Gene Therapy To Fight Rare Diseases

More than half of the rare disease cases manifest themselves in children under two years of age, and more than 90% of affected patients do not have specific treatments. But can a solution be found to deal with this type of ailments? Of course, and the answer is in gene therapy.

Gene Therapy

What Is Gene Therapy?

This therapy is a technique that uses genes to treat and prevent diseases, having significant potential for those children who suffer from a rare pathology.

How is this treatment carried out? Doctors insert a gene into the patient’s cells instead of using medications.

The goal of this treatment is to replace and deactivate the mutated gene that causes the condition with the modified gene.

Last Friday Krystof Bankiewicz, neurologist and world leader in gene therapy, was present at the conference held last Friday in the Telephone District, where he explained the great importance of this therapy to combat rare diseases.

Krystof Bankiewicz pointed out that gene therapy is the most accurate way to treat neurological diseases such as Parkinson’s or Alzheimer’s. In addition, it can be of great help to treat rare diseases such as AADC or also known as childhood Parkinson.

Javier García, one of the founding partners of the Columbus Foundation, explained that the purpose of the foundation is to make this therapy accessible and provide all possible assistance to families.

Children’s Parkinson or AADC

The AADC (aromatic amino acid deficiency decarboxylase) is a genetically inherited neurological disorder that affects the ability of the brain to secrete neurotransmitters such as dopamine and serotonin.

genetherapy research

Due to the absence of these substances, the brain is “disconnected” from the body and therefore can not do simple tasks such as moving, picking up objects or talking.

It is an ultra-rare disease because there are only 130 cases in the world.

The use of gene therapy for this neurological problem has shown incredible results, the results of the treatment being noticeable at six months, and thus improving the daily life of those children suffering from this deficiency.

There are currently more than eight children receiving this treatment in Europe, and the proposed goal for 2020 is to treat three children each month.

Marta’s trip

The first known case in Spain of this disease was that of Iran. A four-year-old girl, and was the first Spanish patient to perform this treatment, and six months later she could keep her head up, pick up objects and her evolution is positive.

Currently, there is the case of Marta, a four-year-old girl who suffers from Niemann Pick C disease, a neurodegenerative disorder that can be treated thanks to gene therapy.

Marta’s case reached the Digital Transformation Department of Telefónica. The team told the story to the entire company, which finally embarked on this initiative called Marta’s trip to improve Marta’s life and so many other children fighting against this type of illness.

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