Specialty Pharma Journal Specialty, Precision & Technology
The U.S. Food and Drug Administration today finalized two guidances to drive the efficient development of a novel technology that scans a person’s DNA to diagnose genetic diseases, which are usually hereditary, and guide medical treatments. The guidances provide recommendations for designing, developing, and validating tests that use the technology, …
Tag Archives: Genetic Diseases
April, 2018
January, 2018
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12 January
OPKO’s GeneDx and Radboud Collaborate to Identify Novel Genes and Pathways to Understand Genetic Diseases
MIAMI, Jan. 12, 2018 (GLOBE NEWSWIRE) — OPKO Health, Inc. (NASDAQ:OPK), announces today that GeneDx, Inc., a subsidiary of OPKO’s BioReference Laboratories, has entered into a research collaboration with the Radboud University Medical Center, Nijmegen, Netherlands. Through the agreement, GeneDX and Radboud aim to identify novel genes and pathways to help understand the …
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8 January
Alnylam and Sanofi Enter Strategic Restructuring of RNAi Therapeutics Rare Disease Alliance
CAMBRIDGE, Mass. & PARIS–(BUSINESS WIRE)–Alnylam Pharmaceuticals, Inc. (Nasdaq: ALNY), the leading RNAi therapeutics company, and Sanofi announced today a strategic restructuring of their RNAi therapeutics alliance to streamline and optimize development and commercialization of certain products for the treatment of rare genetic diseases. Specifically, Alnylam will obtain global development and commercialization rights …
May, 2017
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16 May
Alexion and Rady Children’s Institute for Genomic Medicine Partner to Speed Diagnosis of Rare Genetic Disorders in Newborns
SAN DIEGO & NEW HAVEN, Conn.–(BUSINESS WIRE)–The Rady Children’s Institute for Genomic Medicine (RCIGM) and Alexion Pharmaceuticals, Inc. (NASDAQ:ALXN) today announced a strategic partnership to accelerate the diagnosis of critically-ill newborns with rare genetic disorders. The collaboration combines the Institute’s genomic research expertise with Alexion data science and bioinformatics capabilities …
March, 2017
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24 March
Regeneron, UK Biobank and GSK Enter Gene Sequencing Initiative
TARRYTOWN, N.Y., March 22, 2017 /PRNewswire/ — Regeneron Pharmaceuticals, Inc. (NASDAQ: REGN), today announced a major research initiative among the Regeneron Genetics Center (RGC), U.K. Biobank and GSK to generate genetic sequence data from the 500,000 volunteer participants in the U.K. Biobank resource. The initiative will enable researchers to gain …
August, 2016
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15 August
New Protein Target Emerges for C9orf72 the Most Common Genetic Form of ALS
WASHINGTON, Aug. 12, 2016 /PRNewswire-USNewswire/ — Targeting a single protein, called SUPT4H1, reduces the levels of the three toxic entities created by the C9orf72 gene expansion, the most common genetic cause of ALS, according to a study published in the journal Science. The finding suggests that SUPT4H1 may be a …
June, 2016
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20 June
FDA Clears Sangamo Biosciences’ IND for ZFN-Mediate Genome Editing Treatment of MPS II
RICHMOND, Calif., June 20, 2016 /PRNewswire/ — Sangamo BioSciences, Inc. (NASDAQ: SGMO), the leader in therapeutic genome editing, announced that the U.S. Food and Drug Administration (FDA) has cleared the Company’s Investigational New Drug application (IND) for SB-913, a zinc finger nuclease (ZFN)-mediated approach designed as a single treatment with …
May, 2016
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11 May
Gene Mutations Shown to Cause Form of HSP
Scientists at the Montreal Neurological Institute and Hospital (MNI) have identified novel gene mutations that cause hereditary spastic paraplegia (HSP), a step forward in efforts to treat this debilitating disease. It is estimated that between two and 10 people per 100,000 in the general population have HSP, a disease characterized …
December, 2015
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9 December
OPKO’s GeneDx Study Reveals Usefulness of Whole Exome Sequencing in Diagnosing Rare Disorders
MIAMI–(BUSINESS WIRE)–OPKO Health, Inc. (NYSE:OPK) announced today through its subsidiary GeneDx, results from a retrospective review of molecular diagnostic testing by Whole Exome Sequencing (WES). The peer-reviewed study, “Clinical Application of Whole Exome Sequencing across Clinical Indications,” was published in the December 2015 issue of Genetics in Medicine. It is …
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8 December
FDA Approves Alexion’s Kanuma for Patients with a Rare Enzyme Disease
CHESHIRE, Conn.–(BUSINESS WIRE)–Alexion Pharmaceuticals, Inc. (NASDAQ: ALXN) announced today that the U.S. Food and Drug Administration (FDA) has approved Kanuma™(sebelipase alfa) for the treatment of patients of all ages with a diagnosis of lysosomal acid lipase deficiency (LAL-D). Kanuma, an innovative enzyme replacement therapy (ERT), is the first therapy approved …