Dad Fights For Cure For His Daughter's Disorder In Emotional Video

In August 2014, dad A.J. Tesler created a short video with the title "Save My Daughter. Share This Video." Eight months earlier, his toddler daughter Magnolia (aka "Maggie") had been diagnosed with a rare neurological disorder called Rett syndrome, and all YouTube ad revenue generated from the video would go toward funding clinical trial research to find a cure. Now the dad is continuing his fight to find a cure -- for his daughter and the 350,000 other girls and women affected by Rett syndrome. The debilitating disorder almost exclusively affects girls and generally involves slowed development, seizures and a progressive loss of the ability to move, talk and use hands, among other symptoms.   After Mark and Priscilla Zuckerberg announced the Chan Zuckerberg Initiative for "advancing human potential and promoting equality" in December 2015, Tesler decided to reach out to the couple for help.  The dad created an emotional video calling for the funding still needed to develop a cure. Addressed to Zuckerberg and Chan, the video shows Tesler holding cards that explain Maggie's condition and the potential for real breakthroughs in Rett syndrome research.  "My daughter cannot speak. She cannot use her hands. Walking is difficult for her. She spends most of her day hyperventilating," his cards read. "And that is considered mild for Rett syndrome." "Rett syndrome's cause is known and identifiable to...
Source: Science - The Huffington Post - Category: Science Source Type: news

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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
The reversal of the Rett syndrome disease process in the Mecp2 mouse model of Guy et al. (2007) has motivated families and researchers to work on this condition. The reversibility in adult mice suggests that t...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Position statement Source Type: research
Rett syndrome is caused by a pathogenic mutation in the MECP2 gene with major consequences for motor and cognitive development. One of the effects of impaired MECP2 function is reduced production of Brain Derived...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
In this study, we generated a mouse line carrying deletion of eight conserved amino acids in AT-hook 1 domain by clustered regularly interspaced short palindromic repeats (CRISPR)/Cas9 technology. Mecp2 ΔAT-hook1/y mutant male mice exhibited low locomotor activity, motor incoordination and cognitive deficit. In addition, these mutant mice exhibited increased anxiety. Moreover, pain insensitivity was noted in the mutant males. However, the social interactions were unaffected in AT-hook 1 mutant mice. Thinner CA1 region of the hippocampus was observed in the mutant mice. On the molecular basis, Western blot analysis sh...
Source: Biochimica et Biophysica Acta (BBA) Molecular Basis of Disease - Category: Molecular Biology Source Type: research
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