• 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 […]
A new collaborative study led by Health in Code’s Cardiology Team with the participation of more than 20 national and international centers has been published in the journal Circulation: Genomic and Precision Medicine. The results demonstrate the association of TBX20 with the development of dilated/noncompaction cardiomyopathy; therefore, this gene should be included in the list […]
• The intermediate-effect variant p.Arg637Gln in the FHOD3 gene has been identified to increase the risk of developing hypertrophic cardiomyopathy and is associated with an aggressive phenotype in homozygous carriers. • This conclusion comes from a new study led by Dr. Juan Pablo Ochoa, Medical Director at Health in Code, with Dr. Jesús Piqueras […]
Madrid, November, 8, 2023. OWL Metabolomics and Health in Code, leaders in the omics sciences, have signed a strategic agreement to expand their service offerings in the fields of genomics, proteomics, and metabolomics. This alliance will enable a more comprehensive and innovative approach to meeting the needs of their clients. OWL Metabolomics is a […]
Madrid, October 31, 2023. Personalized medicine leading companies, Massive Bio and Health in Code, have announced a groundbreaking collaboration. This partnership is set to redefine the cancer treatment by merging Massive Bio’s Artificial Intelligence (AI) capabilities with Health in Code’s advanced genomic testing. This collaboration focuses on delivering personalized medicine to cancer patients, which […]
