Dr. Jair Tenorio-Castaño

Molecular Geneticist at Hospital Universitario La Paz, CSO at ADNTRO GENETICS, CSO at BITGENETIC, and Associate Professor at Universidad CEU San Pablo, Universidad Europea, and Universidad Camilo José Cela. He holds a degree in Biology from the Autonomous University of Madrid, a Master’s in Pharmacological Research, and a PhD in Molecular Biosciences. He was an Associate Professor at Stanford University School of Medicine (USA). He currently works at the Institute of Medical and Molecular Genetics (INGEMM) at Hospital Universitario La Paz and is an Associate Professor at the Faculty of Medicine of Universidad CEU San Pablo, as well as at Universidad Europea and Universidad Camilo José Cela.

He is currently Head of the Neurogenetics, Genodermatoses, and Pulmonary Hypertension sections at INGEMM. He is involved in more than 15 national and international projects, broadly focused on studying the molecular basis of rare diseases. As a result of his research work, he has authored more than 90 publications in leading national and international journals, delivered over 100 presentations and communications at national and international conferences, and contributed chapters to several books.

He is part of the expert committee for the innovative public procurement project of the Community of Madrid, a member of the pulmonary hypertension expert panel of the ClinGen consortium, and a member of the PAH-ICON working group of international experts in pulmonary hypertension. In addition, he is part of CIBERER and the European Reference Network for intellectual disability (ERN-ITHACA).

Recent publications

• Enhancing Type 1 Diabetes Polygenic Risk Prediction through Neural Networks and Entropy-Derived Insights
• N-terminal truncating variants in CACNB1 cause a new congenital muscular disorder
• Next-Generation Sequencing Defines a Molecularly Confirmed ARPKD Core Within the Broader PKHD1-Associated Disease Spectrum
• A New Patient With SPOUT1-Related Neurodevelopmental Disorder Identified by Genomic Data Re-Analysis: Novel Phenotypic Features and Literature Review
• Correction: Case Report: Autosomal recessive palmoplantar keratoderma with additional bilateral hearing loss due to a pathogenic frameshift deletion in FAM83G
• Chromosomal Rearrangements Identified in Three Additional Patients With Generalized Congenital Hypertrichosis With Gingival Hyperplasia Involving the 17q24.2-q24.3 Locus
• Expanding the genetic burden of low-evidence genes in pulmonary arterial hypertension

Interviews and Presentations

• 1st International Forum on Research in Pulmonary Hypertension FCHP 2018 – JAIR TENORIO
• Tenorio syndrome: a newly identified disease with 21 known patients
• RECORDAMOS EL XI ANIVERSARIO DE LA FUNDACIÓN CONTRA LA HIPERTENSIÓN PULMONAR