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 […]
Our Immunology team has published a new paper in the Journal of Clinical Immunology in collaboration with San Carlos Clinical Hospital in Madrid. The study revealed that immunodeficiencies developed by many lymphoid malignancy patients are not secondary or acquired within the context of the disease, but are caused by inborn errors of immunity. Madrid, […]
Our Immunology Team has presented their work in collaboration with San Carlos Clinical Hospital, in which they reported the finding of a new phenotype potentially associated with monoallelic mutations in the CTC1 gene. Madrid, October 23, 2024. The CTC1 gene takes part in the telomere maintenance process; thus, its deficiency, similarly to […]
A new study published in the Journal of Clinical Oncology has concluded that patients classified as Low Risk by the MammaPrint genomic platform benefit from adding extended endocrine therapy to their treatment regimens, unlike those classified as UltraLow and High Risk. MammaPrint is the most comprehensive standalone genomic test that enables short- and long-term treatment […]
• A groundbreaking study in Spain has analyzed the potential genetic causes of idiopathic (i.e. of unknown origin) chronic kidney disease. • More than 60,000 people are on dialysis or have undergone kidney transplantation in Spain, and one in five does not know the cause of their disease. Madrid, August 22, 2024. […]
Homologous recombination deficiency (HRD) is the loss of one of the DNA repair systems on which our cells rely. Its study, together with testing for mutations in the BRCA gene, is recommended by the main guidelines to prescribe therapies targeting these molecular alterations, which constitutes a milestone in the treatment of ovarian cancer. […]
• Most individuals under 60 with implanted pacemakers do not have a diagnosis that explains the cause of their disease. • Around 15% of these patients have a direct genetic cause that would explain the need for pacemaker implantation, and an additional 30% have alterations in relevant genes. • Genetic studies help diagnose […]
• Approximately 50% of patients with rare genetic diseases currently cannot receive a definitive genetic diagnosis due to technological limitations. • Long-read genetic sequencing technologies allow analyzing complex genomic regions that may contain previously undetected variants. July 23, 2024 In recent decades, the clinical community has focused on the study of […]
Metabolic dysfunction-associated steatohepatitis (MASH), formerly known as NASH, is characterized by fat storage in the liver, leading to inflammation and cellular damage. Patients suffering from it are at risk of progression to cyrrhosis, liver failure, or liver cancer. It is the most severe form of metabolic dysfunction-associated liver disease and shows a variable response to […]
The leading company in genetic diagnostics Health in Code is to bring in the first Revio™ machine in Spain, which will enable large-scale high-precision (HiFi) long reads to improve detection of variants in complex regions. This technology provides a more comprehensive view of human genomes, which could be a game changer for patients lacking a […]
