Ignacio Blanco Guillermo

Ignacio Blanco is the coordinator of a CSUR (reference unit) of the Sistema Nacional de Salud and the national coordinator of the European Network of Reference Centers (ERN) GENTURIS, a network for all patients with any of the rare syndromes of genetic predisposition to the development of tumours (GENTURIS). In addition, he is a member of the Advisory Committee on Minority Diseases (CAMM) from the Government of Catalonia and advisor to the Spanish Ministry of Health in the area of Genetics.

Contact: iblanco.germanstrias(ELIMINAR)@gencat.cat
ORCID: 0000-0002-7414-7481

Extended biography (as narrated by Dr Blanco):

In 2009 I enrolled in the Germans Trias i Pujol Research Institute (IGTP) to be in charge of the genetic diagnostics activity of the Hereditary Cancer program. Since 2015, I am the coordinator of genetic diagnosis in the Spanish Reference Center (CSUR) on Phakomatoses. In the last years, our group has been incorporated in the GENTURIS (European Reference Network of rare genetic tumor risk syndromes) and has been recognized as a consolidated group of Neurofibromatosis by Generalitat de Catalunya (SGR2018, SGR2022). In addition, I also participate in the Catalan Health Institute's XIGENICS program, and collaborate closelly with the Institut Català d'Oncologia (ICO), and Dr. Lázaro.

During 2009-2019, I had been developing all my activity of diagnosis, innovation and research within the Hereditary Cancer Group, led by Dr Serra. In 2019, I moved to Hospital Universitary Germans Trias & Pujol (HUGTP) to coordinate the Clinical Genomics Unit, and I was recognized as emerging principal investigator at IGTP. Since then, a translational research activity centered in CSUR patients has been going on. As a result, different works have been published: 1) we used for the first time antisense oligomers as a potential therapeutic strategy for patients with NF2 (PMID: 23188051, 36420221); 2) we deepened in the use of genomic techniques to perform differential diagnosis of Neurofibromatoses (PMID: 25739810) and also to improve the genetic counselling (PMID: 35121649); and 3) we studied the molecular pathogenesis of NF2 skin plaques, useful to establish an early diagnosis (PMID: 29322178, 35490384): amd 4) we have been able to improve the NF2 genetic score published by the UK reference center (Halliday 2017) to predict the prognosis of patients carrying splicing and mosaic variants (PMID: 34348961).

In the area of innovation, I developed, validated and implemented to the routine diagnostics activity, a custom NGS panel of 135 genes of hereditary cancer, the I2HCP (PMID: 28051113) and also to genetically diagnose RASopathies and related syndromes (PMID: 31573083). This development technologically transformed the two genetic diagnosis units where it has been implemented (the HUGTP and ICO), and allowed us to join forces to homogenize the techniques used in other centers, such as the Vall d'Hebron University Hospital, among others.

Currently, more than 8000 patients visited at the ICO or at our center have been genetically diagnosed with this technological development. In addition, I have collaborated in the search of new genes associated to Shcwannomatosis (PMID: 34747535) or new genomic analysis to improve the genetic testing (PMID: 35569879, 32561899, 33983414, 36818284).

Currently, thanks to my experience in genetic testing on Neurofibromatosis and related disorders, I am co-leading togehter wiht Dr. Plotkin (MGH, USA) the ClinGen-NIH International expert panel of variant curation for these group of diseases (NF-SWN VCEP) and also coordinating the international consortium EURONET-NF to improve the molecular testing of this group of disorders.

Finally, in order to generate a non-perishale NF2 cellular model to test the different therapeutics approaches developed in the laboratory, we have generated induced pluripotent cells (iPSC) harboring the germline and the somatic variant (NF2(-/-))(Catasús et al, in revision) as well as we collaborated to generate NF1 iPSC (PMID: 35172160, 30713041).

In the last 5 years, 4 of which as an associate principal investigator at the Germans Trias i Pujol Research Institute (IGTP), I have achieved funding to develop different lines of research and lead the aforementioned consortia through competitive projects at regional, national and international level and from different national and international patient associations for a total value of more than €2,300,000. We participate in the ISCII programs "Data Science Program IMPaCT-Data, call 2021," and "iPHARMGx", call 2022. In addition, I got funding for hire a PhD Student, Núria Catasús, who defended her Thesis on May 2022 and I am on charge of formation on genetics of clinical residents at HUGTP.

We have also disseminated this work and other scientific achievements through news on the research institute's website, scientific dissemination conferences held at our center, as well as regular collaborations with patient associations, mainly the Association of Patients with Neurofibromatosis (AANF) and the Children's Tumour Foundation (CTF) in the conferences they organize.

Elisabeth Castellanos Pérez

Elisabeth Castellanos co-leads together with Scott Plotkin (Massachusetts General Hospital, USA) the Neurofibromatoses and Schwannomatosis Variant Curation Expert Panel (NF-SWN VCEP) at ClinGen-NIH, aimed at establishing clinical guidelines for classifying genetic variants of these diseases. The panel was funded by the National Institutes of Health (NIH) with a U24 grant. Castellanos also coordinates the international consortium EURONET-NF, which has the objective of improving diagnostic molecular testing for this group of disorders. She collaborates closely with Children's Tumor Foundation (CTF) and was invited to serve as a session co-chair at the CTF 2023 NF Conference in Scottsdale, USA, to update on the advances of the NF-SWN VCEP and also to the 2024 NF Global Conference to chair a gene therapy session. In 2023, Castellanos renewed her P-FIS grant and also got a Sara Borrell fellowship for the 2024-2026 period. Finally, she is collaborating with Plotkin to develop new genetic therapies for neurofibromatosis type 2.

Contact: Ecastellanosp.germanstrias(ELIMINAR)@gencat.cat
ORCID: 0000-0002-8133-5325