Tubby-Like Human Gene Causes Inherited Blindness, Reports NATURE GENETICS.SOUTH SAN FRANCISCO South San Francisco, city (1990 pop. 54,312), San Mateo co., W Calif.; inc. 1908. South San Francisco has several industrial parks; its manufactures include medical supplies and equipment, foods, paint, paper products, consumer goods, and clothing. , Calif.--(BW HealthWire)--Feb. 2, 1998--A human gene related to the mouse obesity gene known as "tubby" is responsible for a form of an inherited blindness disorder, commonly known as retinitis pigmentosa Retinitis Pigmentosa Definition Retinitis pigmentosa (RP) refers to a group of inherited disorders that slowly lead to blindness due to abnormalities of the photoreceptors (primarily the rods) in the retina. (RP), it was reported today in the February issue of NATURE GENETICS. In a paper by scientists at AXYS Pharmaceuticals, Inc. (NASDAQ NASDAQ in full National Association of Securities Dealers Automated Quotations U.S. market for over-the-counter securities. Established in 1971 by the National Association of Securities Dealers (NASD), NASDAQ is an automated quotation system that reports on :AXPH) in collaboration with Stephanie Hagstrom, Ph.D., Thaddeus Dryja, M.D., and Eliot Berson, M.D., of the Massachusetts Eye and Ear Infirmary Massachusetts Eye and Ear Infirmary, known locally as Mass. Eye & Ear, is a specialty hospital providing patient care for disorders of the eye, ear, nose, throat, head and neck. and Harvard Medical School Harvard Medical School (HMS) is one of the graduate schools of Harvard University. It is a prestigious American medical school located in the Longwood Medical Area of the Mission Hill neighborhood of Boston, Massachusetts. and with researchers from The Jackson Laboratory in Bar Harbor, Maine Bar Harbor, Maine, may refer to:
[Af.] a form of poisoning caused by moraea and homeria spp. plants. 1 (tubby-like protein 1) mutations predispose pre·dis·pose v. To make susceptible, as to a disease. carriers to the ocular disorder which is more formally referred to as autosomal recessive Autosomal recessive A pattern of inheritance in which both copies of an autosomal gene must be abnormal for a genetic condition or disease to occur. An autosomal gene is a gene that is located on one of the autosomes or non-sex chromosomes. retinitis pigmentosa (ARRP ARRP Animal Research Review Panel (Australia) ARRP Acid Rain Research Program ARRP Adverse Reaction Reporting Project (UK, dental materials) ARRP Asbestos Roof Replacement Program ). A previous study published by AXYS and Jackson Laboratory researchers in Proceeding of the National Academy of Sciences in April 1997 reported the identification of TULP1 and its mapping to a region of human chromosome 6 that contained a gene for ARRP. AXYS was recently issued U.S. Patent No. 5,686,598 covering the full length sequence of the TULP1 gene and its protein product. Additionally, the U.S. Patent and Trademark Office has issued to AXYS a patent relating to TULP2, a second tubby-like protein sequence identified by the AXYS/Jackson Laboratory team and linked to ocular disease. Discovery of the tubby gene was published in April 1996 in the British scientific journal NATURE by Dr. Michael North of AXYS (then Sequana Therapeutics) and Drs. Patsy Nishina, Jurgen Naggert, and Konrad Noben-Trauth of The Jackson Laboratory. According to Tim Harris, Ph.D., senior vice president, research, AXYS/La Jolla, "Today's NATURE GENETICS publication is important in its expansion of the knowledge base surrounding this gene and its normal function in a cell. Also important is the suggestion that within a single gene family, the same biochemical mechanism biochemical mechanism Any chemical reaction or series of reactions, often enzyme-mediated, which result in a physiologic effect can be involved in a variety of disease states. We suspect that the tubby family of genes is responsible for diseases other than obesity and retinal degeneration. We believe that this accomplishment has the potential to contribute to the development of novel therapeutics for a wide range of diseases." AXYS is currently engaged in additional studies with the Harvard group to evaluate the function of the TULP1 gene product, with the ultimate goal being the development of diagnostic and therapeutic opportunities in RP. Retinitis pigmentosa is an inherited condition in which the photoreceptor cells degenerate over an individual's lifetime. The course of the disease can be slowed with Vitamin A supplementation. Severe visual impairment characterizes the condition, and it frequently ends in blindness. AXYS Pharmaceuticals is a leader in the integration of drug discovery technologies from gene identification through clinical development and is focused on the discovery of small molecule therapeutics. The company has research collaborations with world-class pharmaceutical companies, covering a broad range of therapeutic areas, including respiratory, cardiovascular, metabolic, and infectious disease, as well as oncology and central nervous system disorders Nervous system disorders A satisfactory classification of diseases of the nervous system should include not only the type of reaction (congenital malformation, infection, trauma, neoplasm, vascular diseases, and degenerative, metabolic, toxic, or deficiency . -0- Except for the historical information contained herein, this press release contains forward-looking statements that involve risks and uncertainties that could cause the Company's actual results to differ materially from those discussed here, including the risk that additional patents may not issue to the Company or that issued patents may not provide adequate protection, the Company's early stage of development, the risk of the Company's reliance on the efforts of its collaborative partners, competition, and general economic conditions that may affect the Company's actual results and developments. Additional factors that could cause or contribute to such differences include, but are not limited to, those discussed in the sections entitled "Business Risks" in the Company's SEC Reports, including the report on Form 10-K for the fiscal year ended December 31, 1996 and the Company's Report on Form 10-Q for the quarter ended September 30, 1997, as well as those discussed in the section entitled "Risk Factors" in the Company's Registration Statement on Form S-4 filed with the SEC on November 26, 1997. CONTACT: AXYS Pharmaceuticals John Walker or Shari Annes, 650/829-1000 http://www.axyspharm.com |
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