Genzyme Corporation

The Johns Hopkins University

Cold Spring Harbor Laboratory

Other

Isis Pharmaceuticals, Inc.

Biogen Ma Inc.

Katherine W Klinger

William R Dackowski

Timothy C Burn

Timothy D Connors

Gregory M Landes

Gregory G Germino

Feng Qian

C Frank Bennett

Seng H Cheng

Frank Rigo

Gene Hung

Lamya S Shihabuddin

Marco A Passini

Adrian R Krainer

Yimin Hua

Terence J Van Raay

Terence Van Raay

Ann E Bowe

Anna M Mahr

Alyson L Ruff-Roberts

Greg Landes

Karen Pavelka

Timothy W Houseal

Disclosed herein are compounds, compositions and methods for modulating splicing of SMN2 mRNA in a subject. Also provided are uses of disclosed compounds and compositions in the manufacture of a medicament for treatment of diseases and disorders, including spinal muscular atrophy.

Compositions and methods for modulation of SMN2 splicing in a subject

The present invention provides methods and compositions for treating cyst formation in PKD1-associated epithelial cells. Such methods encompass administering an isolated human PKD1 gene, or fragments of the gene, under conditions that result in expression of therapeutically effective amounts of all, or part of, the PKD1 protein. The invention also encompasses compositions for treating cyst formation associated with APKD.

Polycystic kidney disease gene

The present invention involves isolated nucleic acid encoding human PKD1, and sequences derived therefrom. The invention also encompasses vectors comprising these nucleic acids, host cells transformed with the vectors, and methods for producing PKD1 protein or fragments thereof. In another aspect, the invention involves isolated oligonucleotides that hybridize only to the authentic expressed PKD1 gene, and not to PKD1 homologues. In yet another aspect, the invention involves isolated mutant PKD1 genes, and their cDNA cognates. Further provided are isolated oligonucleotides that discriminate between normal and mutant versions of the PKD1 gene. Methods and compositions for treating APKD or disease conditions having the characteristics of APKD are also provided.

Polycystic kidney disease gene and protein

In accordance with the present invention, there are provided isolated nucleic acids encoding a human netrin, a human ATP binding cassette transporter, a human ribosomal L3 subtype, and a human augmenter of liver regeneration as well as isolated protein products encoded thereby. The present invention provides nucleic acid probes that hybridize to invention nucleic acids as well as isolated nucleic acids comprising unique gene sequences located on chromosome 16. Further provided are vectors containing invention nucleic acids, host cells transformed therewith, as well as transgenic non-human mammals that express invention polypeptides. The present invention includes antisense oligonucleotides, antibodies and compositions containing same. Additionally, the invention provides methods for identifying compounds that bind to invention polypeptides.

Human chromosome 16 genes, compositions, methods of making and using same

This invention provides an isolated human netrin polypeptide. Netrins define a family of diffusable factors involved in axon outgrowth.

Single stranded nucleic acid molecules, which can be used as probes to detect human chromosomes 13, 18, 21, X and Y are described. These probes are useful alone or in combination for diagnosing aneuploidies of the five chromosomes which comprise 95% of liveborn chromosomal aneuploidies.

DNA probes for detecting the most common liveborn chromosomal

The subject invention relates to a method for processing a liquid sample of biological material by: a) transferring a liquid sample containing both uncultured informative cells and non-informative cells onto a substrate wherein the surface tension of the liquid sample is sufficient to maintain the liquid sample beaded on the surface of the substrate; b) incubating the beaded liquid sample on the surface of the substrate for a period of time appropriate for the selective settling of the informative cells onto the surface of the substrate; and c) breaking the surface tension of the liquid portion of the sample wherein the liquid portion of the sample is removed along with the non-informative cells and wherein the informative cells remain on the surface of the substrate. A kit for performing the method is also provided.

Method for obtaining informative cells

The method of the present invention relates to a rapid procedure for detecting DNA in a cell, while preserving the morphology of the nucleus for analysis. The method comprises depositing a cell onto a polymeric membrane filter wherein the DNA contained in the cell is retained on the polymeric membrane filter and is available for binding with a fluorescently labeled nucleic acid probe, incubating the polymeric membrane filter with the labeled nulceic acid probe, and detecting the labeled nulceic acid probe wherein detection of the nulceic acid probe is indicative of the presence of the DNA. There are no separate permeabilization steps needed to permit the probes to enter the cell and hybridize to the DNA. The method is simple and quick and is applicable to the sample volumes found in clinical laboratories.

Method of detecting cellular material

Growing community of inventors

Sudbury, MA, United States of America

Katherine W Klinger