The Translational Genomics Research Institute

University of Zürich

The Clinic for Special Children

Navigenics, Inc.

Dietrich A Stephan

Andreas Papassotiropoulos

Michele Cargill

Eric M Reiman

Dominique J-f De Quervain

Erik G Puffenberger

Eran Halperin

Jennifer Wessel

Jennifer Webster

Melissa Floren Filippone

Christopher B Heward

Dominique J-F De Quervain

The present invention provides methods of determining a Genetic Composite Index score by assessing the association between an individual's genotype and at least one disease or condition. The assessment comprises comparing an individual's genomic profile with a database of medically relevant genetic variations that have been established to associate with at least one disease or condition.

Genetic analysis systems and methods

The present disclosure relates to genetic markers and methods of diagnosing and screening for late-onset Alzheimer's disease (LOAD). As such, the disclosure encompasses a whole-genome association analysis of single nucleotide polymorphisms (SNPs) of which a number are located within the GRB2-associated binding protein 2 (GAB2) gene as well as other markers associated with other genes. The disclosure identifies two novel haplotypes within the GAB2 gene, i.e., a LOAD risk-enhancing and a LOAD risk-decreasing haplotype. These haplotypes modify LOAD risk differentially in combination with APOE alleles. Further encompassed are therapeutic methods and agents of decreasing the deterioration of cells associated with LOAD.

Methods of diagnosing alzheimer's disease and markers identified by set association

The present invention relates to DNA sequences associated with human memory performance. It also provides methods for (i) screening for diseases and pathological conditions affecting human memory, (ii) identifying agents useful for treatment of diseases and pathological conditions affecting human memory, and (iii) agents and compositions useful for treatment of diseases and pathological conditions affecting human memory.

Genes affecting human memory performance

The identification of a novel mutation in the testis specific Y-like gene and association of the mutation with SIDDT syndrome are disclosed. Methods for diagnosing SIDDT syndrome are disclosed. Methods for identifying compounds for use in the diagnosis and treatment of disorders associated with mutation in the TSPYL gene are also disclosed. The invention therefore provides nucleic acid sequences, genes, polypeptides, antibodies, vectors containing the gene, host cells transformed with vectors containing the gene, animal models for the disease, methods for expressing the polypeptide, genetic screening methods and kits, diagnostic methods and kits.

Association of TSPYL polymorphisms with SIDDT syndrome

Growing community of inventors

Phoenix, AZ, United States of America

Dietrich A Stephan