Lydia Sagath

Molecular scientist based in Helsinki, Finland. lydia@sagath.com

I aim to be part of the advancements in the field of molecular medical genetics, with a specialization in disorders affecting the muscular system. The development of new diagnostic methods and uncovering the functional mechanisms of neuromuscular disorders lie in the center of my work.

Projects

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 is being done in collaboration with Stephan Lange's group in California.

January 2016 - Present

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 - Present

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 - Present

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.

December 2015 - Present

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 - September 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

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

Doctoral student

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

December 2015 - 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

  • 2019, Advanced course in genomics and gene regulation, University of Helsinki. Array-CGH practicals.
  • 2019, Genomes and cytogenetics, University of Helsinki.
  • 2018, Supervision of the intership work of an Erasmus student.
  • 2018, Practical course "Human genetics", Institution of Genetics, University of Helsinki.
  • 2017, Supervision of Master's thesis work of an Erasmus+ student.
  • 2017, Practical course "Laboratorio tutuksi" (biochemistry), Institution of Biochemistry, University of Helsinki.
  • 2016-2017, Mammalian Genomics Course, Institution of Genetics, University of Helsinki. Array-CGH practicals.
  • 2012-2016, Practical course in biochemistry, Institution of Biochemistry and Biotechnology, University of Helsinki.
  • 2012 and 2016, Practical course in microbiology and microbial genetics, Institution of Microbiology, University of Helsinki.
  • 2013, Practical course in gene technology I, Institution of Genetics, Unviersity of Helsinki.
March 2012 - Present

Skills & Interests

Professional skills

My main skills and expertise lie in genomic copy number variation analysis (specifically aCGH and ddPCR) and cell culture based functional protein studies, including High Content Screening. To complement these, I study statistics and R to support my data analysis skills and university pedagogy to support my teaching interests. As a side project, I'm developing the new webpages for our reseach group (including HTML, CSS, PHP).

Language skills

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

Personal interests

In my free time I enjoy horseback riding and various forms of art - I also enjoy playing music myself (much to the disdain of my neighbors). I am an active member of the amateur choir It's a Kuoro and Symbioosin kuoro. As of spring 2019 I am also pursuing the CMAS one-star diving certification.

Publications

Original publications

Posters and talks

  • 2019 The Finnish Society of Medical Genetics spring meeting (Helsinki, 25th March)
  • 2018 23rd World Muscle Society Congress (Mendoza, 2-6th October), download poster
  • 2018 Finnish Neuromuscular Club Meeting (Helsinki, 25th May)
  • 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)
  • 2017 Finnish Neuromuscular Club Meeting (Helsinki, 21st April)
  • 2016 4th Next Generation Genomics Symposium (Helsinki, 24-25th October)
  • 2016 21st World Muscle Society Congress (Granada, 4-8th October), download poster
  • 2016 Oxford Gene Technology CytoSure User Group Meeting (Birmingham, 8-9th September)