Johns Hopkins University

Duke University

Kennedy Krieger Institute, Inc.

Jonathan Pevsner

Solomon H Snyder

Randall R Reed

Anne Comi

Douglas A Marchuk

Zhenhua Huang

Matthew Shirley

Doug Marchuk

In one aspect, the present invention features a method of inhibiting proliferation and/or reducing survival of a cell comprising a GNAQ polynucleotide or polypeptide having a R183Q or Q209L mutation, comprising contacting the cell with puromycin or a puromycin analog, thereby inhibiting proliferation and/or reducing survival of the cell. In another aspect, a method of treating a vascular malformation or related condition in a subject, comprising administering to the subject an effective amount of puromycin or a puromycin analog is featured. In another aspect, the present invention features a method of identifying a candidate agent that modulates a GNAQ R183Q or Q209L mutation-associated disease, comprising contacting a cell comprising a GNAQ polynucleotide or polypeptide having a R183Q or Q209L mutation with puromycin and a candidate agent and comparing viability of the contacted cell with a reference level of viability, wherein an alteration in viability indicates that the candidate agent modulates the GNAQ R183Q or Q209L mutation-associated disease.

Compositions and methods for treating vascular malformation and related conditions

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)

DNA molecules are taught which code for an odorant-binding protein which is synethesized solely in the lateral nasal gland. This protein, because of the broad range of odorants which it binds, can be used in many techniques for trapping odorants in either a liquid or solid medium. This protein bears some structural homology with other carriers of small lipophilic molecules from many other species; the carriers are known to transport specific lipophilic molecules.

Odorant-binding protein from rat

DNA molecules are taught which code for an odorant-binding protein which is synthesized solely in the lateral nasal gland. This protein, because of the broad range of odorants which it binds, can be used in many techniques for trapping odorants in either a liquid or solid medium. This protein bears some structural homology with other carriers of small lipophilic molecules from many other species; the carriers are known to transport specific lipophilic molecules.

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Baltimore, MD, United States of America

Jonathan Pevsner