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Joseph A. Majzoub, M.D.

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Mentoring
Available: 03/07/25, Expires: 03/07/28

Ketotic hypoglycemia (KH) is a common disorder of young children that usually resolves by 5 years of age without further sequelae. Hypoglycemia in KH can have serious consequences including cognitive dysfunction and seizures. Metabolic evaluation during KH is invariably normal, and the cause remains unknown. With Dr. Majzoub and another faculty member in the Boston Children's Hospital (BCH) Division of Endocrinology, the student will perform a retrospective, IRB-approved chart review and data analysis of the several hundred patients with the diagnosis of KH identified at BCH during the past 10 years to test a novel hypothesis regarding the cause of this disease. The project should satisfy the HMS requirement for a Scholarly Project, and the student will be a co-author on the resulting manuscript if they devote sufficient effort to the project. Dr. Majzoub is Professor of Pediatrics and Medicine at HMS, and a Research Fellow in the HMS Academic Societies.

Available: 03/13/25, Expires: 03/31/27

AVP resistance (AVPR)/nephrogenic diabetes insipidus (NDI) is caused by either mutations in the AVP receptor type 2 (AVPR2), in the aquaporin 2 water channel (AQP2), or drugs such as lithium. The disease prevents the kidney from appropriately concentrating the urine, resulting in polyuria and polydipsia that can lead to severe dehydration. There is a major unmet need for an effective treatment of AVPD/NDI. We have an hypothesis that a currently FDA-approved drug may be an effective treatment. As a first step, we will perform a retrospective EHR chart review on patients cared for at Boston Children's Hospital with the diagnosis of AVPR/NDI who have been given this medication for other reasons to determine if AVPR/NDI showed biochemical improvement while taking this medication. We have an IRB protocol approved for this chart review, and await a medical student interested in working with Dr. Majzoub to perform the review. If this analysis shows improvement in the clinical laboratory tests affected in AVPR/NDI while patients took this medication, the next step will be a prospective, open-label interventional trial in which patients with AVPR/NDI are given the medication to determine whether symptoms and laboratory tests improve during treatment.

Characterization of Oncomodulin and Its Receptor
Summer, 05/23/10 - 08/27/10
Correlations of Polymorphisms in the Glucose-6-Phosphatase Gene PASTEUR
Summer, 06/26/00 - 08/18/00

Research
The research activities and funding listed below are automatically derived from NIH ExPORTER and other sources, which might result in incorrect or missing items. Faculty can login to make corrections and additions.
  1. K12DK063696 (LAFFEL, LORI M) Sep 30, 2002 - Jun 30, 2010
    NIH
    Career Development in Diabetes for Pediatric Endocrinolo
    Role: Co-Principal Investigator
  2. T32DK063702 (LAFFEL, LORI M) Sep 30, 2002 - Jun 30, 2008
    NIH
    Training Grant in Diabetes for Pediatric Endocrinologis*
    Role: Co-Principal Investigator
  3. P50HL067669 (KOUREMBANAS, STELLA) Sep 30, 2001 - Jul 31, 2007
    NIH
    Injury, inflammation &repair: effect on developing lung
    Role: Co-Principal Investigator
  4. P01HL067669 (KOUREMBANAS, STELLA) Sep 30, 2001 - Jul 31, 2006
    NIH
    Injury, inflammation &repair: effect on developing lung
    Role: Co-Principal Investigator
  5. P50HL056398 (BERNFIELD, MERTON R) Dec 1, 1996 - Nov 30, 2001
    NIH
    SCOR IN PATHOBIOLOGY OF LUNG DEVELOPMENT
    Role: Co-Principal Investigator

Bibliographic
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.