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Inherited metabolic diseases through omics lenses

Abdellah Tebani, PharmD, PhD
Associate Professor , Rouen University Hospital
Prof. Soumeya Bekri
Head of Metabolic Biochemistry Department, Rouen University Hospital

Category:
Genetics PGS / PGT-A

inherited-metabolic-diseases
From this video you will find out:
  • What is metabolism?
  • How does a network of metabolic reactions work?
  • What is an inherited metabolic disease?
  • How many inherited metabolic diseases are there?
  • How to diagnose inherited metabolic diseases?
  • What a “multi-omics” approach mean? What genomics, transcriptomics, and proteomics really mean, and how does it work?
  • Can inherited metabolic disorders cause maternal and fetal complications in pregnancy?
  • Which genetic disorder is an inborn error of metabolism (IEM)?

Genetics and genomics of inherited metabolic diseases

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Authors
Prof. Soumeya Bekri

Prof. Soumeya Bekri

Prof. Soumeya Bekri is the head of the Metabolic Biochemistry Department at Rouen University Hospital and Chair of Medical Biochemistry and Molecular Biology at Rouen Medical School, France. She has over three decades of medical practice as a clinical biochemist, geneticist, researcher and educator. She is an international expert in inborn errors of the metabolism field, particularly in Lysosomal Disorders. Her research involves translational studies taking basic molecular genetics research and developing direct clinical applications. Her work in LDs has involved the development of protocols, basic and translational molecular research. She works on expanding biomarker screening using omics-based technologies (mass spectrometry and NGS) for inherited metabolic diseases and on refining methods of clinical interpretation using machine learning-based expert tools to diagnose, treat and monitor diseases in the post-genomic era. Her current research projects involve the implementation of innovative multi-omics and new systems medicine-based approaches for the management of IEM.
Abdellah Tebani, PharmD, PhD

Abdellah Tebani, PharmD, PhD

Abdellah Tebani, PharmD, PhD is an Associate Professor at Rouen Medical School and works as a clinical chemist in Metabolic Biochemistry Department at Rouen University Hospital headed by Prof. Soumeya BEKRI. He is trained as a clinical chemist with a fellowship in Inborn Errors of Metabolism. He is an expert in the field of laboratory medicine and diagnostics with track records in Inborn Errors of Metabolism using systems and computational medicine. He has contributed to the creation of the Human Blood Atlas and the Human Secretome within the Swedish Human Protein Atlas. He has extensive experience in generating and handling large-scale omics profiling and biomedical data. He has developed and implemented high-throughput clinical-grade investigations using machine learning techniques and omics-based technologies. As a professor at Rouen Medical School, he’s actively involved in education, outreach, and teaching laboratory medicine and clinical biology. Combining his medical background and data analytics passion, he’s focused on designing and delivering medical training in the ever-changing technology landscape. Dr Abdellah Tebani is passionate about innovations at the intersection of laboratory medicine, artificial intelligence, digital health and defines himself as a Precision Medicine enthusiast.
Event Moderator
Caroline Kulczycka

Caroline Kulczycka

Caroline Kulczycka is managing MyIVFAnswers.com and has been hosting IVFWEBINARS dedicated to patients struggling with infertility since 2020. She's highly motivated and believes that educating patients so that they can make informed decisions is essential in their IVF journey. In the past, she has been working as an International Patient Coordinator, where she was helping and directing patients on their right path. She also worked in the tourism industry, and dealt with international customers on a daily basis, including working abroad. In her free time, you’ll find her travelling, biking, learning new things, or spending time outdoors.
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