Diana W. Bianchi
Diana W. Bianchi | |
---|---|
Nationality | American |
Fields | Medical Genetics, Neonatology |
Institutions | Tufts University School of Medicine, Tufts Medical Center, Floating Hospital for Children |
Alma mater | University of Pennsylvania, Stanford University School of Medicine |
Doctoral advisor | Leonard Herzenberg |
Known for |
Fetal cell microchimerism Non-invasive prenatal testing (NIPT) |
Diana W. Bianchi is an American medical geneticist and neonatologist noted for her research on fetal cell microchimerism and prenatal testing. Bianchi is currently the Natalie V. Zucker Professor of Pediatrics, Obstetrics, and Gynecology at Tufts University School of Medicine and Executive Director of the Mother Infant Research Institute at Tufts Medical Center. She is also Vice Chair for Research in the Department of Pediatrics at the Floating Hospital for Children at Tufts Medical Center.
Early life and education
Bianchi grew up in New York City.
She earned a B.A. from University of Pennsylvania and an M.D. from Stanford University School of Medicine. While at Stanford she performed her doctoral research with Leonard Herzenberg, Ph.D., studying the use of flow cytometry to develop a noninvasive cytogenetic prenatal diagnostic test for Down syndrome. One of Herzenberg’s children had Down syndrome, so the project had both scientific and personal significance for her mentor.[1] She completed her postdoctoral work at Boston Children’s Hospital and Harvard Medical School.
Career
She is a member of the Clinical Advisory Board of Verinata Health, an Illumina company.[2] Bianchi is one of four authors of the book Fetology: Diagnosis and Management of the Fetal Patient.[3] This book won the Association of American Publishers award for the best textbook in clinical medicine in 2000. Bianchi joined the faculty at Harvard University in 1986, concurrently assuming a position as an attending neonatologist and geneticist at Boston Children’s Hospital. In 1993, Bianchi left to take a position at Tufts University School of Medicine, receiving an endowed chair in 2002.
In 2007, Bianchi became Editor-in-Chief of Prenatal Diagnosis, the official journal of the International Society for Prenatal Diagnosis.[4] In 2010, she founded the Mother Infant Research Institute (MIRI) at Tufts Medical Center, assuming the position of Executive Director.[5]
Bianchi worked for many years on developing methods to isolate intact fetal cells from maternal blood as a noninvasive way to obtain fetal material for genetic diagnosis. While the work proved challenging due to the relative rarity of the fetal cells in the mother’s blood, the research led to an unexpected finding. Bianchi discovered that intact fetal cells remain in the mother's blood and organs for decades following pregnancy, with the possibility of migrating to the site of an injury in the mother, dividing and changing into the cells needed to fix the problem.[6][7][8] This has led to a field of study known as fetal cell microchimerism.[7]
Bianchi has also worked extensively on noninvasive prenatal testing (NIPT) using DNA sequencing of fetal and placental DNA fragments in the blood of pregnant women. As of 2011, this technology has translated to clinical prenatal care.[9] In addition, Bianchi has pioneered the study of the amniotic fluid fetal transcriptome to develop new approaches to prenatal treatment of genetic conditions.[10] In 2014, Bianchi was the lead author on a study published in the New England Journal of Medicine that examined cell free fetal DNA test performance in a general obstetrical population. This study showed that cell free DNA testing had lower false positive rates and higher positive predictive values than maternal serum biochemistry analyses with or without ultrasound measurements of the back of the fetal neck.[11][12] Currently, Bianchi is working with a mouse model to develop a prenatal treatment that could be given to a pregnant woman carrying a fetus with Down syndrome. The goal of the work is to improve brain development in the womb and neurocognition after birth.[13]
Significant papers
- Bianchi, DW; Flint AF; Pizzimenti MF; Knoll JH; Latt SA (1990). "Isolation of fetal DNA from nucleated erythrocytes in maternal blood" (PDF). Proc Natl Acad Sci USA 87 (9): 3279–3283. doi:10.1073/pnas.87.9.3279. PMC 53883. PMID 2333281. Retrieved 12 February 2014.
- Bianchi, DW; Zickwolf GK; Weil GJ; Sylvester S; DeMaria MA (1996). "Male fetal progenitor cells persist in maternal blood for as long as 27 years post-partum." (PDF). Proc Natl Acad Sci USA 93: 705–708. doi:10.1073/pnas.93.2.705. PMC 40117. PMID 8570620. Retrieved 12 February 2014.
- Srivatsa, B; Srivatsa S; Samura O; Johnson KL; Lee SL; Bianchi DW (2001). "Microchimerism of presumed fetal origin in thyroid specimens from women: a case-control study". Lancet 358: 2034–2038. doi:10.1016/S0140-6736(01)07099-4. PMID 11755610. Retrieved 12 February 2014.
- Bianchi, DW; Simpson, JL; Jackson, LG; et al. (2002). "Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data". Prenatal Diagnosis 22: 609–615. doi:10.1002/pd.347. PMID 12124698. Retrieved 12 February 2014.
- Khosrotehrani, K; Johnson KL; Cha DH; Salomon R; Bianchi DW (2004). "Transfer of fetal cells with multi-lineage potential to maternal tissue". JAMA 292: 75–80. doi:10.1001/jama.292.1.75. PMID 15238593. Retrieved 12 February 2014.
- Larrabee, PB; Johnson KL; Lai C; Ordovas J; Cowan JM; Tantravahi U; Bianchi DW (2005). "Global gene expression analysis of the living human fetus using cell-free messenger RNA in amniotic fluid". JAMA 293: 836–842. doi:10.1001/jama.293.7.836. PMID 15713773.
- Slonim, DK; Koide K; Johnson KL; Tantravahi U; Cowan JM; Jarrah Z; Bianchi, DW (2009). "Functional genomic analysis of amniotic fluid cell-free mRNA suggests that oxidative stress is significant in Down syndrome fetuses". Proc Natl Acad Sci USA 106: 9425–9429. doi:10.1073/pnas.0903909106. PMC 2687148. PMID 19474297. Retrieved 12 February 2014.
- Bianchi, DW; Platt LD; Goldberg JD; Abuhamad AZ; Sehnert AJ; Rava RP (2012). "Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing". Obstetrics and Gynecology 119: 890–901. doi:10.1097/AOG.0b013e31824fb482. PMID 22362253. Retrieved 12 February 2014.
- Bianchi, DW (2012). "From prenatal genomic diagnosis to fetal personalized medicine: progress and challenges". Nature Medicine 18 (7): 1041–1051. doi:10.1038/nm.2829. PMID 22772565. Retrieved 12 February 2014.
- Guedj, F; Bianchi, DW (2013). "Noninvasive prenatal testing creates an opportunity for antenatal treatment of Down syndrome". Prenatal Diagnosis 33: 614–618. doi:10.1002/pd.4134. PMID 23595836. Retrieved 12 February 2014.
- Bianchi, DW; Parker, RL; Wentworth, J; et al. (February 27, 2014). "DNA sequencing versus standard prenatal aneuploidy screening". New England Journal of Medicine 370 (9): 799–808. doi:10.1056/nejmoa1311037. PMID 24571752.
Awards
- 1997 - Milton O. and Natalie V. Zucker Prize for Outstanding Faculty Research, Tufts University School of Medicine[14]
- 2004 - Kristine Sandberg Knisely Award, University of Pennsylvania School of Medicine[15]
- 2008 - Foreign Corresponding Member, National Academy of Medicine, Argentina[16]
- 2010 - Association of American Physicians[17]
- 2012 - Duane Alexander Award from the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)[18]
- 2012 National Advisory Council, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)[19]
- 2012 Christopher Columbus Spirit of Discovery Award from Tufts University[20]
- 2013 Member, Institute of Medicine, National Academies of Science[21]
Leadership positions in professional societies
- 1999 - President, Perinatal Research Society (PRS)[22]
- 2002-2005 - Council Member (Genetics), Society for Pediatric Research (SPR)[23]
- 2002-2005 - Board of Directors, American Society of Human Genetics (ASHG)[24]
- 2007-2012 - Council Member, American Pediatric Society (APS)[25]
- 2006-2010 - President, International Society for Prenatal Diagnosis[26][27]
Patents issued
- U.S. Patent # 5, 641, 628, Non-invasive method for isolation and detection of fetal DNA, Date of application: 11/13/89, Date of patent: 6/24/97, Inventor: Diana W. Bianchi, Assignee: Children's Hospital, Boston MA
- U.S. Patent # 5, 648, 220, Methods for labeling intracytoplasmic molecules, Date of application: 2/14/95, Date of patent: 7/15/97, Inventors: Diana W. Bianchi, MaryAnn DeMaria, Assignee: New England Medical Center, Boston MA
- U.S. Patent # 5, 714, 325, Prenatal diagnosis by isolation of fetal granulocytes from maternal blood, Date of application: 9/24/93, Date of patent: 2/3/98, Inventor: Diana W. Bianchi, M.D., Assignee: New England Medical Center
- European Patent # 0500727, Non-invasive method for isolation and detection of fetal DNA, Date of application: 11/30/90, Date of patent: 1/21/98, Inventor: Diana W. Bianchi, M.D., Assignee: Children's Medical Center Corporation
- U.S. Patent # 5,830,679, Diagnostic Blood Test to identify Infants at Risk for Sepsis, Date of Patent 11/3/98, Inventors: Diana W. Bianchi, M.D., Nancy Weinschenk, M.D., Assignee: New England Medical Center
- European Patent # 99125132.3-2106, Method for Labeling Intracytoplasmic Molecules, Date of Patent 2/8/00, Inventors: Diana W. Bianchi and Mary Ann De Maria, Assignee: New England Medical Center Hospitals, Inc.
References
- ↑ "Stanford Geneticist Leonard Herzenberg dies". Palo Alto Online. 12 November 2013. Retrieved 10 February 2014.
- ↑ Clinical Advisory Board Verinata http://www.verinata.com/advisory-boards.html
- ↑ Bianchi, Diana; Crombleholme, T.; D'Alton, M.; Malone, F. (2000). Fetology: Diagnosis and Management of the Fetal Patient. New York: McGraw Hill Medical.
- ↑ "Prenatal Diagnosis". Wiley Online Library. Retrieved 4 April 2014.
- ↑ "In Conversation: Tufts Geneticist Diana Bianchi on Noninvasive Prenatal Testing". Bio-IT World. 5 November 2012. Retrieved 4 April 2014.
- ↑ Khosrotehrani, K; Johnson, KL; Cha, DH; Salomon, RN; Bianchi, DW (2004). "Transfer of fetal cells with multilineage potential to maternal tissue". JAMA 292 (1): 75–80. doi:10.1001/jama.292.1.75. PMID 15238593. Retrieved 11 February 2014.
- 1 2 Bianchi, DW; Fisk, NM (2007). "Fetomaternal cell trafficking and the stem cell debate: gender matters". JAMA 297 (13): 1489–1491. doi:10.1001/jama.297.13.1489. PMID 17405974. Retrieved 11 February 2014.
- ↑ Pritchard, S; Bianchi, DW (2012). "Fetal cell microchimerism in the maternal heart: baby gives back.". Circulation Research 110 (1): 82–93. doi:10.1161/CIRCRESAHA.111.260299. PMID 22223204.
- ↑ "In Conversation: Tufts Geneticist Diana Bianchi on Noninvasive Prenatal Testing". Bio-IT World. 5 November 2012. Retrieved 26 March 2014.
- ↑ Bianchi, DW (2012). "From prenatal genomic diagnosis to fetal personalized medicine: progress and challenges". Nature Medicine 18 (7): 1041–1051. doi:10.1038/nm.2829. PMID 22772565. Retrieved 11 February 2014.
- ↑ Belluck, Pam (26 February 2014). "Test is Improved Predictor of Fetal Disorders". The New York Times. Retrieved 26 March 2014.
- ↑ Bianchi, DW; Parker, RL; Wentworth, J; et al. (February 27, 2014). "DNA sequencing versus standard prenatal aneuploidy screening". New England Journal of Medicine 370 (9): 799–808. doi:10.1056/nejmoa1311037. PMID 24571752.
- ↑ Guedj, F; Bianchi, DW. "Noninvasive prenatal testing creates an opportunity for antenatal treatment of Down syndrome". Prenatal Diagnosis 33 (6): 614–618. doi:10.1002/pd.4134. PMID 23595836.
- ↑ List of Recipients Milton O. and Natalie V. Zucker Prize, Tufts University School of Medicine http://sackler.tufts.edu/Faculty-and-Research/Faculty-Recognition/Zucker-Research-Prizes/Milton-O-and-Natalie-V-Zucker-Prize
- ↑ Children's Hospital of Philadelphia Kristine Sandberg Knisely Lectureship http://www.chop.edu/service/neonatology/professional-resources/kristine-sandberg-knisely-lectureship.html
- ↑ Academia Nacional de Medicina Buenos Aires http://www.acamedbai.org.ar/integrantes.php#correspondientes-extranjeros
- ↑ 12.13. Members Directory, Association of American Physicians http://aap-online.org/admin/members.php?search=1
- ↑ Bio, Diana W. Bianchi, American Academy of Pediatrics http://www2.aap.org/sections/perinatal/pdf/BianchiBio.pdf
- ↑ Roster, National Advisory Council, NICHD http://www.nichd.nih.gov/about/advisory/nachhd/Pages/roster.aspx
- ↑ List of recipients, Tufts University Christopher Columbus Spirit of Discovery Award http://president.tufts.edu/christopher-columbus-celebrate-discovery-award/#
- ↑ "Institute of Medicine Elects 70 New Members, 10 Foreign Associates". 21 October 2013. Retrieved 13 February 2014.
- ↑ http://web.archive.org/web/20140325054453/http://perinatalresearchsociety.org/Council.html. Archived from the original on March 25, 2014. Retrieved February 13, 2014. Missing or empty
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(help) - ↑ Membership records at SPR. Contact APS Executive Offices: http://www.aps-spr.org
- ↑ American Society of Human Genetics Business Meeting Minutes 10/2002 http://www.ashg.org/pdf/October_2002.pdf
- ↑ Membership records at APS. Contact APS Executive Offices: http://www.aps-spr.org
- ↑ Diana Bianchi Speaker Bio, Tufts University Presidential Inauguration 2011 http://president.tufts.edu/inauguration2011/bianchi/
- ↑ International Society of Prenatal Diagnosis Directory of Officers http://www.ispdhome.org/public/about-officers.aspx