Method of detection of congenital disease
OwnerJ. Jay Gargus, Mark Estacioninventors
Life of this patent
Estimating the term…
Abstract
A method for diagnosing a congenital disease by determining a cell's response to activation of a membrane receptor using a physiological indicator is provided. The method of the invention uses fetal or adult cells in a non-invasive screen for congenital disorders.
Claims32
A method of detecting a congenital disorder in a subject having an altered membrane component comprising:
- a) contacting a sample of fetal cells obtained from the subject with a substance normally able to activate the membrane component in a wild type cell;
- and
- b) detecting an intracellular second messenger response after said contacting, wherein an abnormal second messenger response is indicative of a congenital disorder in the subject.
A method of detecting a bone development disorder associated with a mutation in a fibroblast growth factor receptor in a subject having an altered membrane component comprising:
- a) contacting a sample of cells obtained from the subject with a substance normally able to activate the membrane component in a wild type cell;
- and
- b) detecting an intracellular second messenger response after said contacting, wherein an abnormal second messenger response is indicative of the bone development disorder in the subject.
A method for determining that a disorder in a subject is associated with a mutation of a fibroblast growth factor receptor (FGFR) in a cell, comprising the steps of:
- a) contacting a cell obtained from the subject with a substance that activates an FGFR in a wild type cell;
- and
- b) detecting an intracellular second messenger response after said contacting, wherein an abnormal second messenger response indicates that the disorder in the subject is associated with a mutation in an FGFR in the cell.
A method of detecting a congenital disorder in a subject, comprising:
- a) introducing a physiological indicator into prenatal cells obtained from the subject;
- b) contacting said cells with a ligand that can activate a receptor expressed in a wild type cell;
- c) detecting the effect of said ligand on said physiological indicator in the prenatal cells obtained from the subject;
- and
- d) comparing said effect of the ligand on said physiological indicator with the effect of the ligand on said physiological indicator in the wild-type cell, wherein a difference in effect is indicative of a congenital disorder in a subject.
Dependencies are inferred from the claim text.