Dienstag, 18.06.2019 15:50 Uhr

Rare diseases, the letter of little Nicolò moves the Web

Verantwortlicher Autor: Giorgio Esposito EN, 17.03.2019, 17:42 Uhr
Presse-Ressort von: GIORGIO ESPOSITO Bericht 5237x gelesen
Hereditary spastic paraparesis
Hereditary spastic paraparesis  Bild: Giorgio Esposito

EN [ENA] Fundraising for a "research and experimentation project for hereditary spastic paraparesis" starts on social networks. The fundamental opinion of dr. Filippo Maria Santorelli researcher at the Institute of admission and care of a scientific nature Stella Maris Foundation in Pisa.

Hello everyone, my name is Nicolò, I live in the beautiful Puglia and I am a 6 year old disabled child with spastic inherited paraparesis with mutation of the spg gene 56. Unfortunately, due to this disease I cannot walk and I cannot run and play with other children. I use a wheelchair to move. My friend, a doctor from the Research Institute of the Stella Maris Foundation in Pisa, wanted to create a research and experimentation project using the CRISPR / Cas9 technique (gene therapy) that will give me new hope in standing up and being able to play like the others children. https://www.facebook.com/donate/1250070971784458/. Many thanks to those who want to participate in this important cause. Hello from Nicolò

In this case, the words of dr. Filippo Maria Santorelli is a researcher at the IRCCS Stella Maris Foundation in Pisa: "Little Nicolò is suffering from a motor development disease that prevents him from running, walking, playing with other children and that in the long run greatly limits his autonomy of relational life and the development of the nervous system: his illness is called family spastic paraparesis type 56 (SPG56) .There are many such SPG forms, over 80, and for each the rarity arises from the limited number of individual cases, of possible therapeutic interventions, Nicolò is followed at the IRCCS Stella Maris Foundation in Calambrone-Pisa, a highly qualified center for the genetics of diseases of the nervous system central.

The IRCCS (ie the Institutes of Excellence of the Ministry of Health), research and assistance march side by side at the IRCCS Stella Maris Foundation. The development of a new research project to define disease models (small zebrafish animals, model cells) where to replicate the same genetic alteration that occurred in the child is the first step to understand more what 'went wrong' in the program of neuro-development and to intervene with targeted therapies both for Nicolò and for children who like him have the same difficulties because of the SPG genes ".

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