# Yulia Clark Feoktistova National Award for Innovation of Economic Impact Rationalizers

**Date:** 09/09/2022

Yulia Clark Feoktistova is passionate about genetics. Since her youth she has dedicated herself body and soul to research in that field, in direct connection with the National Center for Medical Genetics, the Institute of Gastroenterology and the International Center for Neurological Restoration.

Throughout her extensive career as a scientist she has approached all types of conditions: hemophilia, sickle cell disease, cystic fibrosis... however, the one that has most captured her interest, to the point of devoting ten years of her life to it, has been Wilson's Disease.

The also Doctor of Biological Sciences was awarded in 2021 the National Award for Innovation of Greatest Economic and Social Impact by the National Association of Innovators and Rationalizers in Cuba, for the generalization of techniques for the diagnosis of that ailment, which is transmitted by autosomal recessive inheritance and is usually fatal before age 50.

With this inventiveness, the prominent intellectual made a substantial contribution to early treatment and the fight against said disease, whose worldwide prevalence is ten to 30 per million inhabitants, and one to 90 its carrier rate, although the presence may be greater in isolated populations.

Wilson's Disease is a hereditary disorder that causes copper accumulation until it reaches excessive levels that debut in liver damage (cirrhosis, subacute or chronic hepatitis), neurological (tremor, coordination difficulties, gait disorders), psychiatric (depression, phobias, personality changes, aggression or emotional instability), repeated miscarriages and other dangerous manifestations.

Currently there is no cure for the condition, but the improvement of techniques to detect it is paramount, in order to achieve early treatments and increase the life expectancy of patients, who, if properly guided, can lead lives similar to any other person. This also prevents irreversible damage to the liver and brain.

Cuba did not have molecular diagnosis of this disease, something decisive for understanding the clinical-genetic aspects and identifying the mutations of the disease. This motivated Clark Feoktistova and an entire team of experts, who bet on the establishment of studies with PCR (Polymerase Chain Reaction), as an innovative and effective method.

"With the optimization of Molecular Biology techniques we replaced old traditional practices that took 12 to 15 days to produce a result. Today that period is two days, and we use less than 80% of the reagents from before.

"Moreover, for Guantánamo it is a strength, because with the introduction of the Molecular Biology Laboratory in the province, this research can be applied to the same local population".

The clinical spectrum of Wilson's Disease is very broad, even within affected families. The age of onset, for example, is highly variable. Some patients remain asymptomatic for decades, in others it can be observed in childhood, after age three, even after age 50, but the majority debut before age 40. In that area, epistemological contributions were also achieved.

The researcher details that, with the novel technology, typical of developed countries, several fragments of the gene affected by that condition were studied, "a complex process, but one that allowed characterization of elements typical of Cuban individuals, the most frequent mutations or changes, even some distinctive to the population of the Greater Antilles.

"That discovery is vital so that, with bioinformatics and other scientific tools, we can predict how each patient's treatment should be, depending on the mutations, and apply, with that wisdom, the so-called personalized medicine, which guarantees precision in the result. Thus we move a step forward as a country in the fight against the disease," Clark said.

Yulia Clark asserts that, if the result has been important for science, its impact on academia is greater, by allowing the training of students and teachers in the benefits of Molecular Biology.

"The training process is fundamental, because by introducing the thesis in the Biology major, of the Faculty of Education, at the University of Guantánamo, students understood how they can solve Health problems with the knowledge of molecular and cellular Biology.

"They were also trained in biotechnology, as one of the strengths that we should all appropriate for ourselves.

"Furthermore, from a preventive standpoint, early detection of the condition is another advantage for the Health system and the patient, because although Wilson's Disease is hereditary, sometimes its symptoms take time to manifest. In those cases, once the diagnosis is known, under medical follow-up and with a diet based on low-copper foods, people can return to normal life and take better care of themselves," she adds.

According to doctor in Sciences Yulia Clark Feoktistova, Wilson's Disease is a rare condition, whose prevalence in the Cuban population is pending study, although it is estimated to exist in one of every 30,000 or 35,000 Cubans. According to database records, approximately 200 patients are registered.

"Although several theses have been done on this matter, there is much more to investigate and it will be done –Clark Feoktistova affirms–, as it is the interest of the Ministry of Public Health, and the mission of the National Center for Medical Genetics, created by Fidel for the diagnosis of genetic diseases that affect Cuba".