Fundación Jiménez Díaz's Genetics Service, founded in 1962, was the first hospital Genetics Service in Madrid, and also one of the first in Spain. It currently comprises 30 professionals with clinical (physicians and pharmacists) and basic (biologists and biochemists), postdoctoral and predoctoral training, along with laboratory technicians and administrative staff.

Fundación Jiménez Díaz's Genetics Service combines care, teaching, research and management:

Care Activity: The service currently offers a wide range of services including Genetic Counselling (preconception, reproductive, hereditary and chromosomal diseases and hereditary cancer), Genetic and Preconceptional, Prenatal (invasive and in maternal blood) and Postnatal Diagnosis, as well as Pharmacogenetic and Therapy studies in rare diseases (clinical trials, cellular reprogramming, etc.). The availability of cutting-edge genomics technologies enables the continual expansion and updating of the portfolio of services offered in the field.

Within the Healthcare Area, the service’s most relevant contribution is:

  • Contribute to general knowledge about the pathophysiological basis of human genetic diseases.
  • Help in the study and genetic diagnosis of these pathologies in medical practice.
    • Set up Multidisciplinary Units alongside a range of Services (Ophthalmology, Neuropaediatrics, Neurology, Rehabilitation, Nephrology, etc.) to clinically diagnose and follow up more than 6000 rare diseases.
    • Together with the Obstetrics and Gynaecology Service, form two cross-functional units: the Prenatal Diagnosis Unit, which includes the implementation of both invasive prenatal diagnosis procedures (amniocentesis, chorionic villus sampling, cordocentesis) and non-invasive prenatal diagnosis (using maternal blood), and the Assisted Reproduction Unit, responsible for conducting preimplantation genetic diagnosis.
  • Create platforms to support patient treatment through pharmacogenetic tools or targeted therapies (precision medicine).
  • Analyse the ethical aspects of clinical practice and genetic research.
  • Manage and promote biomedical research in a university hospital.

Teaching Activity: Healthcare is accompanied by an extensive educational offer that includes:

  • Participation in the training programmes of the School of Medicine and the School of Nursing at Universidad Autónoma de Madrid, and participation in various undergraduate and postgraduate courses and master’s degrees.
  • Supervision of undergraduate and master's degree dissertations.
  • Training for undergraduate students and predoctoral researchers (FIS, CIBERER, Conchita Rábago Foundation, Río Hortega contracts, etc.), postdoctoral researchers (CIBERER, Sara Borrell, Juan de la Cierva and others) and laboratory technicians (OPESA).
  • Specialised health training for residents in other specialities in Medicine, Pharmacy, Biology and Chemistry and other biosanitary degrees.

This teaching programme has trained dozens of residents, international fellows and basic researchers who are currently working in different Genetics units or research groups, both nationally and internationally.

Research Activity: Research makes up one of the 27 groups in the field of Genetics and Genomics at Fundación Jiménez Díaz's Health Research Institute, specifically the Genetics and Genomics of Rare and Complex Diseases Group. This is key both for clinical activity (diagnosing and preventing genetic diseases) and for basic research by other groups at the Institute it collaborates with (Cancer, Neurosciences, Paediatrics, etc.).

The team participates in and directs lines of research related to:

  • Pre- and post-natal genetic diagnosis and counselling.
  • Rare diseases of genetic origin.
  • Molecular basis of hereditary sensorineural diseases.
  • Genetic Bases of Neurodevelopmental Disorders.
  • Reproductive and Foetal Medicine.
  • Ocular gene therapy and pharmacogenetics.

In research and training, the FJD's Genetics Service collaborates with basic and clinical groups, both nationally and internationally, making a significant contribution to the study of hereditary pathologies through the discovery of new genes (J Med Genet 2017, Am J Hum Genet 2017, Hum Mol Genet. 2015, Nature Genetics 1993, Nature Genetics 1998, Science 1998, Nature Genetics 2009, Nature Genetics 2010) and disease models (AJHG 2010), to the transfer of knowledge, which is essential in training for clinical specialists and researchers and in disseminating knowledge through patient associations.

With regards to care and management, it helps in the transfer to clinical practice through the development of new therapies (cellular, gene and pharmacological) and comprehensive patient care.

Research into rare diseases has been successfully integrated into clinical practice, resulting in over 6000 pathologies being included in the department's genetic services portfolio (here there should be a link to the "Genetic Services Portfolio" document or the files in section 3), over 70,000 molecular and chromosomal diagnoses being carried out in the last 6 years, and more than 10 clinical guidelines being developed.

Quality control techniques have been developed, maximising the analytical and clinical validity of genetic studies and optimising their cost effectiveness, while ensuring a faster, more efficient translation to medical practice, as in genotyping and pharmacogenetic arrays.

The laboratory is certified by UNE EN ISO 9001. It also takes part as European and Spanish representatives in Quality Control programmes: EMQN, GenQA, AEGH, EUROGENTEST and AEDP.