, Siegal, Deborah, additional, Silberstein, Leslie E., additional, Silberstein, Lev, additional, Silverstein, Roy L., additional, Sloan, Steven R., additional, Smith, Franklin O., additional, Smith, James W., additional, Smith, Katy, additional, Steensma, David P., additional, Steinberg, Martin H., additional, Stock, Wendy, additional, Storry, Jill R., additional, Stramer, Susan L., additional, Strauss, Ronald G., additional, Stroncek, David F., additional, Taylor, Justin, additional, Thota, Swapna, additional, Treon, Steven P., additional, Tulpule, Anil, additional, Valdes, Roberto Ferro, additional, Valent, Peter, additional, Vedantham, Suresh, additional, Vercellotti, Gregory M., additional, Verneris, Michael R., additional, Vichinsky, Elliott P., additional, von Andrian, Ulrich H., additional, Vose, Julie M., additional, Wagner, Andrew J., additional, Wang, Ena, additional, Wang, Jia-huai, additional, Warkentin, Theodore E., additional, Wasserstein, Melissa P., additional, Webster, Ann, additional, Weisdorf, Daniel J., additional, Weitz, Jeffrey I., additional, Westhoff, Connie M., additional, Wheeler, Allison P., additional, Widick, Page, additional, Wiley, James S., additional, William, Basem M., additional, Williams, David A., additional, Wilson, Wyndham H., additional, Wolfe, Joanne, additional, Wolgast, Lucia R., additional, Wood, Deborah, additional, Wu, Jennifer, additional, Yahalom, Joachim, additional, Yee, Donald L., additional, Younes, Anas, additional, Young, Neal S., additional, and Zeller, Michelle P., additional

Published
2018
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35. miRNA Expression Associated with HbF in Saudi Sickle Cell Anemia

Author

Cyrus, Cyril, primary, Vatte, Chittibabu, additional, Al-Nafie, Awatif, additional, Chathoth, Shahanas, additional, Akhtar, Mohammed S., additional, Darwish, Mohammed, additional, Almohazey, Dana, additional, AlDubayan, Saud H., additional, Steinberg, Martin H., additional, and Al-Ali, Amein, additional

Published
2022
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37. The aryl hydrocarbon receptor directs hematopoietic progenitor cell expansion and differentiation

Author

Smith, Brenden W., Rozelle, Sarah S., Leung, Amy, Ubellacker, Jessalyn, Parks, Ashley, Nah, Shirley K., French, Deborah, Gadue, Paul, Monti, Stefano, Chui, David H.K., Steinberg, Martin H., Frelinger, Andrew L., Michelson, Alan D., Theberge, Roger, McComb, Mark E., Costello, Catherine E., Kotton, Darrell N., Mostoslavsky, Gustavo, Sherr, David H., and Murphy, George J.

Published
2013
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38. Fetal hemoglobin in sickle cell anemia: Genetic studies of the Arab-Indian haplotype

Author

Ngo, Duyen, Bae, Harold, Steinberg, Martin H., Sebastiani, Paola, Solovieff, Nadia, Baldwin, Clinton T., Melista, Efthymia, Safaya, Surinder, Farrer, Lindsay A., Al-Suliman, Ahmed M., Albuali, Waleed H., Al Bagshi, Muneer H., Naserullah, Zaki, Akinsheye, Idowu, Gallagher, Patrick, Luo, Hong-yuan, Chui, David H.K., Farrell, John J., Al-Ali, Amein K., and Alsultan, Abdulrahman

Published
2013
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43. Cell-based Genetic Therapy for the Induction of Foetal Haemoglobin in Sickle Cell Disease and Transfusion-dependent β-thalassaemia.

Author

Steinberg, Martin H.

Subjects
*SICKLE cell anemia, *HEMOGLOBINS, *HEMATOPOIETIC stem cells, *GLOBIN genes, *GENE therapy, *PURE red cell aplasia
Abstract

Sickle cell disease and ß-thalassaemia can be ameliorated or perhaps even 'cured' if most erythrocytes can be induced to contain high levels of foetal haemoglobin. While this is not yet possible using foetal haemoglobin-inducing drugs, it might be feasible with cell-based gene therapy. After mobilization of autologous haematopoietic stem and progenitor cells, these cells are engineered with vectors that lead to the derepression of foetal haemoglobin genes or add a globin gene that mimics the effects of foetal haemoglobin. Auto-transplantation after myeloablative conditioning is associated with levels of foetal haemoglobin or an antisickling haemoglobin of about 40% of total haemoglobin. In nearly every patient symptoms of sickle cell disease disappear; patients with ß-thalassaemia rarely require blood transfusions. In both groups of patients anaemia is absent or minimal. Optimistically, treated patients appear functionally 'cured'. These are very early days of gene therapy. Less than 200 patients have been followed, usually for no more than 5 years. It is highly likely that improved methods that are being intensively studied will simplify gene therapy leading to its wider applicability for individuals with these very common monogenic diseases. [ABSTRACT FROM AUTHOR]

Published
2023
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48. A 3-bp deletion in the HBS1L-MYB intergenic region on chromosome 6q23 is associated with HbF expression

Author

Farrell, John J., Sherva, Richard M., Chen, Zhi-yi, Luo, Hong-yuan, Chu, Benjamin F., Ha, Shau Yin, Li, Chi Kong, Lee, Anselm C.W., Li, Rever C.H., Li, Chi Keung, Yuen, Hui Leung, So, Jason C.C., Ma, Edmond S.K., Chan, Li Chong, Chan, Vivian, Sebastiani, Paola, Farrer, Lindsay A., Baldwin, Clinton T., Steinberg, Martin H., and Chui, David H.K.

Published
2011
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