Maurice Jeremiah Mahoney MD, JD

Professor of Genetics, of Obstetrics, Gynecology, and Reproductive Sciences and of Pediatrics; Co-Chair, Embryonic Stem Cell Research Oversight Committee; Executive Director, Human Investigation Committee

Research Interests

Clinical Genetics; Diagnosis and Therapy of Human Fetal Disease; Research Ethics as Applied to Human Subjects


Research Summary

    Our major interest is the diagnosis of human disease during fetal life. Using samples provided by a large fetal diagnosis service we are examining new technologies to improve the appraisal of fetal health by analysis of maternal serum, amniotic fluid, and placental and fetal tissue.

    Extensive Research Description

    Collaborative studies with members of the Department of Obstetrics & Gynecology at Yale and other medical centers are addressing the biology of the human conceptus, embryo, and fetus and methods of prenatal diagnosis and possible fetal therapies in human pregnancies.

    We are pursuing the evaluation of innovative fetal therapies. Several effective therapeutic approaches have been developed in recent years which include surgical intervention and the medical introduction of trace nutrients. Finally, methods are being developed to study the human pre-embryo prior to implantation as a forerunner of diagnostic procedures applied at that stage.


    Selected Publications

    • Fattal-Valevski A, DiMaio MS, Hisama FM, Hobson GM, Davis-Williams A, Garbern JY, Mahoney MJ, Kolodny EM, Pastores GM. Variable expression of a novel PLP1 mutation in members of a family with Pelizaeus-Merzbacher disease. J Child Neurol 24: 618-24, 2009.
    • Klein RD, Mahoney MJ. LabCorp v. Metabolite Laboratories, the Supreme Court listens, but declines to speak. J Law Med Ethics 36: 141-9, 2008.
    • Lehmann K, Seemann P, Silan F, Goecke TO, Irgang S, Kjaer KW, Kjaergaard S, Mahoney MJ, Morlot S, Reissner C, Kerr B, Wilkie AOM, Mundlos S. A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. Am J Hum Genet 81: 388-96, 2007
    • Klein RD, Mahoney MJ. Medical-legal issues in prenatal diagnosis. Clin Perinatol 34:287-97, 2007
    • Bahado-Singh R, Shahabi S, Karaca M, Mahoney MJ, Cole L, Oz UA. The comprehensive midtrimester test: high-sensitivity Down syndrome test. Am J Obstet Gynecol 186:803-8, 2002.

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