School of Medicine
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M Carolina Gallego Iradi
Thymus Research Assistant, Pediatrics - Ped Stem Cell Transplantation
Bio ? In October 2017 my previous research related to Alzheimer's signs in dolphins got worldwide recognition appearing in tv and newspapers from all around the world such Newsweek, The Times, CBS, Discover, The Chicago Post, Los Angeles Times, Nature, National Geographic Italy (2018) and more. I recently joined to Stanford University (Stem Cell Transplantation and Regenerative Medicine).
? My initial training focused on marine biology, with special emphasis on trace metal pollution. This work, which involved collaborations with different governmental, private (as Venezuelan Oil Company) and University entities (national and international), was well recognized in Venezuela where I received a merit award by the Town Hall of Porlamar (Margarita Island).
? After graduation, I obtained a fellowship to enroll in a Master Degree program in Waste Management at the Universidad Internacional de Andalucia (Spain). My performance in this program allowed me to obtain a very prestigious Biomedicine fellowship (one awarded in all of Latin America) from the Santander-Central-Hispano Bank to begin a PhD in Genetics and Development related to Neuroscience at Universidad de Zaragoza (Spain).
? My PhD studies focused on comparative pathology, demonstrating pathology similar to Alzheimer's Disease in dogs and cetaceans. After a few years of work in academia in Venezuela, I obtained an opportunity to become a post-doctoral fellow at the University of Florida (USA).
? In 2014, I transferred to the Department of Neuroscience to work with Drs. David Borchelt. Since this time, my work has focused on understanding how mutations in Matrin 3 cause ALS and myopathy. In 2016, I was promoted to an entry level faculty position (Assistant Scientist) in the Department of Neuroscience and my goal includeded the use of techniques in genetics,, cellular biology and chemistry to develop a research program that spans basic science to pharmacological application in neuromuscular disorders.
Assistant Professor of Pediatrics (Genetics) and of Pediatrics (Stem Cell Transplantation)
Current Research and Scholarly Interests Dr. Gomez-Ospina is a physician scientist and medical geneticist with a strong interest in the diagnosis and management of genetic diseases.
1) Lysosomal storage diseases:
Her research program is on developing better therapies for a large class of neurodegenerative diseases in children known as lysosomal storage disorders. Her current focus is on developing genome editing of hematopoietic stem cells as a therapeutic approach for these diseases beginning with Mucopolysaccharidosis type 1 and Gaucher disease. She established a genetic approach where therapeutic proteins can be targeted to a single well-characterized place in the genome known as a safe harbor. This approach constitutes a flexible, ?one size fits all? approach that is independent of specific genes and mutations. This strategy, in which the hematopoietic system is commandeered to express and deliver therapeutic proteins to the brain can potentially change the current approaches to treating childhood neurodegenerative diseases and pave the way for alternative therapies for adult neurodegenerative disorders such as Alzheimer?s and Parkinson?s disease
2) Point of care ammonia testing
She also works in collaboration with other researchers at Stanford to develop point-of-care testing for serum ammonia levels. Such device will greatly improve the quality of life of children and families with metabolic disorders with hyperammonemia.
3) Gene discovery
Dr Gomez-Ospina lead a multi-institutional collaboration resulting in the discovery of a novel genetic cause of neonatal and infantile cholestatic liver disease. She collaborated in the description of two novel neurologic syndromes caused by mutations in DYRK1 and CHD4.