María Lachgar Ruiz
Translational Scientist @Great Ormond Street Hospital for Children NHS Foundation Trust
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WORK HISTORY
Translational Scientist @Great Ormond Street Hospital for Children NHS Foundation Trust
Provide expertise in molecular genetics for the delivery of a high-quality research and development program that ultimately contributes to the diagnostic service- Oversee technical aspects of new services as they translate into clinical service, working closely with Bioinformatics and Clinical Scientists team- Collaborate with teams to develop and implement effective NGS services, including applications like prenatal WES, rapid WGS, NIPD and other cell-free DNA projects- Lead the development and application of NGS technologies, in particular exploring the use of long-read sequencing to improve the diagnosis of unsolved WGS cases- Facilitate translation of research projects into clinical diagnostic services through collaboration with academic and clinical partners.
EDUCATION
Universidad Complutense de Madrid
Doctor of Philosophy - PhD, Biochemistry, Molecular Biology and Biomedicine
Universidad Carlos III de Madrid
Master in Biomedical Technologies Management and Development
Universidad Autónoma de Madrid
Degree in Biochemistry
Escuela Nacional de Sanidad (ISCIII)
Master in Bioinformatics Applied to Personalized Medicine and Health.
ABOUT MARÍA LACHGAR RUIZ
I am a Translational Scientist at Great Ormond Street Hospital, working on genomics projects that bridge research, clinical implementation, and healthcare innovation to improve outcomes for patients with rare diseases.With over seven years of experience in rare disease genetics, particularly epilepsy and hearing loss, I combine deep scientific expertise with project leadership and cross-functional collaboration. I currently coordinate the genomics component of GeneSTEPS, an international project implementing rapid whole-genome sequencing across four clinical sites, and lead multiple research initiatives within the Genomics England Research Environment.I\'m passionate about translating cutting-edge genomics into clinical impact, whether through diagnostic innovation, strategic partnerships, or stakeholder engagement. My interests span scientific strategy, medical affairs, project management, and the application of genomics and AI in precision medicine.I thrive at the interface of science, clinical care, and innovation, building relationships with diverse stakeholders and driving projects that create meaningful value for patients.
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