From Wikipedia, the free encyclopedia
Colombian physician-scientist
Natalia Gomez-Ospina is a Colombian
physician-scientist who studies
genetic disorders and
lysosomal storage disorders .
[1] She was born in
Medellín ,
Colombia .
[2] She is an Assistant Professor of Pediatrics (Genetics) and of Pediatrics (Stem Cell Transplantation) at Stanford University and works at
Lucile Packard Children's Hospital .
[1]
[2] She is a member of
Stanford Bio-X .
[3]
Gomez-Ospina studied
petroleum engineering at the
National University of Colombia
[4] before transferring to the
University of Colorado Boulder , where she
double-majored in
Molecular ,
Cellular , and
Developmental Biology and
Biochemistry .
[1]
[2]
[5]
[6] She graduated
summa cum laude .
[5]
She joined the
Medical Scientist Training Program at the
Stanford University School of Medicine and earned her
MD/PhD in 2011.
[7] Her
doctoral thesis was entitled, "The calcium channel CACNA1C gene: multiple proteins, diverse functions."
She spent a year in
internal medicine at
Santa Barbara Cottage hospital before pursuing a
Dermatology
residency at
Johns Hopkins Hospital .
[8] She completed her residency in Medical Genetics at
Stanford Hospital .
[9] Her post-doctoral work focused on
hematopoietic stem cell transplantation in pediatrics.
[3]
Gomez-Ospina has published research in several
academic journals , including
The New England Journal of Medicine ,
[10] Cell ,
[11]
Nature Communications ,
[12]
Nature Medicine ,
[13]
[14] and the
American Journal of Medical Genetics .
[2]
[15]
Her professional work includes
point-of-care testing for children with disorders in their ability to regulate
ammonia levels. With her colleagues, Gomez-Ospina has developed a handheld device to measure levels of ammonia in
serum .
[16]
[17]
[18]
[19]
^
a
b
c
"Natalia Gomez-Ospina | Stanford Medicine Profiles" . med.stanford.edu . Retrieved 2021-01-23 .
^
a
b
c
d
"Natalia Gomez-Ospina's Profile | Stanford Profiles" . profiles.stanford.edu . Retrieved 2021-01-23 .
^
a
b University, © Stanford; Stanford; California 94305 (2018-11-02).
"Natalia Gomez-Ospina - Assistant Professor of Pediatrics (Genetics and Stem Cell Transplantation)" . Welcome to Bio-X . Retrieved 2021-01-23 . {{
cite web }}
: CS1 maint: numeric names: authors list (
link )
^
"Browsing by Author "Ospina Gómez, Natalia Andrea" " . repositorio.unal.edu.co . Retrieved 2021-01-23 .
^
a
b
"People" . Gomez-Ospina Lab . Retrieved 2021-01-23 .
^ Fromherz, S. (2004-01-15).
"Mutations in -tubulin promote basal body maturation and flagellar assembly in the absence of -tubulin" . Journal of Cell Science . 117 (2): 303–314.
doi :
10.1242/jcs.00859 .
ISSN
0021-9533 .
PMID
14676280 .
^
"MSTP Alumni (before 2015)" . MSTP MD-PhD Program . Retrieved 2021-01-23 .
^
"Dr. Natalia Gomez-Ospina, MD – Palo Alto, CA | Medical Genetics on Doximity" . Doximity . Retrieved 2021-01-23 .
^ University, © Stanford; Stanford; California 94305 (2020-01-31).
"Natalia Gomez-Ospina" . Wu Tsai Neurosciences Institute . Retrieved 2021-01-23 . {{
cite web }}
: CS1 maint: numeric names: authors list (
link )
^ Gomez-Ospina, Natalia; Chang, Anne Lynn S.; Qu, Kun; Oro, Anthony E. (2012-06-07).
"Translocation Affecting Sonic Hedgehog Genes in Basal-Cell Carcinoma" . New England Journal of Medicine . 366 (23): 2233–2234.
doi :
10.1056/nejmc1115123 .
ISSN
0028-4793 .
PMC
3839666 .
PMID
22670922 .
^ Gomez-Ospina, Natalia; Tsuruta, Fuminori; Barreto-Chang, Odmara; Hu, Linda; Dolmetsch, Ricardo (Nov 2006).
"The C Terminus of the L-Type Voltage-Gated Calcium Channel CaV1.2 Encodes a Transcription Factor" . Cell . 127 (3): 591–606.
doi :
10.1016/j.cell.2006.10.017 .
PMC
1750862 .
PMID
17081980 .
^ Gomez-Ospina, Natalia; Potter, Carol J.; Xiao, Rui; Manickam, Kandamurugu; Kim, Mi-Sun; Kim, Kang Ho; Shneider, Benjamin L.; Picarsic, Jennifer L.; Jacobson, Theodora A.; Zhang, Jing; He, Weimin (Apr 2014).
"Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis" . Nature Communications . 7 (1): 10713.
doi :
10.1038/ncomms10713 .
ISSN
2041-1723 .
PMC
4759630 .
PMID
26888176 .
^ Vakulskas, Christopher A.; Dever, Daniel P.; Rettig, Garrett R.; Turk, Rolf; Jacobi, Ashley M.; Collingwood, Michael A.; Bode, Nicole M.; McNeill, Matthew S.; Yan, Shuqi; Camarena, Joab; Lee, Ciaran M. (Aug 2018).
"A high-fidelity Cas9 mutant delivered as a ribonucleoprotein complex enables efficient gene editing in human hematopoietic stem and progenitor cells" . Nature Medicine . 24 (8): 1216–1224.
doi :
10.1038/s41591-018-0137-0 .
ISSN
1078-8956 .
PMC
6107069 .
PMID
30082871 .
^ Charlesworth, Carsten T.; Deshpande, Priyanka S.; Dever, Daniel P.; Camarena, Joab; Lemgart, Viktor T.; Cromer, M. Kyle; Vakulskas, Christopher A.; Collingwood, Michael A.; Zhang, Liyang; Bode, Nicole M.; Behlke, Mark A. (Feb 2019).
"Identification of preexisting adaptive immunity to Cas9 proteins in humans" . Nature Medicine . 25 (2): 249–254.
doi :
10.1038/s41591-018-0326-x .
ISSN
1078-8956 .
PMC
7199589 .
PMID
30692695 .
^ Weiss, Karin; Terhal, Paulien A.; Cohen, Lior; Bruccoleri, Michael; Irving, Melita; Martinez, Ariel F.; Rosenfeld, Jill A.; Machol, Keren; Yang, Yaping; Liu, Pengfei; Walkiewicz, Magdalena (Oct 2016).
"De Novo Mutations in CHD4 , an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms" . The American Journal of Human Genetics . 99 (4): 934–941.
doi :
10.1016/j.ajhg.2016.08.001 .
PMC
5065651 .
PMID
27616479 .
^
"Researchers develop a portable blood ammonia detector" . EurekAlert! . Retrieved 2021-01-23 .
^
"Portable blood ammonia detector could be "life-changing" " . New Atlas . 2020-07-22. Retrieved 2021-01-23 .
^
"Portable blood ammonia detector" . ScienceDaily . Retrieved 2021-01-23 .
^ Kubota, Author Taylor (2020-07-24).
"Device could help patients test blood ammonia levels at home" . Scope . Retrieved 2021-01-23 .