The study, published in the journal Nature Communications, provides new insights for people affected by blood cell production issues
The University of Murcia (UMU) and the Murcia Biosanitary Institute (IMIB) have achieved outstanding results in the research of two rare and potentially fatal genetic diseases: dyskeratosis congenita and congenital neutropenia . They developed aptamers—DNA or RNA sequences that can take different forms and act in a similar way to antibodies, like darts with a high ability to bind to specific cellular components—that activate the blood cells involved in the first process. form. Immune system response. The results of this revolutionary research offer huge hope to people affected by these diseases.
Dyskeratosis congenita is an extremely rare disease, affecting approximately one in every million people. Symptoms are abnormalities in the nails, skin and mucous membranes, but they can lead to a significantly increased risk of serious medical problems, such as bone marrow failure and cancer, which are necessary to fight infection.
Congenital neutropenia is a heterogeneous group of disorders that affects a larger number of people, with an incidence of three to eight cases per million. Patients with severe congenital neutropenia are particularly susceptible to recurrent, potentially life-threatening infections, ranging from otitis media, gingivitis, and pneumonia. This disease burden remains with the individual, severely affecting their and their family’s quality of life, thus requiring early diagnosis and specialized medical care.
intolerance to treatment
Treatments for these rare diseases can greatly improve patients’ quality of life. For congenital neutropenia, the primary treatment is daily administration of G-CSF to reduce the frequency and severity of infections. However, approximately 10% of patients do not respond to this therapy and continue to be at higher risk for serious bacterial infections. “Recurrent fevers in children can have a serious impact on the overall quality of life of patients and their caregivers, negatively impacting school attendance or daily activities, and can cause deep frustration for families,” UMU researcher Victoriano Mulero (Victoriano Mulero) explained. Méndez and Francisca Alcaraz-Pérez, IMIB.
However, the UMU-IMIB research team has succeeded in turning aptamers into possible solutions for these rare and complex diseases: “Our team has been working tirelessly to develop new therapies for patients with dyskeratosis, congenital or congenital neutrophils Patients with neutropenia look for innovative solutions. Aptamers represent highly specific approaches that could revolutionize the treatment of neutropenia,” says biologist María Luisa Cayuela Fuentes, lead researcher on the study .
The study’s lead author is Dr. Elena Martínez Balsalobre, and although the research is still in its early stages, the results offer great hope for patients and their families. Next steps include further refining the aptamer-based therapy and conducting clinical trials to assess its safety and efficacy in humans. This exciting study highlights the urgent need to develop new treatments beyond palliative care to treat these diseases. Expert medical care, access to effective treatments and continued research are critical to improving the quality of life of these patients and the prospects of fighting these rare diseases.