…TIMESLOT: Wednesday 23 October 2024 – 16:00 – 17:00 CEST
…THEME: EURO-NMD Patient Webinar Series: Gene Therapy
…PRESENTERS: Olga Germanenko (SMA Europe) & Prof. Dr. Annemieke Aartsma-Rus (Leiden University Medical Center – LUMC, the Netherlands)
Olga Germanenko is a patient advocate from Russia. She is the founder and current President of the Russian SMA Family Foundation and Vice President of SMA Europe. Her relationship with neuromuscular disorders is personal. She is the mother of a 15-year-old daughter living with spinal muscular atrophy Type 1.
SMA Europe is a non-profit umbrella organisation of spinal muscular atrophy (SMA) that unites 29 patient organisations from 27 countries. SMA Europe aims to bring effective treatments and optimal care to everyone living with SMA. Among other tasks at SMA Europe Olga has been part of the patient advisory board dedicated to gene therapy for many years.
SMA Family Foundation Russia is a national non-profit patient organisation that unites more than 1450 families living with SMA across the country. SMAFF provides patient support services, educational activities, and advocacy initiatives while working hard to improve care in SMA while collaborating with different and relevant stakeholders.
Olga is also a member of the TREAT-NMD Education Committee.
Prof. Dr. Annemieke Aartsma-Rus is a professor of Translational Genetics at the Department of Human Genetics of the Leiden University Medical Center (LUMC, the Netherlands). She played an important role in the development of antisense mediated exon skipping for Duchenne muscular dystrophy starting with her PhD research. Since 2013 she has a visiting professorship at the John Walton Muscular Dystrophy Research Center of Newcastle University (UK). In 2020 she co-founded the Dutch Center for RNA Therapeutics (DCRT), a non-for-profit academic collaboration aiming to develop clinical treatment with exon skipping therapies for eligible patients with unique mutations. In 2022 she became a board member of the N-of-1 collaborative (N1C), a global umbrella organization aiming to facilitate development of antisense oligonucleotide therapies for patients with very rare, eligible mutations.
Her work currently focuses on developing antisense-mediated exon skipping as a therapy for Duchenne muscular dystrophy and rare brain diseases. This involves work in cell and animal models to improve efficiency of exon skipping, studies in muscle pathology, studying the basics of pre-mRNA splicing and transcript processing and the generation and detailed analysis of mouse models. Finally, she aims to bridge the gap between stakeholders (patients, academics, regulators and industry) involved in drug development for rare diseases and to develop exon skipping therapies for patients with unique mutations.
She has published over 250 peer-reviewed papers, 11 book chapters and 15 patents. She has given many invited lectures at scientific conferences and patient organization meetings, where she is known for her ability to present science in a clear and understandable way. She created and maintains an overview of different therapeutic approaches for Duchenne on the TREAT-NMD website (https://www.treat-nmd.org/resources-and-support/research-overview/dmd/).