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Success! Growth of cells from ARSACS patient skin

In News Archives by ARSACS

Dr. Paul Chapple’s lab has successfully grown cells from a small biopsy of ARSACS patient skin and has reprogrammed them to become stem cells which can turn into other cell types. The following step was to grow ARSACS neurons from such stem cells. This resulted in obtaining ARSACS patient neurons in a petri dish available for research; a useful tool for …

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Alliance between ARSACS Foundation and Ataxia UK

In News Archives by ARSACS

The Ataxia of Charlevoix-Saguenay Foundation and Ataxia UK are pleased to announce a co-funding alliance to support and to advance medical research in the UK on ataxia of Charlevoix-Saguenay. This alliance is clear evidence of openness and commitment towards ground-breaking research and future development in ataxias.  Press release      Interesting, right? Share with your friends & followers / Intéressant, …

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Care4Rare Year 3 – progress report

In News Archives by ARSACS

Care4Rare is a research project to identify therapeutic leads for rare diseases such as ARSACS. The Foundation is financing the ARSACS portion under the leadership of Dr. Kym Boycott and Dr. Alex MacKenzie from the Children Hospital of Eastern Ontario.  Year 3 Progress Report     Interesting, right? Share with your friends & followers / Intéressant, non? Partagez avec vos …

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ARSACS case reported from South India

In News Archives by ARSACS

A group of researchers in South India under the leadership of Dr. M Suraj Menon Department of Neurology, Government TD Medical College, Alappuzha India have reported an ARSACS case from South India. See article.     Interesting, right? Share with your friends & followers / Intéressant, non? Partagez avec vos amis:

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Publication by Dr. Erceg on hiPSC

In News Archives by ARSACS

Dr. Salven Erceg  from Spain has published an article  in the Neuroscientist on the human induced pluripotent stem cells (hiPSC). This  article  is an outcome of the research  financed by the ARSACS Foundation.     Read more Interesting, right? Share with your friends & followers / Intéressant, non? Partagez avec vos amis:

“Analyzing the influence of ARSACS mutations on the function of human neurons derived from induced pluripotent stem cells.” – Dr. Peter McPherson and Dr. Edward Fon

In News Archives by ARSACS

The researchers will use genome editing of hiPSCs to test the hypothesis that point mutations in the SACS gene lead to alterations in mitochondrial function and neurofilament organization in neurons derived from ARSACS patients. Specific aim 1: Generate genome-edited neurons from fibroblasts of ARSACS patients. Specific aim 2: Examine the influence of sacsin mutations on the cell biological properties of …

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Dr. Mckinney and Dr. Watt’s research progress report

In News Archives by ARSACS

“Physiological characterization of functional deficits and potential therapeutic targets in ARSACS mice.”-Progress report of Dr. McKinney and Dr. Watt’s research project funded by the Foundation.   Read More     Interesting, right? Share with your friends & followers / Intéressant, non? Partagez avec vos amis:

“Caractérisation des déficiences, limitations d’activités et restrictions de participation ainsi que de leurs interrelations chez les personnes atteintes d’ataxie Charlevoix-Saguenay (ARSACS)”- Dr Luc Hébert

In News Archives by ARSACS

Description à venir   Durée: un an Bourse : $98,000 Contact: Dr.Luc Hébert , Chercheur, CIRRIS, Bureau H-1702 . IRDPQ, 525 boulevard Hamel, Québec QC  G1M 2S8 Téléphone: 418-529-9141 poste 6579  Courriel :  lucj.hebert@fmed.ulaval.ca; ljhebert@videotron.ca Interesting, right? Share with your friends & followers / Intéressant, non? Partagez avec vos amis:

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“The Role of Sacsin in Autophagy Offers Novel Therapeutic Opportunities”- Dr. Federica Morani

In News Archives by ARSACS

  The specific aims of the research project are the following: To investigate the role of sacsin in autophagy we will propose to answer the following questions: 1. Is autophagy defective in sacsin KD (knockdown) cells, such as SH-SY5Y or ARSACS skin fibroblasts? If yes, where is the stop in the autophagy process and how the autophagy flux operates? 2. …