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2014 BDSRA Berkovic Adult NCL

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2014 BDSRA Berkovic Adult NCL

  1. 1. The Adult NCL Gene Discovery Consortium* Introduction In comparison to the childhood onset NCLs our understanding of the adult onset forms is limited. The Consortium aims to change this through gene discovery. Adult NCL is more difficult to diagnose than childhood forms as it is rare, not well studied and pathological diagnosis is challenging. STEP 1: Is Adult NCL the correct diagnosis? Based on the literature, we established formal criteria for diagnosis of Adult NCL. Clinical and pathological data are reviewed in detail by experts in the Consortium. The outcome of this review sees each patient classified according to the certainty of their diagnosis (i.e., Definite, Probable, Possible, or Not Adult NCL). STEP 2: Gene Discovery efforts What results do we have so far? Data on 49 putative Adult NCL patients has been collated to date. The formal Figure: Formal review process for Consortium patients with a diagnosis of Adult NCL. Adult NCL patients review process is complete for thirty-one. referred to Consortium members for genetic Importantly, 70% of cases classified so far as ‘Not Adult NCL’ (n=22): • Misdiagnosed with Kufs (n=17) • Inadequate review material (n=5) Single ‘Definite’ case subsequently tested positive for CLN6 mutations (known gene) What do these preliminary results tell us? Diagnosing Adult NCL is tough! Of the 49 cases studied, it is likely that only a small subset will meet the criteria for gene discovery efforts. What future benefits might this research lead to for the patient? • It will simplify the diagnostic process, requiring only a simple DNA sample. • There will be a greater understanding of the clinical and pathological features, including disease progression/prognosis. • Family members will be able to be tested for their genetic risk. • Opportunity for developing new treatment options will be created. research (n=48) Clinical data •Expert review Pathology •Expert review Overall Patient Classification according to Consortium consensus Not NCL (n=22) (n = 31 to date) Possible (n=3) Probable (n=1) Definite (n=5) Gene discovery efforts (n=9) Using Next-Generation Sequencing, all ~20,000 human genes will be searched for mistakes (or mutations) in the DNA sequence of each ‘Definite’, ‘Probable’ or ‘Possible’ Adult NCL disease case. Solved (n=1) * Adult NCL Consortium Members – The University of Melbourne: Samuel F Berkovic, Karen L Oliver, Katherine R Smith, Michael Hildebrand, John Damiano, Melanie Bahlo – Charles University in Prague: Stanislav Kmoch – University College London: Sara Mole, Glen Anderson – Harvard University in Boston: John Staropoli, Katherine Sims, Susan Cotman – Université de Montréal: Patrick Cossette, Maxime Dion-Caudieux – Hospital São João in Porto: Stirling Carpenter Contact: s.berkovic@unimelb.edu.au

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