Guest Post: Epilepsy Foundation on rare diseases

Conversations and healthy debate about issues facing our industry and the health care system are critical to addressing some of today ’s challenges and opportunities. The Catalyst welcomes guest contributors, including patients, stakeholders, innovators and others, to share their perspectives and point of view. Views represented here may not be those of PhRMA, though they are no less key to a healthy dialogue on issues in health care today.We are pleased to host a Q&A with Angela Ostrom, chief legal officer&vice President public policy for the Epilepsy Foundation.
Source: The Catalyst - Category: Pharmaceuticals Authors: Tags: Rare Diseases Source Type: news

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Authors: Strzelczyk A, Schubert-Bast S Abstract INTRODUCTION: Dravet syndrome (DS), a prototypic developmental and genetic epileptic encephalopathy (DEE), is characterized by an early onset of treatment-refractory seizures, together with impairments in motor control, behavior, and cognition. Even with multiple conventional anti-epileptic drugs, seizures remain poorly controlled, and there has been a considerable unmet need for effective and tolerable treatments. AREAS COVERED: This targeted literature review aims to highlight recent changes to the therapeutic landscape for DS by summarizing the most up-to-date, evi...
Source: Expert Review of Neurotherapeutics - Category: Neurology Tags: Expert Rev Neurother Source Type: research
Tuberous sclerosis complex (TSC) is a genetic disorder that cause tumors to form in many organs. These lesions may lead to epilepsy, autism, developmental delay, renal, and pulmonary failure. Loss of function ...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
Mowat –Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene. It is characterized by moderate-severe intellectual disability, epilepsy, Hirschspr...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
ConclusionPaediatric rare genetic conditions appear to be associated with substantial parental health spillovers. This highlights the importance of including health effects on family members and caregivers into economic evaluation of genomic technologies and personalised medicine. Overlooking spillover effects may undervalue the benefits of diagnosis and management in this context. This study also expands the knowledge of family spillover to the rare disease spectrum.
Source: Quality of Life Research - Category: Health Management Source Type: research
Blue rubber bleb nevus syndrome (BRBNS), also called Bean's syndrome, is a rare disease associated with multiple venous malformations in the skin and gastrointestinal (GI) tract. Dermatological lesions, which are the first clinically visible manifestations, appear as skin-colored compressible protuberances or as dark-blue venous nodules, rubbery in consistency. Central nervous system (CNS) manifestations are rare, variable, non-specific, and tend to occur late in the disease, mainly reported as seizures and focal neurological deficits secondary to compression. Most cases occur sporadically, however, an autosomal dominant i...
Source: Frontiers in Neurology - Category: Neurology Source Type: research
This article has an associated First Person interview with the first author of the paper.
Source: DMM Disease Models and Mechanisms - Category: Biomedical Science Authors: Tags: Rare diseases RESEARCH ARTICLE Source Type: research
Abstract Structural Maintenance of Chromosomes (SMCs) are part of a large family of ring complexes that participates in a number of DNA transactions. Among SMCs, SMC1A gene is unique. It encodes a subunit of the cohesin-core complex that tethers sister chromatids together to ensure correct chromosome segregation in both mitosis and meiosis. As a member of the cohesin ring, SMC1A takes part in gene transcription regulation and genome organization; and it participates in the DNA Damage Repair (DDR) pathway, being phosphorylated by Ataxia Telangiectasia Mutated (ATM) and Ataxia Telangiectasia and Rad3 Related (ATR) t...
Source: Gene - Category: Genetics & Stem Cells Authors: Tags: Gene Source Type: research
Abstract PURPOSE OF REVIEW: The purpose of this report is to review recent research findings on APS in children and neonates. RECENT FINDINGS: European evidence-based recommendations for diagnosis and treatment of pediatric APS has recently been published by the SHARE Initiative. Recent studies have shown a high prevalence of non-thrombotic manifestations in children with aPL, domains 4/5 specificity of 'innocent' anti-β2GPI antibodies in infants, and a higher risk for developmental delays and learning disabilities, hence, the need for neurodevelopmental monitoring in children born to mothers with APS. A...
Source: Epilepsy Curr - Category: Neurology Authors: Tags: Curr Rheumatol Rep Source Type: research
AbstractPurpose of ReviewThe purpose of this report is to review recent research findings on APS in children and neonates.Recent FindingsEuropean evidence-based recommendations for diagnosis and treatment of pediatric APS has recently been published by the SHARE Initiative. Recent studies have shown a high prevalence of non-thrombotic manifestations in children with aPL, domains 4/5 specificity of ‘innocent’ anti-β2GPI antibodies in infants, and a higher risk for developmental delays and learning disabilities, hence, the need for neurodevelopmental monitoring in children born to mothers with APS. An Intern...
Source: Current Rheumatology Reports - Category: Rheumatology Source Type: research
In this study, we determined the efficacy of ACTON PROLONGATUM® (AP; Ferring Pharmaceuticals) in comparison with Acthar® Gel (Mallinckrodt) and full 39 amino-acid rat ACTH molecule (Genscript) in the rodent model of IS consisting of prenatal priming with betamethasone and repeated postnatal trigger of spasms with N-methyl-d-aspartate. Treatment with these ACTH varieties was given on postnatal days (P)12, P13, and P14 in a prospective test (treatment onset on P12 AFTER induction of spasms). Two independent arms were investigated: subcutaneous (SC) and intramuscular (IM) deliveries that were evaluated separately. In ...
Source: Epilepsy and Behavior - Category: Neurology Source Type: research
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