Something that “previously”, i.e. at the turn of the millennium, took several years to achieve can now be done in a few weeks. We are referring to the reading and screening of entire genomes for specific segments in order to glean information about certain diseases. “Our current priority is to combine high-throughput screening with diagnostics. We can offer such services in a previously unattained dimension,” said Dr. Dr. Saskia Biskup, managing director of CeGaT GmbH, going on to explain that modern methods and equipment are able to simultaneously analyse 30,000 genes. This in turn enables entire exomes, i.e. all coding DNA regions of an organism, to be analysed in record time. “We combine all genes that are known for a certain disease in a diagnostic panel and sequence them in parallel. This makes the investigations not only quicker but also cheaper,” said Saskia Biskup.

“This will lead to a revolution in genetic diagnostics,” said Saskia Biskup. Genetic diagnostics is still so new that many doctors who need genetic analyses still do not know about it. In the past, doctors and patients had to wait several months for test results. All this will now change rapidly thanks to the latest generation of equipment that is already being used by CeGat GmbH. CeGat was the first company in Germany to use the SoLiD high-throughput sequencing system marketed by Applied Biosystems.

SoLiD is currently the most effective sequencing system used for screening the genes of diagnostic panels. "Each panel that we develop is preceded by an establishment phase in which everything that is discovered with the high-throughput system is tested with common sequencing methods in independent experiments," explains Dr. Dirk Biskup who jointly manages the company with his wife. The two are playing safe: "We compare the high-throughput results with the results from standard methods and will only switch to routine sequencing once we have confirmed that the sequences provided by the SoLiD system are 100% identical with the results from control experiments," said Dirk Biskup.

Not all panels contain several hundreds of genes. At present, CeGaT is focusing particularly on the following four panels: epilepsy, Parkinson's, eye diseases and metabolic diseases. "The epilepsy panel comprises around 500 genes, the Parkinson's disease panel comprises "only" around 50 genes," said Saskia Biskup. An important step in the development of the panels is the enrichment of the genes involved in the respective diseases, for which CeGaT also uses external skills and works alongside well-known research and industry partners. CeGaT also works with Applied BioSystems, the USA-based supplier of the high-throughput sequencer, on the development of diagnostic applications. "We work in cooperation with Applied Biosystems in the field of diagnostic applications and are the company's major point of contact for the European market," said Dirk Biskup.

In principle, CeGat is open to all kinds of sequencing projects involving DNA and RNA from animals, plants and microorganisms. "We are also interested in metagenome projects. There are a number of attractive projects involving interesting aspects of nutritional physiology, for example the comparison of the genomes of a broad range of gastrointestinal bacteria," said Saskia Biskup. In future, the company will most probably continue to focus on human genetics, not least because Saskia Biskup is a human genetics medical specialist. Besides managing CeGaT GmbH, she also runs her own human genetics practice providing patients and other clients with information about all aspects of genetic diagnostics, helping them to understand results and ethical issues.

Saskia Biskup has two doctorates, which are the result of an impressive university career. She studied medicine in Würzburg at the same time as following a biology course. "At that time, the University of Würzburg was running a pilot project for medical students who were interested in research. The students were offered the opportunity to follow a condensed biology course which then enabled them to do a doctorate at the Faculty of Biology," said Saskia Biskup. In addition, the dedicated student chose to do some bioinformatics training at the University of Heidelberg. She then did her doctorate in biology and medicine, which led to the titles doctor in medicine (Dr. med.) and doctor in biology (Dr. rer. nat.).

Besides carrying out research and doing her doctorates, Saskia Biskup still had time left over for her private life: She met her future husband, Dr. Dirk Biskup, on a tennis court in Würzburg. After finishing their doctorates, Saskia and Dirk Biskup spent some time in the USA to broaden their professional horizons and gain international experience. Following their return to Germany, Saskia Biskup completed her training as a medical specialist in the field of human genetics at the University of Tübingen. The couple make an excellent team for the establishment of a life science company: Saskia Biskup brings her medical and scientific expertise to the company, Dirk Biskup, his economic know-how. "We complement each other very well and the idea of establishing our own company was something we initially thought of quite a while ago," said Dirk Biskup. The couple prepared their business plan together with no outside help and were able to convince the banks to provide them with the necessary loans.

Freedom of choice was the main motivation for Saskia Biskup establishing her own company. “I wanted to apply the latest technologies to which I would not have had access at the university in good time. Although the university was capable of financing large pieces of equipment, the process of obtaining what was needed would have taken far too long. We were worried that our competitors in the USA would pre-empt us if we waited too long to set up our own team and own skills."

It was not that easy to bring together a team of highly qualified and motivated people. “There are hardly any experts in human genetics on the job market. However, we needed such experts, especially because we intended to apply the latest methods. We also used protocols a long time before they were actually available in broader scientific circles,” said Saskia Biskup. Dirk Biskup points out that CeGaT GmbH was able to bring Dr. Detlef Böhm, one of the best sequencing experts in Germany, on board. Dr. Böhm became head of the company’s diagnostics and data processing division. “Dr. Böhm had previously proven pioneering skills in establishing new diagnostic human genetics methods. Thanks to his detailed though broad knowledge, Dr. Böhm is the ideal person for the job as head of CeGaT’s laboratory,” said Dirk Biskup. In addition, Dr. Christian Wilhelm, who has used state-of-the-art methods for many years, joined the company as head of human genetic diagnostics.

The time-consuming recruitment of CeGaT’s staff was worth the effort. The current team comprises seven first-class experts on whom the company founders can fully rely, and who join the founders in the process of turning innovations into applications as quickly as possible. The company can be sure that the quality and safety of its sequencing services always conform to the highest standards. The company expects to become certified as a human genetics diagnostics laboratory in the very near future.