Explore our latest innovations in Guiding Precision Medicine and download ⇢ key materials right from this page or get to know ⇢ our team on side.
@Booth #348
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| 12.45–13.15 | P08.007.A | Luba Pardo Niemann-Pick disease type C2: genetic, phenotypic and biomarker insights from a cohort of 41 patients P17.043.A | Javier Garcia-Planells Prevention of non-communicable diseases: impact of P/LP variants in ACMG actionable genes in an ethnically diverse population cohort of 102,704 individuals P20.115.A | Mukunth Sadagapan Biallelic pathogenic variants in the DST-b isoform cause autosomal recessive congenital myopathy and highlight the importance of isoform-specific interpretation P20.169.A | Kridsadakorn Chaichoompu Evaluation of Ultima Genomics genome sequencing in rare disease diagnostic settings |
| 16.00–17.00 | P20.158.B | Mandy Radefeldt Pathogenic RNU4-2variants are identified in ~1.7% of exome-negative neurodevelopmental disorder patients enriched for relevant phenotypic features |

| 12:45–13.45 | P03.003.C | Boodor Al-Kawlani Expanding the clinical spectrum of prenatal-onset recessive titinopathy |
| 15:45–16.45 | P20.184.D | Daniel Polla Enhancing variant interpretation in rare diseases: Integrating RNA-seq splicing and expression analysis with DNA-seq based diagnostics using DBS cards |

| 12:45–13.45 | P01.065.E | Moneeb Othman Application of ClinGen CDH1 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines v3.1 for Germline Variant Reclassification: Insights from a Single-Center Cohort. P20.047.E | Martin Shumanov Enhancing rare disease diagnostics by functional assessment of DNA Variants Using RNA sequencing from dried blood spots P20.167.E | Kridsadakorn Chaichoompu Diagnostic potential of Oxford Nanopore sequencing from dried blood spots for complex rare‑disease variants P20.203.E | Lova S Masta Founder Deep Intronic LZTR1 Variant Causing Autosomal Recessive Noonan Syndrome: Genome and RNA Sequencing Findings from a Kuwaiti Familial Cohort |
| 15:45–16.45 | P13.012.F | Florencia Bevilacqua Expanding the Clinical and Molecular Spectrum of SETD2-Related Disorders: Insights from 35 New Patients P20.090.F | Antonio Romito RNA sequencing as a complementary diagnostic tool for the identification and functional evaluation of structural variants P20.114.F | Aida Bertoli-Avella 15:45–16.15 – Lightning Talks Stage 1 Challenging Dominance: Evidence for Biallelic Disease in Traditionally Autosomal Dominant Genes |
Meet Our Sales Team @Booth #348

Victor Llinares
Chief Commercial Officer

Ana Esteban
VP Marketing & Customer Experience

Mar Lozano
Marketing Coordinator

Luis Aznar
VP Sales South Europe

Giovanni Zifarelli
Senior Director Business Development

Damaso Mazuelos
Head of Sales Iberia

Martin Shumanov
Head of Sales Northern Europe

Rifat Cenk Misirlioglu
Head of Sales East Mediterranean Europe

Miltiadis Sofianopoulos
Regional Manager Greece & Cyprus

Tanya Slavova
Regional Manager Eastern Europe

Marcin Kaleba
Regional Manager Eastern Europe Central North

Arianda Abazi
Regional Manager Nordics

Agua Sobrino
Regional Manager UK and Ireland
Meet Our Scientific Team @Booth #348

Peter Bauer
Chief Medical and Genomic Officer

Krishna Kumar Kandaswamy
Chief Technology Officer

Jorge Pinto-Basto
VP Medical Genetics

Javier Garcia Planells
VP Medical Affairs and Product Development

Christian Beetz
Senior Director Genomic Innovation

Lia Abbasi Moheb
Senior Director of Diagnostic Department

Aida Bertoli-Avella
Director of Medical Genetics & Genomic Research

Eleni Perraki
Senior Product Manager

Alejandra Reyes
Head of Medical Evaluation

Lova Satyanarayana Matsa
Clinical Genetic Liaison & Lab Director UAE / Sales Manager

Antonio Romito
Senior Scientist

Mandy Radefeldt
Senior Scientist Data Insights

Boodor Al-Kawlani
Supervisor Clinical Reporting

Emir Zonic
Senior Classification & Curation Scientist

Moneeb Othman
Supervisor Clinical Reporting

Daniel Polla
Supervisor Clinical Reporting

Nayla León Carlos
Human Geneticist

Florencia Bevilacqua
Medical Expert

Kridsadakorn Chaichoompu
Senior Bioinformatician

Mukunth Sadagapan
IT Project Manager
Comprehensive Genetic Testing Across the Cancer Care Management