Lydia Sagath, PhD

Molecular scientist based in Nijmegen, Netherlands. lydia@sagath.com

A medical molecular geneticist specialized in structural variants, repetitive regions and rare neuromuscular disorders. The development and application of new diagnostic methods and uncovering novel mutational mechanisms lie in the center of my work.

Projects

Structural variants in rare unsolved disorders

A SolveRD project

In patients with rare disorders lacking a molecular diagnosis, we apply the latest PacBio long-read sequencing technology and Bionano optical genome mapping to find and characterize causative structural variation. The project is part of the SolveRD effort.

April 2023 - Present

Characterization of YBX3

A putative novel Nemaline myopathy causing gene

Variants in the Y-box binding protein 3 (YBX3) gene have been connected to Nemaline myopathy. To better understand the impact of these variants, we are working on localization and interaction studies of the wild-type protein and the variants. Part of the work was performed collaboration with Stephan Lange's group at the University of California San Diego and is now continued as part of a Masters thesis project.

January 2016 - April 2023

Development of a Digital Droplet PCR based diagnostic method

Reaching the needed resolution in hard to reach regions

Titin and nebulin, two gigantic sarcomeric proteins, both contain segmental duplication regions in their sequences, and harbor both normal and pathogenic copy number variation. These blocks are challenging to analyze by both Comparative Genomic Hybridization array methods - therefore we are developing ddPCR based assays for the analysis of these regions. The method is under validation, and will be subject for a manuscript in the near future.

March 2017 - May 2022

An extended Comparative Genomic Hybridization array for the diagnostics of neuromuscular disorders

To complement the diagnostic methods available

The extended CGH-array design that we developed covers 178 genes related to neuromuscular disorders, covered at a high tileage. The array constitutes a robust method for copy number variant analysis for diagnostics of neuromuscular disorder patients, and also covers the segmental duplication regions of both nebulin and titin.

December 2016 - August 2018

Education

Doctor of Philosophy

University of Helsinki, Faculty of Biological and Environmental Sciences

Doctoral School of Health Sciences, Doctoral Programme of Integrative Life Sciences
Subjects: Biological imaging techniques, statistics and R, university pedagogy. Thesis available online on Helda.

March 2016 - June 2022

Master of Science

University of Helsinki, Faculty of Biological and Environmental Sciences

Major in human genetics, minor in physiology. Thesis available online on Helda.

March 2013 - March 2016

Bachelor of Science

University of Helsinki, Faculty of Biological and Environmental Sciences

Major in genetics, minor in cell and molecular biology

August 2009 - March 2015

Experience

Genomic Technologies & Immuno-Genomics (Hoischen) group, Radboudumc

Post-doctoral researcher, Sigrid Jusélius Fellow

Read more about the group on the group's website.

April 2023 - Present

The Nemaline Myopathy (Wallgren-Pettersson & Pelin) group, Folkhälsan Research Center

Post-doctoral researcher

Read more about the group on the group's website or Folkhälsan's pages.

June 2022 - March 2023

Lange Lab, University of California, San Diego

ASLA-Fulbright pre-doctoral fellow

Read more about the group on the group's website.

October 2019 - March 2020

The Nemaline Myopathy (Wallgren-Pettersson & Pelin) group, Folkhälsan Research Center

Doctoral researcher

Read more about the group on the group's website or Folkhälsan's pages.

December 2015 - June 2022

Diamina Consulting

Entrepreneur

January 2017 - Present

The Reproductive Genetics (Aittomäki) group, Folkhälsan Research Center

Research assistant
June 2015 - September 2015

The Distal Myopathy (Udd) group, Folkhälsan Research Center

Master's student, research assistant
June 2013 - August 2015

Teaching experience

University of Helsinki

  • 2023, Genomics in Healthcare and Environment, Radboud University. Co-responsible for practicals (40 h).
  • 2022 - 2023, Genomes and cytogenetics, University of Helsinki (1 lecture/year).
  • 2021 - 2023, Genomes and cytogenetics, University of Helsinki. Responsible for online practicals (entire course).
  • 2021 - 2022, Lecture course "Genetiikan perusteet", University of Helsinki (2 lectures/year)
  • 2020 - 2022, Lecture course "Genetikens grunder", University of Helsinki (4 lectures/year)
  • 2022, Lecture course "Genetiikan perusteet", University of Helsinki Open University (4 lectures)
  • 2020 - 2022, Practical course "Laboratorio tutuksi" (biochemistry), Institution of Biochemistry, University of Helsinki (30h/year).
  • 2019, Advanced course in genomics and gene regulation, University of Helsinki. Array-CGH practicals (6h).
  • 2019, Genomes and cytogenetics, University of Helsinki. Responsible for online practicals (entire course).
  • 2018, Practical course "Human genetics", Institution of Genetics, University of Helsinki. Practicals (30h).
  • 2017 - 2018, Practical course "Laboratorio tutuksi" (biochemistry), Institution of Biochemistry, University of Helsinki (30h/year).
  • 2016 - 2017, Mammalian Genomics Course, Institution of Genetics, University of Helsinki. Array-CGH practicals (6h/year).
  • 2012 - 2016, Practical course in biochemistry, Institution of Biochemistry and Biotechnology, University of Helsinki. Practicals (30-60h/year).
  • 2012 and 2016, Practical course in microbiology and microbial genetics, Institution of Microbiology, University of Helsinki. Practicals (30h/year).
  • 2013, Practical course in gene technology I, Institution of Genetics, Unviersity of Helsinki. Practicals (25h).
March 2012 - Present

Supervision experience

University of Helsinki

  • 2024 -, Supervision of PhD Candidate Maaike Hoogland (co-supervisor, Radboudumc Graduate School)
  • 2022 - 2023, Supervision of Master's thesis work of Fanny Rostedt (primary supervisor, University of Helsinki).
  • 2021, Supervision of the intership work of a Bachelor student (primary supervisor, University of Helsinki).
  • 2018, Supervision of the intership work of an Erasmus student (co-supervisor, University of Hamburg/University of Helsinki).
  • 2017, Supervision of Master's thesis work of an Erasmus+ student (co-supervisor, University of Palermo).

Positions of trust

January 2011 - present

Society memberships

  • European Society of Human Genetics
  • World Muscle Society
  • Suomen Lääketieteellisen Genetiikan Yhdistys
  • Nederlandse Vereniging voor Humane Genetica

Skills & Interests

Professional skills

My main skills and expertise lie in genomic copy number and structural variation analysis (specifically aCGH, ddPCR, and long-read sequencing). I also have extensive experience in cell culture based functional protein studies, including High Content Screening. To complement my methodological knowledge, I have studied statistics and R to support my data analysis skills and university pedagogy (20 ECTS) to support my teaching and supervision interests. As a side project, I developed the new webpages for my past reseach lab (including HTML, CSS, PHP).

Under my personal Business ID, I have provided translation services to and/or from all the languages listed below since 2017. I mainly provide services for educational and marketing purposes for companies of different sizes. For business enquiries, please contact me per e-mail.

Language skills

  • Swedish, native
  • Finnish, native
  • English, proficient
  • French, proficient

Personal interests

Most of my free time is spent with horses - I have an 11-year-old shetland-cross mare and a Finnish warmblood colt born in 2023. In my free time I also enjoy various forms of art - I enjoy playing music myself and I am a member of the amateur choir It's a Kuoro. I am a fan of all kinds of activities - I acquired my CMAS P1 in Finland in spring 2019 and went on to earn my NAUI Advanced Diver certificate in Hawaii in March 2020, and have been a geocacher since 2012. I have ran the Helsinki City Run half marathon in 2012 and 2022, and am currently set on completing the Nijmegen Four-day March in 2024.

Publications

Original publications

Posters and talks

  • 2024 75th Dutch Society of Human Genetics Conference (Amsterdam, 19-20th September), oral
  • 2024 57th European Society of Human Genetics Conference (Berlin, 1-4th June), oral
  • 2023 56th European Society of Human Genetics Conference (Glasgow, 10-13th June), download poster
  • 2022 27th World Muscle Society Congress (Halifax/Virtual, 12-15th October), download poster
  • 2022 Titin Case Conference (Virtual, 23rd March), oral
  • 2021 Finnish Neuromuscular Club Meeting (Helsinki/Virtual, 3rd December), download slides or download presentation video
  • 2021 26th World Muscle Society Congress (Virtual, 22-24th September), download poster
  • 2020 25th World Muscle Society Congress (Virtual, 28th September-2nd October), download poster
  • 2019 24th World Muscle Society Congress (Copenhagen, 1-5th October), download poster
  • 2019 52nd European Society of Human Genetics Conference (Gothenburg, 15-18th June), download poster
  • 2019 The Finnish Society of Medical Genetics spring meeting (Helsinki, 25th March), oral
  • 2018 23rd World Muscle Society Congress (Mendoza, 2-6th October), download poster
  • 2018 Finnish Neuromuscular Club Meeting (Helsinki, 25th May), oral
  • 2017 22nd World Muscle Society Congress (St. Malo, 3-8th October), download poster
  • 2017 50th European Society of Human Genetics Conference (Copenhagen, 27-30th May), download poster
  • 2017 ILS PhD Symposium Chained to Science (Tvärminne, 4-5th May), oral
  • 2017 Finnish Neuromuscular Club Meeting (Helsinki, 21st April), oral
  • 2016 4th Next Generation Genomics Symposium (Helsinki, 24-25th October), oral
  • 2016 21st World Muscle Society Congress (Granada, 4-8th October), download poster
  • 2016 Oxford Gene Technology CytoSure User Group Meeting (Birmingham, 8-9th September), oral

As reviewer of scientific publications

  • BMC Genomics
  • European Journal of Human Genetics
  • International Journal of Molecular Sciences
  • Molecular Diagnosis & Therapy
  • European Society of Human Genetics conference 2023 abstract reviewer

Other contributions

  • Examiner of high-school textbook (Biom 6, Swedish edition) for Otava (2023)
  • As reviewer of Masters Thesis: 2