Search

Your search keyword '"Jennifer N. Kraszewski"' showing total 9 results
Start Over Author "Jennifer N. Kraszewski"
9 results on '"Jennifer N. Kraszewski"'

1. Pilot study of population-based newborn screening for spinal muscular atrophy in New York state

Author

Ritu Jain, Jennifer N Kraszewski, Bianca Haser, Michele Caggana, Carrie Koval, Nicole M. LaMarca, Sally Dunaway Young, Wendy K. Chung, Anthony Albertorio, Colleen F. Stevens, Sarah P Andrew, Darryl C. De Vivo, Denise M. Kay, Lilian L. Cohen, and Veronica Ortiz

Subjects
0301 basic medicine, Male, medicine.medical_specialty, Pediatrics, Population, Gene Dosage, New York, Pilot Projects, Population based, SMN1, 030105 genetics & heredity, Muscular Atrophy, Spinal, 03 medical and health sciences, 0302 clinical medicine, Neonatal Screening, medicine, Humans, education, Genetics (clinical), education.field_of_study, Newborn screening, business.industry, Infant, Newborn, Infant, Spinal muscular atrophy, Exons, medicine.disease, SMA, Survival of Motor Neuron 1 Protein, Surgery, Clinical trial, Nusinersen, Female, business, 030217 neurology & neurosurgery, Gene Deletion
Abstract

PurposeTo determine feasibility and utility of newborn screening for spinal muscular atrophy (SMA) in New York State.MethodsWe validated a multiplex TaqMan real-time quantitative polymerase chain reaction assay using dried blood spots for SMA. From January 2016 to January 2017, we offered, consented, and screened 3,826 newborns at three hospitals in New York City and tested newborns for the deletion in exon 7 of SMN1.ResultsNinety-three percent of parents opted in for SMA screening. Overall the SMA carrier frequency was 1.5%. We identified one newborn with a homozygous SMN1 deletion and two copies of SMN2, which strongly suggests the severe type 1 SMA phenotype. The infant was enrolled in the NURTURE clinical trial and was first treated with Spinraza at age 15 days. She is now age 12 months, meeting all developmental milestones, and free of any respiratory issues.ConclusionOur pilot study demonstrates the feasibility of population-based screening, the acceptance by families, and the benefit of newborn screening for SMA. We suggest that SMA be considered for addition to the national recommended uniform screening panel.

Published
2017

2. Insurance coverage of medical foods for treatment of inherited metabolic disorders

Author

Jennifer N. Kraszewski, Katharine B. Harris, Jill F. Shuger, Michele A. Lloyd-Puryear, Susan A. Berry, Mary Kay Kenney, Coleen A. Boyle, Jill Levy-Fisch, Rani H. Singh, Carol L. Greene, and Cynthia A. Cameron

Subjects
Adolescent, Diet therapy, MEDLINE, inborn errors of metabolism, Article, Environmental health, neonatal screening, Humans, Medicine, Child, Genetics (clinical), Food, Formulated, business.industry, Data Collection, Infant, Newborn, Infant, insurance coverage, Infant newborn, Purchasing, Biotechnology, diet therapy, Child, Preschool, Dietary Supplements, Insurance, Health, Reimbursement, Costs and Cost Analysis, Payment sources, business, Metabolism, Inborn Errors, Insurance coverage
Abstract

Purpose Treatment of inherited metabolic disorders is accomplished by use of specialized diets employing medical foods and medically necessary supplements. Families seeking insurance coverage for these products express concern that coverage is often limited; the extent of this challenge is not well defined. Methods To learn about limitations in insurance coverage, parents of 305 children with inherited metabolic disorders completed a paper survey providing information about their use of medical foods, modified low-protein foods, prescribed dietary supplements, and medical feeding equipment and supplies for treatment of their child's disorder as well as details about payment sources for these products. Results Although nearly all children with inherited metabolic dis orders had medical coverage of some type, families paid “out of pocket” for all types of products. Uncovered spending was reported for 11% of families purchasing medical foods, 26% purchasing supplements, 33% of those needing medical feeding supplies, and 59% of families requiring modified low-protein foods. Forty-two percent of families using modified low-protein foods and 21% of families using medical foods reported additional treatment-related expenses of $100 or more per month for these products. Conclusion Costs of medical foods used to treat inherited metabolic disorders are not completely covered by insurance or other resources.

Published
2013

3. List of Contributors

Author

Russell C. Addis, Piero Anversa, Judith Arcidiacono, Anthony Atala, Joyce Axelman, Ashok Batra, Helen M. Blau, Susan Bonner-Weir, Mairi Brittan, Hal E. Broxmeyer, Mara Cananzi, Constance Cepko, Tao Cheng, Susana M. Chuva de Sousa Lopes, Gregory O. Clark, Maegen Colehour, Paolo de Coppi, Giulio Cossu, George Q. Daley, Jiyoung M. Dang, Natalie Direkze, Yuval Dor, Gregory R. Dressler, Charles N. Durfor, Ewa C.S. Ellis, Martin Evans, Donna M. Fekete, Donald Fink, Elaine Fuchs, Margaret T. Fuller, Richard L. Gardner, Zulma Gazit, Dan Gazit, John D. Gearhart, Victor M. Goldberg, Rodolfo Gonzalez, Deborah Lavoie Grayeski, Ronald M. Green, Markus Grompe, Stephen L. Hilbert, Marko E. Horb, Jerry I. Huang, Jaimie Imitola, D. Leanne Jones, Jan Kajstura, David S. Kaplan, Pritinder Kaur, Kathleen C. Kent, Candace L. Kerr, Ali Khademhosseini, Nadav Kimelman, Irina Klimanskaya, Jennifer N. Kraszewski, Mark A. LaBarge, Robert Langer, Robert Lanza, Ellen Lazarus, Jean Pyo Lee, Mark H. Lee, Annarosa Leri, Shulamit Levenberg, S. Robert Levine, John W. Littlefield, Richard McFarland, Jill McMahon, Douglas A. Melton, Mary Tyler Moore, Franz-Josef Mueller, Christine L. Mummery, Bernardo Nadal-Ginard, Hitoshi Niwa, Keisuke Okita, Jitka Ourednik, Vaclav Ourednik, Kook I. Park, Ethan S. Patterson, Gadi Pelled, Christopher S. Potten, Sean Preston, Philip R. Roelandt, Valerie D. Roobrouck, Nadia Rosenthal, Janet Rossant, Maurilio Sampaolesi, Maria Paola Santini, David T. Scadden, Holger Schlüter, Gunter Schuch, Michael J. Shamblott, Dima Sheyn, Richard L. Sidman, Evan Y. Snyder, Shay Soker, Stephen C. Strom, Lorenz Studer, M. Azim Surani, Francesco Saverio Tedesco, Yang D. Teng, David Tosh, Alan Trounson, Tudorita Tumbar, Edward Upjohn, George Varigos, Catherine M. Verfaillie, Zhan Wang, Gordon C. Weir, Kevin J. Whittlesey, J. Koudy Williams, James W. Wilson, Celia Witten, Nicholas A. Wright, Shinya Yamanaka, and Jung U. Yoo

Published
2014

4. Retroviral Marking of Canine Bone Marrow: Long-Term, High-Level Expression of Human Interleukin-2 Receptor Common Gamma Chain in Canine Lymphocytes

Author

Todd Whitwam, Mark E. Haskins, Paula S. Henthorn, Jennifer N. Kraszewski, Sandra E. Kleiman, Nancy E. Seidel, David M. Bodine, and Jennifer M. Puck

Subjects
Immunology, Cell Biology, Hematology, Biochemistry
Abstract

Optimization of retroviral gene transfer into hematopoietic cells of the dog will facilitate gene therapy of canine X-linked severe combined immunodeficiency (XSCID) and in turn advance similar efforts to treat human XSCID. Both canine and human XSCID are caused by defects in the common γ chain, γc, of receptors for interleukin-2 and other cytokines. In this study, normal dogs were given retrovirally transduced bone marrow cells with and without preharvest mobilization by the canine growth factors granulocyte colony-stimulating factor (G-CSF) and stem cell factor (SCF). Harvey sarcoma virus and Moloney murine leukemia virus constructs were used, both containing cDNA encoding human γc. The Harvey-based vector transduced into cytokine-primed marrow yielded persistent detectable provirus in bone marrow and blood and expression of human γc on peripheral lymphocytes. In three dogs, human γc expression disappeared after 19 to 34 weeks but reappeared and was sustained, in one dog beyond 16 months posttransplantation, upon immunosuppression with cyclosporin A and prednisone, with up to 25% of lymphocytes expressing human γc. The long-term expression of human γc in a high proportion of normal canine lymphocytes predicts that retrovirus-mediated gene correction of hematopoietic cells may prove to be of clinical benefit in humans affected with this XSCID.This is a US government work. There are no restrictions on its use.

Published
1998

5. Retroviral Marking of Canine Bone Marrow: Long-Term, High-Level Expression of Human Interleukin-2 Receptor Common Gamma Chain in Canine Lymphocytes

Author

Paula S. Henthorn, David M. Bodine, Jennifer M. Puck, Sandra E. Kleiman, Jennifer N. Kraszewski, Todd Whitwam, Nancy E. Seidel, and Mark E. Haskins

Subjects
Severe combined immunodeficiency, Genetic enhancement, Immunology, Genetic transfer, Stem cell factor, Cell Biology, Hematology, Biology, medicine.disease, Biochemistry, Haematopoiesis, medicine.anatomical_structure, Cyclosporin a, medicine, Bone marrow, Common gamma chain
Abstract

Optimization of retroviral gene transfer into hematopoietic cells of the dog will facilitate gene therapy of canine X-linked severe combined immunodeficiency (XSCID) and in turn advance similar efforts to treat human XSCID. Both canine and human XSCID are caused by defects in the common γ chain, γc, of receptors for interleukin-2 and other cytokines. In this study, normal dogs were given retrovirally transduced bone marrow cells with and without preharvest mobilization by the canine growth factors granulocyte colony-stimulating factor (G-CSF) and stem cell factor (SCF). Harvey sarcoma virus and Moloney murine leukemia virus constructs were used, both containing cDNA encoding human γc. The Harvey-based vector transduced into cytokine-primed marrow yielded persistent detectable provirus in bone marrow and blood and expression of human γc on peripheral lymphocytes. In three dogs, human γc expression disappeared after 19 to 34 weeks but reappeared and was sustained, in one dog beyond 16 months posttransplantation, upon immunosuppression with cyclosporin A and prednisone, with up to 25% of lymphocytes expressing human γc. The long-term expression of human γc in a high proportion of normal canine lymphocytes predicts that retrovirus-mediated gene correction of hematopoietic cells may prove to be of clinical benefit in humans affected with this XSCID. This is a US government work. There are no restrictions on its use.

Published
1998

6. Derivation and Differentiation of Human Embryonic Germ Cells

Author

Russell C. Addis, John D. Gearhart, Candace L. Kerr, John W. Littlefield, Kathleen C. Kent, Michael J. Shamblott, Joyce Axelman, Ethan S. Patterson, Gregory O. Clark, and Jennifer N. Kraszewski

Subjects
education.field_of_study, Embryonic Germ Cells, Cell growth, Cellular differentiation, Population, Embryoid body, Biology, Embryonic stem cell, In vitro, Cell biology, Immunology, Inner cell mass, Progenitor cell, Stem cell, education, Induced pluripotent stem cell, Leukemia inhibitory factor, Progenitor
Abstract

Publisher Summary Embryonic germ (EG) cells are pluripotent stem cells derived from primordial germ cells (PGCs) that arise in the late embryonic and early fetal period of development. Embryonic stem (ES) cells were first derived from the inner cell mass of mouse pre-implantation embryos, and EG cells were initially derived from mouse PGCs. Subsequently, EG cells have been derived from chicken, pig, and human PGCs. Pig, chicken, and mouse EG cells have been demonstrated to contribute to experimentally produced chimeric animals, including germline transmission in the latter two species. Human EG cells can be derived from PGCs by using methods similar to those used to derive mouse EG cultures. Like mouse embryonic stem and EG cells, human EG cells require leukemia inhibitory factor (LIF) for proliferation as undifferentiated stem cells. Unlike mouse EG cells, however, human EG cells do not readily lose their dependence on exogenous cytokines and factors supplied by the feeder layer, and they have a higher frequency of spontaneous differentiation into embryoid bodies (EBs). Although EBs are a loss to the pluripotent stem cell population, they are a source of cells expressing markers of mature cellular phenotypes, as well as their presumed progenitors and precursors. Cells that retain a high capacity for cell proliferation and express makers of multiple lineages can be isolated from EBs, and can be used in a variety of in vitro and in vivo differentiation paradigms. The current challenges are to match individual EB-derived (EBD) cultures to desired endpoints, and to enrich or purify populations of cells within EBD cultures to more specifically address biological requirements.

Published
2013

7. Contributors

Author

Russell C. Addis, Jon D. Ahlstrom, Michal Amit, Peter W. Andrews, Joyce Axelman, M. Azim Surani, Nissim Benvenisty, Mickie Bhatia, Ali H. Brivanlou, Joseph W. Carnwath, Melissa K. Carpenter, Howard Y. Chang, Xin Chen, Tao Cheng, Susana M. Chuva de Sousa Lopes, Gregory O. Clark, Joshua D. Dowell, Jonathan S. Draper, Martin Evans, Loren J. Field, Margaret T. Fuller, Richard L. Gardner, Svetlana Gavrilov, John D. Gearhart, Charles A. Gersbach, Marko E. Horb, Joseph Itskovitz-Eldor, Junfeng Ji, Penny Johnson, D. Leanne Jones, Kathleen C. Kent, Candace L. Kerr, Ali Khademhosseini, Irina Klimanskaya, Jennifer N. Kraszewski, Wilfried A. Kues, Donald W. Landry, Robert Langer, Shulamit Levenberg, John W. Littlefield, Andrea Lucas-Hahn, Anne McLaren, Jill McMahon, M. Martins-Green, Yoav Mayshar, Douglas Melton, Christine L. Mummery, Andras Nagy, Heiner Niemann, Shin-Ichi Nishikawa, Hitoshi Niwa, Keisuke Okita, Virginia E. Papaioannou, Ethan S. Patterson, Alice Pébay, Martin F. Pera, M. Petreaca, Emily N. Price, Jane Rossant, Michael Rubart, David T. Scadden, Thomas Schulz, Michael J. Shamblott, Harvir Singh, David L. Stocum, James A. Thomson, David Tosh, Alan Trounson, Chunhui Xu, Kohei Yamamizu, Shinya Yamanaka, Jun K. Yamashita, Holly Young, Bonan Zhong, Leonard I. Zon, Thomas P. Zwaka, and Robert Zweigerdt

Published
2013

8. Contributors

Author

Russell C. Addis, Michal Amit, Peter W. Andrews, Piero Anversa, Anthony Atala, Joyce Axelman, Anne G. Bang, Yann Barrandon, Steven R. Bauer, Daniel Becker, Nissim Benvenisty, Paolo Bianco, Helen M. Blau, Susan Bonner-Weir, Mairi Brittan, Hal E. Broxmeyer, Scott Bultman, Arnold I. Caplan, Melissa K. Carpenter, Fatima Cavaleri, Connie Cepko, Howard Y. Chang, Xin Chen, Tao Cheng, Susana M. Chuva de Sousa Lopes, Gregory O. Clark, Michael F. Clarke, Giulio Cossu, Annelies Crabbe, George Q. Daley, Ayelet Dar, Brian R. Davis, Natalie C. Direkze, Yuval Dor, Jonathan S. Draper, Gregory R. Dressler, Martin Evans, Margaret A. Farley, Donna Fekete, Qiang Feng, Loren J. Field, Donald W. Fink, K. Rose Finley, Elaine Fuchs, Margaret T. Fuller, Richard L. Gardner, John D. Gearhart, Pamela Gehro. Robey, Sharon Gerecht-Nir, Penney M. Gilbert, Victor M. Goldberg, Rodolfo Gonzalez, Elizabeth Gould, Trevor A. Graham, Ronald M. Green, Markus Grompe, Dirk Hockemeyer, Marko E. Horb, Jerry I. Huang, Adam Humphries, Joseph Itskovitz-Eldor, Rudolf Jaenisch, Penny Johnson, D. Leanne Jones, Jan Kajstura, Gerard Karsenty, Pritinder Kaur, Kathleen C. Kent, Candace L. Kerr, Ali Khademhosseini, Chris Kintner, Irina Klimanskaya, Naoko Koyano-Nakagawa, Jennifer N. Kraszewski, Tilo Kunath, Robert Langer, Robert Lanza, Annarosa Leri, Shulamit Levenberg, S. Robert Levine, Olle Lindvall, John W. Littlefield, Shi-Jiang Lu, Terry Magnuson, Yoav Mayshar, John W. McDonald, Stuart A.C. McDonald, Anne McLaren, Jill McMahon, Douglas A. Melton, Christian Mirescu, Nathan Montgomery, Malcolm A.S. Moore, Mary Tyle. Moore, Christine L. Mummery, Andras Nagy, Satomi Nishikawa, Shin-Ichi Nishikawa, Hitoshi Niwa, Jennifer S. Park, Ethan S. Patterson, Alice Pébay, Martin F. Pera, Christopher S. Potten, Bhawana Poudel, Sean L. Preston, Nicole L. Prokopishyn, Emily K. Pugach, Jean Py. Lee, Ariane Rochat, Nadia Rosenthal, Janet Rossant, Michael Rothenberg, Michael Rubart, Alessandra Sacco, Maurilio Sampaolesi, Maria Paol. Santini, David T. Scadden, Hans Schöler, Tom Schulz, Michael J. Shamblott, William B. Slayton, Evan Y. Snyder, Frank Soldner, Gerald J. Spangrude, Lorenz Studer, M. Azim Surani, James A. Thomson, David Tosh, Tudorita Tumbar, Edward Upjohn, George Varigos, Catherine M. Verfaillie, Gordon C. Weir, J.W. Wilson, Nicholas A. Wright, Jun K. Yamashita, Holly Young, Junying Yu, Leonard I. Zon, and Thomas P. Zwaka

Published
2009

9. Contributors

Author

Russell C. Addis, Bruce Alberts, Michal Amit, Peter W. Andrews, Hitomi Aoki, Makoto Asashima, Joyce Axelman, Daniel Becker, Nissim Benvenisty, Mickie Bhatia, C. Clare Blackburn, Michele Boiani, Susan Bonner-Weir, Josephine Bowles, Richard L. Boyd, Marianne Bronner-Fraser, Eric W. Brunskill, Scott Bultman, Frederick Charles Campbell, Anne Camus, Melissa K. Carpenter, Fatima Cavaleri, Constance Cepko, Yijing Chen, Susana M. Chuva de Sousa Lopes, Gregory O. Clark, Jérôme Collignon, Paul Collodi, Chad Cowan, George Q. Daley, Christian Dani, Joshua D. Dowell, Jonathan S. Draper, Gregory R. Dressler, Micha Drukker, Gabriela Durcova-Hills, Robert G. Edwards, Rebecca S. Eisenberg, Ravindhra Elluru, Sir Martin Evans, Lianchun Fan, Margaret A. Farley, Donna M. Fekete, Loren J. Field, Donald W. Fink, Lesley M. Forrester, Margaret T. Fuller, Miho Furue, David L. Garbers, Richard L. Gardner, John D. Gearhart, Sharon Gerecht-Nir, Jason W. Gill, Rodolfo Gonzalez, Daniel H.D. Gray, Ronald M. Green, Michal Gropp, Alexandra Haagensen, F. Kent Hamra, Richard P. Harvey, Susan M. Hawes, Shin-Ichi Hayashi, Anne L. Hazlehurst, Hiroaki Hemmi, Hiroshi Hisatsune, James Huettner, Bradley Huntsman, Catherine Iéhlé, Jamie Imitola, Joseph Itskovitz-Eldor, Rudolf Jaenisch, Penny A. Johnson, D. Leanne Jones, Elizabeth A. Jones, Gerard Karsenty, Gil Katz, Pritinder Kaur, Robert G. Kelly, Kathleen C. Kent, Candace L. Kerr, Ali Khademhosseini, Hanita Khaner, Chris Kintner, Irina Klimanskaya, Nobuyuki Kondoh, Peter Koopman, Naoko Koyano-Nakagawa, Jennifer N. Kraszewski, Robb Krumlauf, Tilo Kunath, Takahiro Kunisada, Robert Langer, Robert Lanza, Jean Pyo Lee, Shulamit Levenberg, S. Robert Levine, Haifan Lin, John W. Littlefield, Michael J. Lysaght, Fiona A. Mack, Terry Magnuson, Anna Malashicheva, Ofer Mandelboim, Nancy R. Manley, Klaus I. Matthaei, Yoav Mayshar, John W. McDonald, Dame Anne McLaren, Jill McMahon, Alexander Meissner, Harald von Melchner, Douglas A. Melton, Nathan Montgomery, Mary Tyler Moore, Tsutomu Motohashi, Franz-Josef Mueller, Christine Mummery, Satomi Nishikawa, Shin-Ichi Nishikawa, Andras Nagy, Hitoshi Niwa, Hiromi Okuyama, Jitka Ourednik, Vaclav Ourednik, Masahito Oyamada, Yumiko Oyamada, Virginia E. Papaioannou, Kook I. Park, Ethan S. Patterson, Larry T. Patterson, Alice Pébay, Martin F. Pera, Aitana Perea-Gomez, Anthony C.F. Perry, James N. Petitte, Blaine W. Phillips, S. Steven Potter, Arti K. Rai, Christopher Reeve, Benjamin Reubinoff, Janet Rossant, Michael Rubart, Pierre Savatier, Hans Schöler, Cordula Schulz, Nikolaus Schultz, Michael J. Shamblott, Richard L. Sidman, M. Celeste Simon, Evan Y. Snyder, A. Francis Stewart, Lorenz Studer, Azim Surani, Tetsuro Takamatsu, Yang D. Teng, Irma Thesleff, James A. Thomson, David Tosh, Paul Trainor, Alan O. Trounson, Motokazu Tsuneto, Mark Tummers, Edward Upjohn, George Varigos, Cécile Vernochet, Jay L. Vivian, Zhongde Wang, Gordon C. Weir, Susan E. Wert, Jeffrey A. Whitsett, J. David Wininger, Zhuoru Wu, Chunhui Xu, Toshiyuki Yamane, Jun Yamashita, Yukiko M. Yamashita, Hidetoshi Yamazaki, Laurie Zoloth, Thomas P. Zwaka, and Robert Zweigerdt

Published
2004

Catalog

Books, media, physical & digital resources
See catalog results