Girl, aged 5, raises $25,000 selling lemonade for disabled brother

A five-year-old girl from Toronto, has raised $25, 000 in the hope that a cure can be found for her brother's disability
Source: Telegraph Health - Category: Consumer Health News Tags: Foundation for Angelman Syndrome Theraputics Foundation for Angelman Syndrome Therapeutics colin farrell fundraising Source Type: news

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Possibility of early diagnosis in a fetus affected by Prader‑Willi syndrome with maternal hetero‑UPD15: A lesson to be learned. Mol Med Rep. 2019 May 15;: Authors: Dong Y, Liu S, Li J, Li J, Chen Q, Luo J, Li C, Li H, Qi H, Li R Abstract Prader‑Willi syndrome (PWS), a complicated neurodevelopmental disorder arising from errors in genomic imprinting, is characterized by evident hypotonia along with feeding difficulties and the absence of crying in early infancy. Hyperphagia and obesity are not uncommon in patients with PWS, usually accompanied by intellectual disability, cognitive impairment, shor...
Source: Molecular Medicine Reports - Category: Molecular Biology Tags: Mol Med Rep Source Type: research
Contributors : Lee Koyavski ; Lilach Simchi ; Lital Sharvit ; Hanoch Kaphzan ; Julia Panov ; Prudhvi R Rayi ; Yonatan FeuermannSeries Type : Expression profiling by high throughput sequencingOrganism : Mus musculusAngelman syndrome (AS) is a genetic disorder which entails autism, intellectual disability, lack of speech, motor deficits, andseizure susceptibility. It is caused by the lack of UBE3A protein expression, which is an E3-ubiquitin ligase. Despite AS equalprevalence in males and females, not much data on how sex affects the syndrome was reported. In the herein study, we thoroughlycharacterized many behavioral pheno...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research
Nagore Elu1, Nerea Osinalde2, Javier Beaskoetxea1, Juanma Ramirez1, Benoit Lectez1, Kerman Aloria3, Jose Antonio Rodriguez4, Jesus M. Arizmendi1 and Ugo Mayor1,5* 1Department of Biochemistry and Molecular Biology, Faculty of Science and Technology, University of the Basque Country (UPV/EHU), Leioa, Spain 2Department of Biochemistry and Molecular Biology, Faculty of Pharmacy, University of the Basque Country (UPV/EHU), Vitoria-Gasteiz, Spain 3Proteomics Core Facility-SGIKER, University of the Basque Country (UPV/EHU), Leioa, Spain 4Department of Genetics, Physical Anthropology and Animal Physiology, University of ...
Source: Frontiers in Physiology - Category: Physiology Source Type: research
Conclusion The findings of this study suggest that buspirone may be effective for the amelioration of behaviors related to anxiety in patients with AS, and well tolerated. Limitations include the open-label nature of these treatments, the small sample size and the absence of a control group.
Source: Psychiatric Genetics - Category: Genetics & Stem Cells Tags: ORIGINAL ARTICLES Source Type: research
Angelman syndrome (AS) is a genetic and neurological disorder characterized by severe developmental delay and learning disabilities, speech impairment, ataxia, tremulousness with jerky movements of limbs and a happy, sociable disposition. This disorder affects males and females in equal numbers with a prevalence of approximately 1 in 12,000-20,000 live births. The etiology is the loss of function of the imprinted UBE3A gene in 15q11-q13. The four known mechanisms include chromosome deletions, genetic imprinting errors, mutations in the UBE3A gene, and paternal uniparental disomy (UPD) [1].
Source: European Journal of Obstetrics, Gynecology, and Reproductive Biology - Category: OBGYN Authors: Tags: Short communication Source Type: research
Conclusion The findings of this study suggest that buspirone may be effective for the amelioration of behaviors related to anxiety in patients with AS, and well tolerated. Limitations include the open-label nature of these treatments, the small sample size and the absence of a control group.
Source: Psychiatric Genetics - Category: Genetics & Stem Cells Tags: ORIGINAL ARTICLES Source Type: research
AbstractAngelman syndrome (AS) is a genetic disorder which entails autism, intellectual disability, lack of speech, motor deficits, and seizure susceptibility. It is caused by the lack of UBE3A protein expression, which is an E3-ubiquitin ligase. Despite AS equal prevalence in males and females, not much data on how sex affects the syndrome was reported. In the herein study, we thoroughly characterized many behavioral phenotypes of AS mice. The behavioral data acquired was analyzed with respect to sex. In addition, we generated a new mRNA sequencing dataset. We analyzed the coding transcriptome expression profiles with res...
Source: Molecular Neurobiology - Category: Neurology Source Type: research
ConclusionsTaking into account the novel finding reported in this study, we consider that CSS should be added to the expanding list of differential diagnoses for AS.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
Discussion Silver-Russell syndrome (SRS) is a rare genetic syndrome first characterized by Silver in 1953 and Russell in 1954. Patients with SRS have characteristic growth patterns and clinical findings, although within an individual patient there are phenotypical differences. Patients are born small-for-gestational age (SGA) but have a relative macrocephaly. There is postnatal growth failure and difficulty feeding, with a very low body mass index. Body asymmetry (e.g. hemihypertrophy) and facial features (i.e. protruding forehead, triangular facies, micrognathia, dental anomalies, downturned mouth corners, and ear anomali...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news
ConclusionsThese findings indicate good tolerability of ERP procedures (85% success rate). The lack of own name differentiation is consistent with increased incidence of the autism ‐related symptoms in AS. Strong associations between the caregiver reports of adaptive functioning and neural indices of known name recognition support the utility of brain‐based measures for objectively evaluating cognitive and affective processes in nonverbal persons with neurodevelopmental di sorders.
Source: Journal of Intellectual Disability Research - Category: Disability Authors: Tags: Original Manuscript Source Type: research
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