Journal of Genetic Syndromes & Gene Therapy
Open Access

Annual Congress on Rare Diseases & Orphan Drugs

October 26-27, 2016 Chicago, USA

Posters & Accepted Abstracts

• An online survey of neurologists about Charcot-Marie-Tooth disease type 1A

  Xavier Paoli

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• The first case report of Raoultella planticola liver abscess

  Moamen Al Zoubi, Sujata Sitaula, Anahita Shahrrava and James Malow

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• Rapid progression osteolysis in Gorham Stout syndrome: A case report and literature review

  Leonardo Cano Cevallos and Ivan Cherrez Ojeda

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• The future products: Antimicrobial potential of biomimetic synthesized nanoparticles

  Abhijeet Singh and Madan Mohan Sharma

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• Access to orphan drugs: A Malaysian perspective

  Abida Syed M Haq

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• Short bowel syndrome is a rare disease gaining popularity

  Andrew E Jablonski

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• RAS/BRAF mutational status in familial non-medullary thyroid carcinomas

  Anna Ciampolillo

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• A rare disease journey using grace and communication to create a team of experts

  Anne Bruns

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• Systemic amyloidosis: The paradigm of a rare disease on brink of change

  Ashutosh Wechalekar

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• A mutant mouse model of Hajdu-Cheney syndrome

  Canalis E

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• FVC deterioration, airway obstruction determination and life span in Ataxia telangiectasia

  Daphna Vilozni

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• A novel in vitro platform for the screening of therapeutics for the treatment of hereditary osteoblastdependent disorders

  Dimitra Micha

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• Idiopathic spontaneous bladder rupture: An exceedingly rare entity

  Farshid Alizadeh

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• Link between malignant hyperthermia susceptibility (MHS) and exertion/environmental heat stroke (EHS): Is it just a hypothesis?

  Feliciano Protasi

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• Value creation and transformative opportunities in the rare diseases space: Lessons learned & what lies ahead

  Francois Nader

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• Kartagener syndrome occurring simultaneously in a Filipino child with 5p- (Cri du chat) syndrome

  Hazel Ann Bugarin David

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• Exome, genome and RNA sequencing for diagnosis of pediatric mitochondrial disease: Integration of NGS strategies and functional analysis for in both mitochondrial DNA and nuclear genes encoding mitochondrial proteins

  Isabelle Thiffault

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• Future challenges in rare diseases: Transcranial magnetic stimulation a new therapeutic strategy for Huntington′s disease

  Isaac Tunez

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• Impairment of regulated exocytosis in rare human diseases with immunodeficiency: Lessons learned from Chediak-Higashi syndrome

  Konrad Krzewski

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• Evaluation of adherence to treatment in patients with hereditary angioedema due to C1 inhibitor deficiency: A comparison of three alternative strategies

  Maria Bova

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• Challenges of clinical trials in rare diseases: The learning experience of Duchenne muscular dystrophy

  Michela Guglieri

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• Temperature, pH and calcium: Arrhythmogenic triggers in mixed long QT3 and Brugada syndrome

  Peter C Ruben, Colin H Peters and Mena Abdelsayed

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• Diabetes in the young: Rare forms hidden within an increasing world incidence

  Stephen Greene

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• Discovery of novel genes associated with mitochondrial diseases by NGS

  Taosheng Huang

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• Incorporation of unnatural amino acids restores dystrophin expression in a mouse model of muscular dystrophy

  Xia Qing, Jiaqi Lu, Qi Yang, Tianchang Wang, Renyang Xu, Yuyao Tian and Le Tong

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• Neurobiology and neurochemistry of Smith-Lemli-Opitz syndrome

  Zeljka Korade

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