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Institute for Functional Gene Analytics (IFGA)

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Prof. Dr Jörn Oliver Sass

Professor for Bioanalytics and Biochemistry

Unit

Department of Natural Sciences

Location

Rheinbach

Room

I 218; Labor F 012

Address

von-Liebig-Str. 20

53359 Rheinbach

Telephone

+49 2241 865 9668

Profile

Teaching Activities

• Biochemistry

• Methods of Bioanalysis & Laboratory Diagnostics

• Clinical Chemistry

• Pathobiochemistry & Metabolic Diseases

• Inborn Errors of Metabolism

Research

Study of pathobiochemical mechanisms and laboratory diagnostics of inborn errors of metabolism, with special focus on aminoacylases (Aminoacylase 1 deficiency, Canavan disease), on amino acid N-acyltransferases und the metabolism of branched-chain and selected other amino acids (including disorders of ketone body formation and utilization). Development and implementation of bioanalytical methods for laboratory diagnostics.

Students with great interest in inborn errors of metabolism, biochemistry and methods of bioanalytics or molecular biology (and good grades) are invited to send a letter of motivation, CV and transcript of records to joern.oliver.sass@h-brs.de

Additional functions
  • Member of the senate of  Promotionskolleg NRW
  • Study Advisor Applied Biology and Biomedical Sciences

Curriculum vitae

Professional History

1991: Diplom-Biochemiker (M.Sc. equivalent; Free University Berlin)

1991-1995: Research Associate (Free University Berlin)

1991-1993: Postgraduate diploma course in Environmental Protection at the Humboldt-University Berlin

1996: Promotion to Dr. rer. nat. (Ph.D. equivalent; Free University Berlin)

1996-2001: University Assistant at University of Innsbruck (University Hospital of Child and Adolescent Medicine), Austria

2002-2006: Head of the Laboratory of Metabolism of the Center of Child and Adolescent Medicine (ZKJ) of the University Hospital Freiburg; trainer according to the German Vocational Training Act

2005: Habilitation (postdoctoral degree with lecturing qualification) in Clinical Biochemistry (Albert-Ludwigs-University Freiburg)

2006-2012: Head of the Laboratory of Clinical Biochemistry and Metabolism, Administrative Head of the Laboratories of Hematology and Hemostaseology (ZKJ, University Hospital Freiburg)

Since 2009: Apl. Professor (supernumerary professor) of the Albert-Ludwigs-University Freiburg

Since 2010: Communicating Editor/Advisory Board Member of the Journal of Inherited Metabolic Disease

2012-2014: Principal Chemist, University Children’s Hospital Zürich; lecturer at the University of Zürich

Since 2015: Professor of Biology, in particular of Bioanalytics and Biochemistry (Bonn-Rhein-Sieg University of Applied Sciences)

2017-2020: Research Professor

2020-2021: Visiting Professor, UCD Conway Institute of Biomolecular & Biomedical Research, University College Dublin (Ireland)

Memberships

Member of the Education and Training Advisory Committee (ETAC) of the Society for the Study of Inborn Errors Metabolism (SSIEM; www.ssiem.org) and of the European registry and network for Intoxication type Metabolic Diseases (E-IMD; www.e-imd.org) as well as cooperation partner of Metabolicum Ruhr  (www.metabolicum-ruhr.de).

Research Projects

Analysis platform for molecular mechanisms and cellular functions

An analysis platform consisting of four components offers a significant expansion of biomedical analysis possibilities at Hochschule Bonn-Rhein-Sieg (H-BRS). A binding analysis device based on microscaled thermophoresis contributes an innovative approach to characterising interactions involving proteins. A multi-mode detection device for UV/Vis, fluorescence and luminescence allows, among other things, a variety of enzyme activity tests and imaging studies in new or improved form. An automated patch clamp system and a system for solid-supported membrane (SSM)-based electrophysiology for high-resolution transporter studies provide the equipment basis for expanding research into membrane transport processes and other molecular mechanisms of disease development.

Project management at the H-BRS

Prof. Dr Jörn Oliver Sass
Ketone bodies: More than just energy carriers! (KETOplus)

So called ketone bodies acetoacetic acid and (R)-3-hydroxy-n-butyric acid (bOHB) are compounds which provide the brain with fatty acid-derived energy, mainly after fasting. In recent years it has become obvious that ketone bodies can have more biological functions than just being energy carriers. Our project is devoted to such roles of ketone bodies that may also be important for pathogenesis and treatment of diseases.

Project management at the H-BRS

Prof. Dr Jörn Oliver Sass
Amino acid N-Acyltransferases in Human Metabolism

Our research group studies rare genetic defects in metabolic pathways. We are aiming at a better understanding of pathomechanisms underlying such inborn errors of metabolism. We continuously offer internships and thesis projects focused on analytical biochemistry (for example on the development of diagnostic tests) and on the characterization of metabolic diseases. Phase 2 reactions increase the water solubility of compounds and thus facilitate their excretion. This can be achieved by conjugation of a coenzyme A (coA)-activated acid for instance with an amino acid molecule.

Project management at the H-BRS

Prof. Dr Jörn Oliver Sass
FunForGen

Individual variants in the DNA sequence (i.e. the linear sequence of the 4 DNA building blocks, the so-called bases) are called polymorphisms and can influence the function of genes and thus contribute to the clinical manifestation of diseases or influence their course and therapy. In addition, polymorphism patterns can be so characteristic for each individual that they also enable the forensic identification of perpetrators and victims on the basis of a DNA trace.

Project management at the H-BRS

Prof. Dr Richard Jäger
Aminoacylases (Deficiencies of Aminoacylase 1 and of Aspartoacylase/ Canavan Disease)

Our research group studies rare genetic defects in metabolic pathways. We are aiming at a better understanding of pathomechanisms underlying such inborn errors of metabolism. Many metabolic diseases result in early death or severe handicaps if they are not treated in an adequate manner. Early diagnosis is a prerequisite for therapeutic approaches, which may enable normal development in some of those diseases.

Project management at the H-BRS

Prof. Dr Jörn Oliver Sass
Inborn Errors of Metabolism: Disorders of the catabolism of branched-chain amino acids and D-glycerate kinase deficiency

Our research group studies rare genetic defects in metabolic pathways. We are aiming at a better understanding of pathomechanisms underlying such inborn errors of metabolism (IEM). Many metabolic diseases result in early death or severe handicaps if they are not treated in an adequate manner. Early diagnosis is a prerequisite for therapeutic approaches, which may enable normal development in some of those diseases.

Project management at the H-BRS

Prof. Dr Jörn Oliver Sass

Publications