We are 5 families in 5 different countries, who have incredible children who have the gene mutation CNTNAP1 / CASPR1.
This very rare genetic mutation makes it very difficult for us to get help. Because there are so few people in the world with this disorder, there are very few researchers who have worked with CNTNAP1.
When someone has the CNTNAP1 gene defect, it means that you are missing the
gene to connect the myelin sheild to all the nerve pathways that send all signs from
the brain into the whole body. This makes it extremely difficult for the muscles to
work properly throughout the body.
There are different degrees of severity in CNTNAP1, every gene mutation is different.
The affects and severity of CNTNAP1 vary from child to child. From the research we
have found, the most severe studies had children who had passed away within the
first 7 months of birth.
We would like to share our journies with CNTNAP1. We are five different families with
five different stories. We would like to share all of the knowledge that we have gained
while caring for our children and connect with other families who are also navigating
through this rare genetic disorder.
Our ulitmate goal would be to collect as much data and knowledge as we can so the
researchers hopefully get succes in finding a treatment with gene therapy create hope
for others that have gene errors
contactin-associated protein 1
neurexin IV, neurexin-4
related diseases :Lethal congenital contracture syndrome 7
category under: Charcot-Marie-Tooth disease (CMT) and CHN and CNS
Adeno-associated viral (AAV) vectors are a rapidly emerging gene therapy platform for the treatment of neurological diseases. In preclinical studies, transgenes encoding therapeutic proteins, microRNAs, antibodies or gene-editing machinery have been successfully delivered to the central nervous system with natural or engineered viral capsids via various routes of administration. Importantly, initial clinical studies have demonstrated encouraging safety and efficacy in diseases such as Parkinson disease and spinal muscular atrophy, as well as durability of transgene expression. Here, we discuss key considerations and challenges in the future design and development of therapeutic AAV vectors, highlighting the most promising targets and recent clinical advances.
FIRST GENE THERAPY WINS WORLD`s LARGEST VISIONS AWARD
The Antonio Champalimaud Vision Prize for this year was awarded to seven researchers from the United States and Britain who developed revolutionary gene therapy for a form of inherited childhood blindness, Portugal Champalimaud Foundation announced Tuesday.
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