Precision medicine far exceeds the scope of the disease, since its aim is not only to provide individualized treatments and diagnoses, but also to prevent illness and promote health. The aim of this project is to make a dissemination exercise on targeted therapies, gene and cell therapies; a documentary in which to communicate how technology and innovation are put at the service of human beings to improve their quality of life.

These lives have names and surnames, and are represented by three families in which some of its members have successfully overcome a specialized treatment. Through their lives, their environment and their future prospects, the viewer will better understand both the disease and the fundamental role that precision medicine has played in their recovery.

The audiovisual work alternates direct testimonies from the environment of the three protagonist families with the voices of experts in the fields of medicine, science and research. Their testimonies are complementary, since while the close environment tells us about their evolution and personal perception, the doctors and researchers contextualize the development of the disease: detection, treatment and subsequent improvement.

JOSÉ MARÍA

José María is a child born with trisomy 21, a genetic condition also known as Down syndrome. In May 2016 he is diagnosed with acute lymphoblastic leukemia, a potentially fatal type of cancer that affects the blood and bone marrow. A year later, and in the midst of chemotherapy maintenance, an early relapse occurs, posing a fateful scenario with only two possibilities: marrow transplant or palliative care.

The same year 2017, with the purpose of finding a donor for her son while raising awareness about the rights of people with disabilities, Teresa turns to social networks. After a great reception, they manage to find multiple donors who are one hundred percent compatible. However, at the same time, José María developed resistance to chemotherapy, which made any transplant option impossible. 

In this context, when the family seemed to have exhausted all their options, they were informed of a new possibility: an innovative CAR-T cell clinical trial in Barcelona that was obtaining very encouraging results. José María thus became the first Down's Syndrome child in Europe to receive this type of treatment. An individualized therapy that reprograms the patient's own immune system so that it gains the ability to recognize and fight cancer cells.

NOA

Noa is a girl born with hereditary retinal dystrophy, a degenerative disease that causes progressive and severe vision loss. When she was just 6 months old, Noa's parents were informed that their daughter suffered from a rare disease, for which no cure or treatment was available at the time. 

In 2021, Noa underwent a revolutionary therapy to treat her dystrophy. A procedure consisting of genetically modifying a non-pathological virus, in order to inject a functional copy of the REP65 gene under the retina and thus replace the patient's own mutated or affected gene. This gene is responsible for encoding the protein that allows us to convert the light entering the eye into electrical signals, which are transmitted to the brain and ultimately create the images we see. 

Before the intervention, which was the first of its kind in Spain, Noa only retained 3% of her vision. After undergoing this pioneering gene therapy, not only has the degenerative progression of the disease been halted, but also, against all prognosis, her central and peripheral vision has been significantly improved by up to 10%. 

Today, Noa has been able to abandon Braille permanently and is now able to read texts in medium-sized print, ride a bicycle with her family, and even move around safely and independently in gloomy and dark environments.

ALBERTO

Alberto has dedicated his whole life to music and show business. Apart from his professional vocation, his greatest hobby has been outdoor sports, especially cycling, which he admits he has practiced since he was very young and without being very conscious of the effects that the sun could have on his skin. 

In 2005 he was diagnosed with melanoma on his back, at a time when the therapies against this type of skin cancer were very limited, based mainly on early excision and enlargement of margins. The disease manifested itself again years later, both in 2010 and 2013, with the great fortune of not having metastasized in either case.

Early diagnosis is crucial for survival in the face of such a serious disease. Alberto acknowledges that he has been surprised to see how, in just a decade, new technologies and science have made an exponential leap forward. Melanoma detection used to be carried out with a manual dermatoscope, whereas now the whole process is digital, allowing a more precise diagnosis to be made using microscope images. Current technology allows 3D reconstruction of body maps, with high-resolution images, which facilitates the diagnosis of melanoma without the need for biopsies. The future of research and innovation, in the service of precision medicine, involves using more and better knowledge or techniques: artificial intelligence, the internet of things, as well as big data.

Alberto is currently out of risk, although he continues to rely on modern technology for routine dermatological check-ups. However, his fight against melanoma continues, in honor of those colleagues and friends who, less fortunately, he lost along the way. For that reason, in 2012 he founded the first Association of People Affected by Melanoma in Spain to support, inform and raise awareness of this disease in society.