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