Duke University

Other

Johns Hopkins University

Kennedy Krieger Institute, Inc.

Douglas A Marchuk

Kimberly McAllister

Jonathan Pevsner

Michelle Letarte

Anne Comi

Michelle V Letarte

Matthew Shirley

The present invention relates to the fields of neurological and skin disorders. More specifically, the present invention provides methods and compositions for diagnosing and prognosing Sturge-Weber Syndrome (SWS), Klippel-Trenaunay-Weber Syndrome (KTWS), and Port Wine Stains (PWS). In one embodiment, a method for prognosing or monitoring treatment of a patient with SWS, KTWS and/or PWS comprises the steps of (a) providing a sample from the patient undergoing treatment; (b) determining the number of alleles in the sample comprising at least one activating somatic mutation in the guanine nucleotide-binding protein G subunit alpha (GNAQ) gene or protein; (c) comparing the number of alleles comprising the at least one somatic mutation to the number of alleles comprising the somatic mutation from a patient sample provided prior to undergoing treatment; and (d) determining that the patient is improving if there is a decrease in the number of alleles comprising the at least one somatic mutation from the sample of step (a).

Diagnostic and prognostic test for sturge-weber syndrome, klippel-trenaunay-weber syndrome, and port-wine stains (PWSS)

Genomic sequence encoding endoglin and fragments thereof

A method of diagnosing hereditary haemorrhagic telangiectasia (HHT) which includes the steps of:

Diagnosis of and therapy for hereditary haemorrhagic telangiectasia

Growing community of inventors

Chapel Hill, NC, United States of America

Douglas A Marchuk