Dietrich A Stephan, Age 541261 Murrayhill Ave, Pittsburgh, PA 15217

8426130, Apr 23, 2013

Apr 21, 2008

12/148728

Dietrich A. Stephan - Phoenix AZ, US
Eric M. Reiman - Scottsdale AZ, US
Jennifer Webster - Pheonix AZ, US
Andreas Papassotiropoulos - Zurich, CH
Pamela Heward - Mesa AZ, US

Translational Genomics Research Institute - Phoenix AZ

C12Q 1/68
C07H 21/02
A61P 25/28
A61K 48/00

435 611, 435 612, 435 616, 536 231, 514 178, 514 44 R

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.

8583380, Nov 12, 2013

Sep 4, 2009

13/060425

Dietrich Stephan - San Francisco CA, US
Vern Norviel - San Jose CA, US
Janet Warrington - Los Altos CA, US
Doug Dolginow - Potomac MD, US

Aueon, Inc. - Menlo Park CA

G06F 19/10
G06F 19/18

702 20, 435 611

Personalized medicine involves the use of a patient's molecular markers to guide treatment regimens for the patient. The scientific literature provides multiple examples of correlations between drug treatment efficacy and the presence or absence of molecular markers in a patient sample. Methods are provided herein that permit efficient dissemination of scientific findings regarding treatment efficacy and molecular markers found in patient tumors to health care providers.

7993836, Aug 9, 2011

Jan 26, 2007

12/162262

Andreas Papassotiropoulos - Zurich, CH
Dietrich Stephan - Phoenix AZ, US
Dominique J.-F. De Quervain - Zurich, CH

Translational Genomics Research Institute - Phoenix AZ
University of Zurich - Zurich

C12Q 1/68
C12P 19/34
C07H 21/02

435 6, 435 912, 536 231

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.

2004012, Jul 1, 2004

Aug 29, 2001

09/940454

Dietrich Stephan - Falls Church VA, US
Tobey MacDonald - Washington DC, US
Kevin Brown - Washington DC, US

C12Q001/68

435/006000

Gene expression profiling of tumors, clinically designated as either metastatic (M+) or non-metastatic (M0), identifies genes whose expression differed significantly between classes. A class-prediction algorithm based on these medulloblastoma genes assigned the sample class to these tumors (M+ or M0) with 72% accuracy and to four additional independent tumors with a 100% accuracy. Class prediction also assigned the metastatic medulloblastoma cell line Daoy to the metastatic class. Notably upregulated in the M+ tumors were platelet derived growth factor receptor alpha (PDGFRA) and members of the downstream RAS/mitogen-activated protein kinase (MAPK) signal transduction pathway. Immunohistochemical validation on an independent set of tumors showed significant overexpression of PDGFRA in M+ tumors as compared to M0 tumors. In in vitro assays, PDGFA enhanced medulloblastoma migration and increased downstream MAP2K1 (MEK1), MAP2K2 (MEK2), MAPK1 (p42 MAPK), and MAPK3 (p44 MAPK) phosphorylation in a dose-dependent manner. Neutralizing antibodies to PDGFRA or U0126, a highly specific chemical inhibitor of MAP2K1 and MAP2K2 known as U0126, blocked MAP2K1, MAP2K2, and MAPK1/3 phosphorylation, inhibited migration, and prevented PDGFA-stimulated migration. These results provide the first insight into the genetic regulation of medulloblastoma metastasis and are the first to suggest a role for and the RAS/MAPK signaling pathway in medulloblastoma metastasis. Inhibitors of PDGFRA and RAS proteins, among others overexpressed M+ genes identified herein, represent novel therapeutic targets in medulloblastomas and other M+/MO tumors. The inventive method of prediction and targeted therapy is applicable to any tumor that exists in both M+ and MO forms, such as the neurotumors glioma, neuroblastoma and ependymoma, as well as lung and breast cancers.

2005015, Jul 21, 2005

Dec 8, 2004

11/007924

Erik Puffenberger - Ephrata PA, US
Dietrich Stephan - Phoenix AZ, US

The Clinic for Special Children - Strasburg PA

C12Q001/68
C07H021/04
C07K014/705

435006000, 435069100, 435320100, 435325000, 530350000, 536023500

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.

2008010, May 8, 2008

Aug 10, 2007

11/837326

Dietrich Stephan - Phoenix AZ, US
Matthew Huentelman - Phoenix AZ, US
Andreas Papassotiropoulos - Zurich, CH
Dominique de Quervain - Zurich, CH

A61K 31/551
A61K 31/167
A61K 31/472
A61K 31/4985
A61K 38/16
C12Q 1/68
A61P 25/28
A61K 38/10
A61K 31/505
A61K 31/519

514012000, 435006000, 514013000, 514014000, 514218000, 514250000, 514252160, 514275000, 514307000, 514613000

The present invention provides a method for improving learning and memory in a subject by administering a therapeutically effective amount of a compound of Formula I: or of Formula II: or of Formula III: (R)-Ser-Ile-Tyr-Arg-Arg-Gly-Ala-Arg-Arg-Trp-Arg-Lys-Leu —(R)  (III).

2008013, Jun 5, 2008

Jul 23, 2007

11/781679

Dietrich A. Stephan - Phoenix AZ, US
Melissa Floren Filippone - New York NY, US

C12Q 1/68
G06F 17/30
G06F 19/00

435 6, 702 20, 707 10

The present invention provides methods of assessing an individual's genotype correlations by analyzing the individual's genomic profile to a database of medically relevant genetic variations that have been established to correlate to a phenotype.

2009009, Apr 16, 2009

Sep 26, 2008

12/239718

Dietrich A. STEPHAN - San Francisco CA, US
Jennifer Wessel - San Francisco CA, US
Michele Cargill - Orinda CA, US
Eran Halperin - Berkeley CA, US

G06F 19/00

702 20, 702 19

The present disclosure provides methods and systems for assessing an individual's genotype correlations to a phenotype by analyzing the individual's genomic profile and using ancestral data to determine the correlations between genotypes and phenotypes.