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El genetic diagnosis of minority diseases and personalized medicine is in continuous growth and for this reason a constant update is needed on this subject, while a continuous interaction between the different professionals involved is essential to ensure that genetic diagnosis and treatment reach patients in an equitable manner.
Along these lines, the day vol improve the competence of professionals in the management of genetic diagnosis through updates on topics related to the diagnosis and treatment of some genetic-based minority diseases, as well as sensitizing professionals to the importance of know and use correctly the diagnostic tests and the different therapeutic options.
Program:
- 08: 30 - 09: 00 h Delivery of documentation
- 09: 00 - 09: 15 h Welcome and presentation of the day.
- Anna Aran Solé. Director General of the Parc Taulí Health Corporation (CSPT)
- Salvador Ventura Director Parc Taulí Research and Innovation Institute (I3PT)
- Víctor Martínez-Glez. Center for Genomic Medicine of the Parc Taulí Health Corporation (CSPT)
- 09:15 -09:45 h Inaugural conference: Personalized Medicine
- Gemma Valletta Manager of Personalized and Precision Medicine at CatSalut
- 09:45 -10:45 h Taulí I: Genomic Medicine
- 09:45 – 10:05 h New perspectives in the management of Prader Willi Syndrome. Raquel Corripio. Parc Taulí Health Corporation
- 10:05 a.m. – 10:25 a.m. Epigenetics. Pseudohypoparathyroidism and Albright hereditary osteodystrophy. GuiomarPérez de Nanclares. Araba-Txagorritxu University Hospital
- 10:25 a.m. – 10:45 a.m. Vascular malformations, mesomatic mosaics and precision medicine. Víctor Martínez-Glez. Center for Genomic Medicine. CSPT
- 10:45 – 11:15 a.m. Break – Coffee
- 11:15 -13:15 h Taulí II: Hospital projects
- Multicenter approach to improve the identification and management of patients with constitutional mismatch repair deficiency (CMMRD) in Spain. Marta Pineda ICO
- The role of genetics in the assessment of male reproductive health. Meritxell Jodar Clinical Hospital of Barcelona
- ADTKD-MUC1: a hereditary nephropathy of complex genetic diagnosis. Marcus Pybus Puigvert Foundation
- RNU4-2 as a novel clinically recognizable syndrome: comprehensive phenotyping of 11 individuals. Irene Valenzuela and Marta Codina. Vall Hebron University Hospital
- Approach to the molecular diagnosis of hereditary retinal dystrophy. Anna Esteve Bellvitge University Hospital
- Population screening of carriers for the prevention of recessive genetic disorders through preconception genomic medicine. Jordi Surrallés. University Hospital of Santa Creu and Sant Pau
- Genetic variants in LZTR1: phenotypic overlap, incomplete penetrance or genetic susceptibility. Elizabeth Castellanos. Germans Trias i Pujol University Hospital
- Únicas SJD Project: precision medicine platform to transform the diagnosis and treatment of patients with minority diseases. Tony Martinez Sant Joan de Déu University Hospital
- 13:15 -13:45 h Taulí III: Interactive case session (Kahoot)
- 13:45 -14:15 h Taulí IV: Episignature. Bekim Sadikovic. Western University, London, Canada
- 14:15 – 14:30 h Thybridization technologies and impact of probe design in genetic studies. Diana Cantero Scientific & Applications Support Manager at Sysmex.
- 14:30 -14:35 h Closing day
Addressed to:
- Professionals in the field of genetics who usually have a relationship with the diagnosis of genetically based diseases
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