The opening speech for the event ‘Challenges of Rare Diseases’ on February 29 at the former Santo Domingo de La Laguna convent will be delivered by Dr. Felicitas Díaz-Flores Estévez. The deputy director of the Canary Islands University Hospital (HUC), a doctor in Medicine and Surgery, a specialist in Clinical Biochemistry, an expert in Medical Genetics, and the head of the HUC Genetics Unit, emphasises the importance of such events in raising awareness about minority diseases and the challenges faced by patients and their families. She highlights the significance of timely diagnosis and access to treatment.
“Often, awareness about rare diseases only arises when someone in your circle is affected by one, but it shouldn’t be so. Events like these are crucial in raising awareness among a wider audience. We must listen. There exist ultra-rare diseases, and one might mistakenly perceive them as less significant, which is not true,” she points out.
During her presentation, she will discuss ‘Rare Diseases: Suspicion, Diagnosis, and Genetic Counselling’. She clarifies, “Eighty percent of rare diseases have a genetic basis.” She explains, “Diagnoses are becoming quicker due to advancements in technology. With the sophisticated genetic analysis tools available today, we can provide more accurate answers. The suspicion of a genetic condition is typically raised by a healthcare professional who then refers the patient to genetic specialists, which prolongs the diagnostic process. We aim to complete the diagnosis within six months by conducting detailed genetic analyses tailored to each case. Our technological capabilities and highly skilled team allow us to examine nearly 22,000 genes and provide the desired genetic diagnosis. This entire process has witnessed significant advancements in recent years.”
According to her, “There is a need for more research into the molecular foundations of rare diseases to optimise our diagnostic capabilities.
Post-diagnosis, increased investment in researching therapeutic options for patients is essential. Significant efforts are being made to provide personalised treatments for each of these diseases, but there is still a long way to go. Research teams play a crucial role in this endeavour. Therefore, there must be a commitment to allocate resources to offer these individuals hope.”
Solidarity, inclusion, recognition, value, merit,…. “Rare Diseases, a Constant Challenge” this Thursday, February 29, we are waiting for you at the Ex Convento de Santo at 5:00 p.m., free registration until capacity is exhausted in fes @lalaguna.es pic.twitter.com/UFHOoagV0e
— Economic and Social Forum of La Laguna (FES) (@feslalaguna) February 24, 2024
Addressing this issue, Felicitas Díaz-Flores highlights the necessity for substantial resources to investigate the approximately 8,000 rare diseases and advocates for increased investment by various authorities. She recognises that conducting research is costly.”
Another crucial aspect in discussions about rare diseases is the patient and their family’s ability to come to terms with the diagnosis. In this regard, the doctor notes that “not everyone can comprehend or accept the implications. This often necessitates support. Diseases like dementia or Parkinson’s have devastating consequences for patients, sometimes proving fatal.”Discover the Impacts of Rare Genetic Diseases in the Canary Islands
Many significant figures, such as psychologists, play a crucial role in providing support to patients and their families.”
When asked about the influence of inbreeding and consanguinity in the Canary Islands on the prevalence of certain rare diseases, the doctor highlights that “this phenomenon occurs both here and in various other regions. The likelihood of many diseases increases in closed environments.”
Felicitas Díaz-Flores emphasises the importance of not only focusing on the patients but also on other key figures, such as “their relatives. This issue impacts the entire family, involving parents, siblings, uncles, cousins… all of whom should receive thorough study and guidance. One critical aspect to consider is the reproductive choices available to these patients. Individuals affected by rare genetic disorders aspire for their offspring to be free from the suffering caused by the disease. This is made possible through Preimplantation Genetic Diagnosis.”
The doctor discusses a procedure where genetic analysis is conducted on embryos generated through assisted reproduction, allowing for the transfer of only those free from genetic anomalies associated with specific diseases to the mother’s womb. This technique has already seen successful implementation at the HUC.
Engage in Discussion at the Forum
The Economic and Social Forum of the La Laguna City Council will launch its event programme for 2024 on February 29 with a day dedicated to discussions and analysis focused on rare diseases and the necessity of advancing research in this field.
According to the World Health Organization, approximately 7% of the global population faces the challenge of living with rare diseases. In Spain alone, three million individuals are affected by such conditions, out of a total of 300 million cases worldwide.
Registration for the event is free until all slots are filled and can be completed via email at [email protected]. The event will commence at 5:00 p.m. at the historical convent of Santo Domingo, coinciding with World Rare Disease Day celebrations.
This event is being organised by the Economic and Social Forum of La Laguna, in collaboration with the Spanish Federation of Rare Diseases and the Club Baloncesto Canarias Foundation.
