School of Medicine
Showing 41-60 of 76 Results
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Neville H. Golden M.D.
Marron and Mary Elizabeth Kendrick Professor of Pediatrics, Emeritus
Current Research and Scholarly InterestsMy research has focused on the medical complications of adolescents with eating disorders. My specific area of study has been the etiology and implications of amenorrhea in adolescents with eating disorders, in particular the management of reduced bone mass and osteoporosis in anorexia nervosa.
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Natalia Gomez-Ospina
Assistant Professor of Pediatrics (Genetics) and of Pediatrics (Stem Cell Transplantation)
Current Research and Scholarly InterestsDr. 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.
For more information go to our website:
https://www.gomezospina.com/ -
Aranyak Goswami
Postdoctoral Scholar, Human Gene Therapy
BioAranyak earned his Master’s in the field of Human Genetics from the University of Calcutta, India. As a part of his master's thesis at the Indian Institute of Chemical Biology, he conducted studies on the elucidation of the diversified genetic effects of the TLR-9 gene in Indian population subgroups. He continued his association with the Indian Institute of Chemical Biology and completed his Ph.D. in the field of Bioinformatics and microbial genomics under Dr. Chitra Dutta, one of the pioneers of Bioinformatics in India.
As part of his Ph.D. studies, he elucidated evolutionary adaptive strategies used by Bacillus who have adapted to a wide variety of ecological habitats, and the crucial role its members play as part of the human microbiome. He joined the Kay Lab in April 2022 after postdoctoral work at Bose Institute in India and Yale University School of Medicine in the field of computational genomics and bioinformatics on a diverse set of topics from computational human genetics to bulk and single-cell RNA sequencing. In the Kay Lab, his focus is to conduct bioinformatics and genomics analysis in the areas of gene therapy and RNA-mediated gene regulation for disease treatment. In his spare time, he enjoys creative writing, reading, and watching movies with his wife. -
Jeffrey Gould
Robert L. Hess Endowed Professor of Pediatrics
Current Research and Scholarly InterestsPopulation-based studies related to neonatal and perinatal diseases.
