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Margretta R. Seashore |
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| Professor of Genetics and Pediatrics; Director, Genetics Clinic |
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* A.B. Swarthmore College, 1961
* M.D. Yale University, 1965
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| Research Interests: | |
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* Clinical Genetics
* Inborn errors of metabolism, diagnosis and treatment
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| The success of treatment of inborn errors of metabolism depends upon early diagnosis and effective long-term management. We are concerned with improving
the treatment of these genetic disorders. Our activities include diagnosis and screening, therapy, prenatal diagnosis and genetic counseling.
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| Current Research: | |
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Our interest is in the delineation and characterization of a number of inherited disorders of clinical importance. These include inborn errors of metabolism, single gene disorders, and certain other disorders with a genetic component.
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| With the support of the New England Regional Genetics Group we are looking at the factors which favor collaboration among metabolic specialists who care for children and adults with inherited disorders of metabolism. We are looking at collaborative treatment protocols, diagnostic strategies, and process and outcomes of newborn screening. The data implicate a false positive newborn screening test as a significant cause of anxiety in new parents, suggesting that prompt assessment and confirmatory testing are crucial in the evaluation of abnormal newborn screening results.
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| We are one 25 worldwide research sites conducting a clinical trial to study the effectiveness of a tetrahydrobiopterin, (BH4) a new investigational drug to lower the levels of phenylalanine (Phe) in the blood of persons diagnosed with phenylketonuria (PKU). We hope to learn whether or not this investigational drug will be effective to lessen some of the dietary restrictions necessary to lower the concentration of phenylalanine in the blood to acceptable treatment levels. This study is being done in the General Clinical Research Center at Yale New Haven Hospital in New Haven.
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| We are collaborators in a multi-center consortium working to develop a
clinical registry of patients with all urea cycle disorders. This effort
is part of an NIH-sponsored Rare Diseases Clinical Research Network
(RDCRN). An important aspect of this effort is a longitudinal study of
outcome in urea cycle disorders. The goal of this study is to identify
all of the patients in the North America and determine clinical
outcomes, efficacy of treatment and the importance of timing of diagnosis.
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| Representative Publications: | |
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| Waisbren SE, Albers S, Amato S, Ampola M, Brewster TG, Demmer L, Eaton RB,
Greenstein R, Korson M, Larson C, Marsden D, Msall M, Naylor EW, Pueschel S,
Seashore M, Shih VE, Levy HL.
Effect of expanded newborn screening for biochemical genetic disorders on child
outcomes and parental stress.
JAMA. 2003 Nov 19;290(19):2564-72.
PMID: 14625333 [PubMed - indexed for MEDLINE]
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| Waisbren SE, Read CY, Ampola M, Brewster TG, Demmer L, Greenstein R, Ingham
CL, Korson M, Msall M, Pueschel S, Seashore M, Shih VE, Levy HL; New England
Consortium of Metabolic Programs.
Newborn screening compared to clinical identification of biochemical genetic
disorders.
J Inherit Metab Dis. 2002 Nov;25(7):599-600.
PMID: 12638945 [PubMed - indexed for MEDLINE]
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| Seashore MR.
Tetrahydrobiopterin and dietary restriction in mild phenylketonuria.
N Engl J Med. 2002 Dec 26;347(26):2094-5. No abstract available.
PMID: 12501220 [PubMed - indexed for MEDLINE]
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Wood JC, Magera MJ, Rinaldo P, Seashore MR, Strauss AW, Friedman A.
Diagnosis of very long chain acyl-dehydrogenase deficiency from an infant's
newborn screening card.
Pediatrics. 2001 Jul;108(1):E19.
PMID: 11433098 [PubMed - indexed for MEDLINE]
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| Albers S, Waisbren SE, Ampola MG, Brewster TG, Burke LW, Demmer LA, Filiano
J, Greenstein RM, Ingham CL, Korson MS, Marsden D, Schwartz RC, Seashore MR,
Shih VE, Levy HL.
New England Consortium: a model for medical evaluation of expanded newborn
screening with tandem mass spectrometry.
J Inherit Metab Dis. 2001 Apr;24(2):303-4. No abstract available.
PMID: 11405349 [PubMed - indexed for MEDLINE]
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| Seminars in Perinatology Volume 29, Issue 3, Pages 135-188 (June 2005)
Copyright c 2005 Elsevier Inc. Genetic Problems in the Neonate
Edited by Margretta Seashore
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Margretta R. Seashore, MD, and Carl J. Seashore, MD. Newborn Screening and the Pediatric Practitioner. Volume 29, Issue 3, Pages 182-188 (June 2005)
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| Contact Information: | | |
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