Journal of Genetic Syndromes & Gene Therapy
Open Access

Annual Congress on Rare Diseases & Orphan Drugs

October 26-27, 2016 Chicago, USA

Scientific Tracks Abstracts

• Tailored inhibition of cystine stone formation as a therapy for cystinuria

  Sahota A, Yang M, Goldfarb D S, Ward M D and Tischfield J A

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• Failures in brain energy metabolism unveil therapeutic targets for Huntington′s disease

  Maite A Castro

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• Epilepsy & rescue meds in schools

  Tyson E Dewsnup

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• NEO212: A new drug for Temozolomide resistant malignant gliomas

  Thomas C Chen, Florence M Hofman, Axel H Schonthal, Heeyon Cho and Weijun Wang

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• Management of life threatening hyperammonemia in children

  Philippe Jouvet

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• Defending the dream; perils beyond science and finance

  Laura K Sunderlin

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• Engaging families in research to drive progress: Phelan-McDermid Syndrome International Registry (PMSIR) and the Phelan-McDermid Foundation Data Network (PMS_DN)

  Megan O′Boyle

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• Fever of unknown origin: Case study

  Yusuf Hovsep Eken

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• A 20 days old patient with genital asymmetry

  Marise Abdou

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• Association between FBN1 polymorphisms and TGF-β1 concentration within aneurysms and dissections of ascending thoracic aorta

  Ramune Sepetiene

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• On-going exon 53 skipping clinical trial for Duchenne muscular dystrophy

  Shin′ichi Takeda

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• Rare disease research: Opportunities and challenges

  Lisa Baumbach-Reardon

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• COST action BM1207: Involving all stakeholders to overcome challenges of genetic therapy development for Duchenne muscular dystrophy

  Annemieke Aartsma-Rus

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• Overlap of metabolic and endocrine dysregulation during orphan disease-special focus on cardiovascular disease

  Prasanth Puthanveetil

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• Tapping untapped: Exploring role of ALDH in pharmacogenetic and toxicogenetic studies

  Nasir Ali Afsar

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• Network pharmacology based repurposed drugs combination for orphan diseases treatment

  Daniel Cohen

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• JBPOS0101: A new generation mGluR and BBB targeted broad spectrum antiepileptic drug for the treatment of super-refractory status epilepticus

  Yong Moon Choi

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• Digital measurements of health-regulatory science challenges opportunities in rare diseases

  Stephen P Arneric

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• Novel viral-free and oncogene-free induced pluripotent stem cell for orphan disease cell therapies

  Alan B Moy

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• Orphan drugs: Getting arms around rare diseases

  Irmak Duygu Koyuncu

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• The role of clinical genomic testing in treatment discovery for rare neurodevelopmental diseases

  Karen S Ho

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• Rare disease studies facilitated by taking study visits to the patients

  Gail Adinamis

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• A robust reprogramming approach to create viral-free and oncogene-free, orphan-disease specific induced pluripotent stem cells from peripheral blood mononuclear cells

  Alan B Moy

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• Challenges and opportunities in development of orphan drugs

  Moji C Adeyeye

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• Potential treatments for rare diseases: Cell therapy, gene therapy and genome editing

  Jacques P Tremblay

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• Cellular therapies for rare diseases

  Stephen Shrewsbury

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• Pricing, public health, & politics: Policy considerations for orphan products

  Anne Marie Finley

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