Taiwanese researchers discover link between gene and rare brain disorder

MALFORMATION:
One of the causes of lissencephaly is mutation of the CEP85L gene, which might not be hereditary, a researcher said, urging prenatal controls

  • By Lee I-chia / Staff reporter

Researchers yesterday said that they have identified a gene that is an important cause for posterior predominant lissencephaly, a rare brain disorder.

Kaohsiung Chang Gung Memorial Hospital’s Department of Neurology Epilepsy Section director Tsai Meng-han (蔡孟翰) said that the brain normally has folds, or gyri, which correlate with specific cognitive abilities.

However, people with lissencephaly have gyral malformations that cause parts or the entire surface of their brains to appear smooth, which gives the disorder its name, meaning “smooth brain.”

Lissencephaly is a rare brain malformation caused by gene mutations, with an incidence rate of about 12 per million among newborns, he said, adding that there are an estimated 300 cases in Taiwan.

The life expectancy of most people

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New Data Show Genentech’s Enspryng Significantly Reduces Severity and Risk of Relapse in Neuromyelitis Optica Spectrum Disorder

SOUTH SAN FRANCISCO, Calif.–(BUSINESS WIRE)–Genentech, a member of the Roche Group (SIX: RO, ROG; OTCQX: RHHBY), will present new Enspryng (satralizumab-mwge) data on reducing relapse severity in the treatment of neuromyelitis optica spectrum disorder (NMOSD), a rare disease of the central nervous system. These data are being presented at MSVirtual2020, the 8th Joint Americas Committee for Treatment and Research in Multiple Sclerosis (ACTRIMS) – European Committee for Treatment and Research in Multiple Sclerosis (ECTRIMS) Meeting, in addition to longer-term efficacy data supporting the continued effect of Enspryng on reducing the risk of NMOSD relapse, as well as its favorable benefit:risk profile.

“The data for Enspryng at MSVirtual2020 are promising and suggest it significantly reduces relapse severity and frequency, which are important goals of the treatment for people with NMOSD,” said Anthony Traboulsee, M.D., neurologist and professor, University of British Columbia, and Research Chair of the MS

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New data show Roche’s ENSPRYNG (satralizumab) significantly reduces severity and risk of relapse in neuromyelitis optica spectrum disorder (NMOSD)

  • ENSPRYNG lowered relapse severity in double-blind periods of SAkura Phase III studies.

  • Pooled data from SAkura open-label extension (OLE) studies support continued effect of ENSPRYNG reducing risk of relapse in the longer term

  • Ongoing data continues to show a favourable safety profile for ENSPRYNG

  • ENSPRYNG was recently approved by the U.S. Food and Drug Administration (FDA) for adults with anti-aquaporin-4 (AQP4) antibody positive NMOSD

Basel, 10 September 2020 – Roche (SIX: RO, ROG; OTCQX: RHHBY) will present new ENSPRYNG® (satralizumab) data on reducing relapse severity in the treatment of neuromyelitis optica spectrum disorder (NMOSD), a rare disease of the central nervous system. These data are being presented at MSVirtual2020, the 8th joint ACTRIMS-ECTRIMS meeting, in addition to longer-term efficacy data supporting the continued effect of ENSPRYNG on reducing the risk of NMOSD relapse, as well as its favourable benefit:risk profile.

“The data for ENSPRYNG at MSVirtual2020 are promising and

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