Madrid, December 30, 2024.
Health in Code’s R+D team has developed a groundbreaking method for the genetic diagnosis of hereditary alpha tryptasemia. This advance constitutes a milestone in the molecular diagnosis of this genetic disease caused by alterations in the TPSAB1 gene.
Due to the non-specificity of its symptoms (severe allergic reactions, skin disorders, chronic pain, and fatigue), it is often overlooked or misdiagnosed and treated inadequately.
The project has been coordinated by Lorena Olivares, PhD, in collaboration with José María García-Aznar, Head of Immunology. The Malaga Regional University Hospital has taken part in the clinical validation of this solution by providing patient samples.
An accurate diagnosis provides relevant prognostic information for symptom management and patient follow-up. These aspects are particularly relevant in the case of this disorder because its clinical manifestations can show varying degrees of severity depending on the genetic load present in each individual.
The developed method is based on digital PCR (dPCR) technology and allows detecting this condition accurately and reliably, thus representing a turning point for its clinical management.
- It prevents misdiagnoses and ineffective treatments.
- It allows for personalized clinical treatment, tailored to the user’s needs.
- It expands the possibilities for prevention by assessing risk in relatives.
“We have participated in the clinical validation of this innovative method in a cohort of patients diagnosed with mastocytosis. This process has confirmed its high accuracy in identifying genotypes compatible with hereditary alpha-tryptasemia”, explained Raquel Yahyaoui, MD, PhD, Head of the Clinical Analysis Unit at the Malaga Regional University Hospital.
“This technique provides relevant prognostic information, enabling a more personalized clinical management tailored to the needs of this group of patients. We believe that this breakthrough constitutes a significant step in the application of genetics to the clinical setting and reinforces our commitment to scientific excellence and its positive impact in the improvement of patient health”, concluded Dr Yahyaoui.
This method not only overcomes the limitations of traditional technologies, but also enables the early detection of this condition, thus reducing the risk of severe complications such as anaphylaxis. Moreover, this being a hereditary pathology, our technique also allows assessing risk in relatives, thereby expanding the possibilities for prevention and early follow-up.
Since this disorder follows an autosomal dominant inheritance pattern, there is a 50% probability of recurrence of the disease among the offspring of carriers of pathogenic genotypes; however, the allelic combination can modify disease severity.
This project is the result of a multidisciplinary effort involving our R+D team together with the Immunology Unit and the Genetics Service of the Malaga Regional University Hospital, and it reinforces Health in Code’s commitment with scientific innovation and the application of genetics to healthcare.
With this development, we continue to make a difference in genetic diagnosis and offer solutions that positively impact the lives of patients and the work of healthcare professionals.
