Abstract: The present invention provides methods and compositions for screening a subject for Parkinson disease, for increased risk of developing Parkinson disease and/or for an earlier or later age of developing Parkinson disease, comprising detecting the presence of a genetic marker associated with Parkinson disease.

Abstract: The present invention provides, in certain aspects, a method of identifying a subject as having an increased risk of developing multiple sclerosis, comprising detecting in the subject the presence of a nucleotide variant in the interleukin 7 receptor alpha chain gene, whereby the presence of said variant identifies the subject as having an increased risk of developing multiple sclerosis.

Abstract: Focal and segmental glomerulosclerosis (FSGS) is a kidney disorder of unknown etiology and up to 20% of patients on dialysis have this diagnosis. A large family with hereditary FSGS carries a missense mutation in the TRPC6 gene on chromosome 11q, encoding the ion channel protein Transient Receptor Potential Cation Channel 6. The missense mutation is a P112Q substitution, which occurs in a highly conserved region of the protein, enhances TRPC6-mediated calcium signals in response to agonists such as angiotensin II, and alters the intracellular distribution of TRPC6 protein. Previous work has emphasized the importance of cytoskeletal and structural proteins in proteinuric kidney diseases. Our findings suggest a novel mechanism for glomerular disease pathogenesis.

Abstract: The present invention provides compositions and methods directed to the use of SLITRK1 (slit and trk like 1) mutations to identify, diagnose, and treat disorders in the obsessive-compulsive disorder spectrum. Specifically, the present invention provides methods of identifying a subject having an increased risk of developing a disorder in the OCD spectrum and/or diagnosing a disorder in the OCD spectrum in a subject by detecting in the subject a mutation in the SLITRK1 gene.

Abstract: The present invention provides methods of identifying a subject having an increased risk of developing autistic disorder, comprising: a) correlating the presence of one or more genetic markers within a GABAR subunit gene with an increased risk of developing autistic disorder; and b) detecting the one or more genetic markers of step (a) in the subject, thereby identifying the subject as having an increased risk of developing autistic disorder. Also provided are methods of identifying effective treatment regimens for autistic disorder, based on correlation with genetic markers a GABAR subunit gene. The present invention further provides methods of diagnosing an autistic disorder in a subject, comprising detecting genetic markers correlated with a diagnosis of an autistic disorder.

Abstract: Methods of identifying polymorphisms associated with hereditary spastic paraplegia (SPG), are described. The polymorphisms associated with SPG include specific mutations in the receptor expression enhancing protein 1 (REEP1) gene. Also described are methods of diagnosis of SPG.

Abstract: The LSAMP gene can be used for cardiovascular disease risk assessment, in particular Left Main Disease. The genetic risk attributable to LSAMP adds to known cardiovascular disease risk factors. Assessment of risk attributable to LSAMP permits early initiation of preventive and therapeutic strategies. Given the pronounced clinical risk associated with Left Main Disease, such risk assessment should significantly reduce morbidity and mortality.

Abstract: Focal and segmental glomerulosclerosis (FSGS) is a kidney disorder of unknown etiology and up to 20% of patients on dialysis have this diagnosis. A large family with hereditary FSGS carries a missense mutation in the TRPC6 gene on chromosome 11q, encoding the ion channel protein Transient Receptor Potential Cation Channel 6. The missense mutation is a P112Q substitution, which occurs in a highly conserved region of the protein, enhances TRPC6-mediated calcium signals in response to agonists such as angiotensin II, and alters the intracellular distribution of TRPC6 protein. Previous work has emphasized the importance of cytoskeletal and structural proteins in proteinuric kidney diseases. Our findings suggest a novel mechanism for glomerular disease pathogenesis.

Abstract: The present invention is directed to a method for diagnosing a subject as being or having a predisposition to being asthmatic. The present invention is also directed to methods of detecting whether a subject may be atopic by screening for genetic risk factors.

Abstract: The present invention discloses methods of screening a subject for Alzheimer's disease comprising detecting the presence or absence of a marker or functional polymorphism associated with a gene linked to Alzheimer's disease.

Abstract: The present invention provides methods and compositions for screening a subject for Parkinson disease, for increased risk of developing Parkinson disease and/or for an earlier or later age of developing Parkinson disease, comprising detecting the presence of a genetic marker associated with Parkinson disease.

Abstract: The present invention discloses methods of screening a subject for Parkinson's disease comprising detecting the presence or absence of a marker or functional polymorphism associated with a gene linked to Parkinson's disease.

Abstract: Methods are described for screening a subject for risk of Charcot-Marie-Tooth Disease Type 2A or for diagnosing Charcot-Marie-Tooth disease or a predisposition for developing Charcot-Marie-Tooth disease in a subject, by detecting the presence or absence of a mutation in the mitofusin gene in a biological sample collected from the subject. Methods are also described for detecting the presence of a genetic polymorphism associated with Charcot-Marie-Tooth Disease Type 2A in a sample of patient nucleic acid, by amplifying a mitofusin gene sequence in the patient nucleic acid to produce an amplification product; and identifying the presence of a Charcot-Marie-Tooth Disease Type 2A associated polymorphism in the amplification product.

Abstract: Methods of screening a subject for Parkinson's disease comprise detecting the presence or absence of a functional polymorphism associated with a gene linked to Parkinson's disease. The method may be used diagnostically or prognostically, including in clinical trials for the identification of treatments effective for treating patients carrying particular markers for Parkinson's disease.

Abstract: Methods of screening a subject for Alzheimer's disease comprise detecting the presence or absence of a marker or functional polymorphism associated with a gene linked to Alzheimer's disease. The presence of such a functional polymorphism indicates that the subject is afflicted with or at risk of developing Alzheimer's disease.

Abstract: The present invention discloses methods of screening a subject for Alzheimer's disease and/or Parkinson's disease comprising detecting the presence or absence of a marker or functional polymorphism associated with a gene linked to Alzheimer's disease and/or Parkinson's disease.