invests $65,000 to support additional sites for natural history study

(International Rett Syndrome Foundation) Last year, the NIH National Center for Advancing Translational Science Rare Diseases Clinical Research Network funded the development of a consortium made up of 11 sites to study the natural history of Rett syndrome, MECP2 Duplication, CDKL5 disorder, and FOXG1 syndrome under their strong belief that collaborative activities are necessary to advance rare disease research. As a private rare disease foundation, knows that the benefits of partnering with other organizations dedicated to MECP2 and related disorders research are immeasurable.
Source: EurekAlert! - Medicine and Health - Category: Global & Universal Source Type: news

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ConclusionsThis study provides the first evidence that long-term treatment of adult female heterozygousMecp2tm1.1Bird mice and adult Rett patients with the antidepressant mirtazapine is well tolerated and that it protects from disease progression and improves motor, sensory, and behavioral symptoms.
Source: Journal of Neurodevelopmental Disorders - Category: Neurology Source Type: research
Domingo Palacios-Ceña Rare diseases face serious sustainability challenges regarding the distribution of resources geared at health and social needs. Our aim was to describe the barriers experienced by parents of children with Rett Syndrome for accessing care resources. A qualitative case study was conducted among 31 parents of children with Rett syndrome. Data were collected through in-depth interviews, focus groups, researchers’ field notes and parents’ personal documents. A thematic analysis was performed and the Standards for Reporting Qualitative Research (SRQR) guidelines were followed...
Source: International Journal of Environmental Research and Public Health - Category: Environmental Health Authors: Tags: 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
Publication date: Available online 21 June 2019Source: NeuroscienceAuthor(s): Gabriele Ruffolo, Pierangelo Cifelli, Catarina Lourenço, Eleonora De Felice, Cristina Limatola, Ana M. Sebastião, Maria J. Diógenes, Eleonora Aronica, Eleonora PalmaAbstractThe investigation on neurotransmission function during normal and pathologic development is a pivotal component needed to understand the basic mechanisms underlying neurodevelopmental pathologies. To study these diseases, many animal models have been generated which allowed to face the limited availability of human tissues and, as a consequence, the most o...
Source: Neuroscience - Category: Neuroscience Source Type: research
CONCLUSION: Integrative analysis of omics data and prior knowledge databases is a powerful approach to identify links between mutation and phenotype especially in rare disease research where little data is available. PMID: 30907210 [PubMed - as supplied by publisher]
Source: The World Journal of Biological Psychiatry - Category: Psychiatry Authors: Tags: World J Biol Psychiatry Source Type: research
In conclusion, a large number of approaches based on targeting microRNAs and long non-coding RNAs are expected in the field of molecular diagnosis and therapy, with a facilitated technological transfer in the case of rare genetic diseases, in virtue of the existing regulation concerning these diseases.
Source: Molecular Diagnosis and Therapy - Category: Molecular Biology Source Type: research
VIII World Rett Syndrome Congress&Symposium of Rare Diseases was held in Kazan, Russia from 13 to 17 May 2016. Although it has been a while since the event, specific problems highlighted by the contributors ...
Source: Molecular Cytogenetics - Category: Molecular Biology Authors: Tags: Review Source Type: research
Complex neurodevelopmental disorders need multi-disciplinary treatment approaches for optimal care. The clinical effectiveness of treatments is limited in patients with rare genetic syndromes with multisystem ...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Review Source Type: research
The mechanisms of neuro-genetic disorders have been mostly investigated in the brain, however, for some pathologies, transcriptomic analysis in multiple tissues represent an opportunity and a challenge to unde...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Review Source Type: research
Rett syndrome: a seminal book on extensive multidisciplinary analyses for rare disease, Published online: 25 May 2018; doi:10.1038/s41431-018-0163-xRett syndrome: a seminal book on extensive multidisciplinary analyses for rare disease
Source: European Journal of Human Genetics - Category: Genetics & Stem Cells Authors: Source Type: research
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