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Saskia Biskup – towards precision medicine

Therapeutic success can only be achieved when diagnoses are as precise as possible. Nowadays, genetic analyses can make precise diagnoses for many diseases. And thanks to high-throughput technology, results are available to patients very quickly. Dr. Dr. Saskia Biskup recognised the importance of precision medicine many years ago and went on to found CeGaT GmbH, a company that combines human genetics with high-throughput sequencing. Three subsidiaries have since been created and Biskup, a medical doctor by training, would under no circumstances give up her autonomy for a purely academic career.

Over the past eight years Dr. Dr. Saskia Biskup, medical doctor and scientist, has established eight companies as well as running her human genetics practice in Tübingen. © CeGaT GmbH

Dr. med. Dr. rer. nat. Saskia Biskup had the idea of setting up her own company around ten years ago when she underwent specialist medical training at the Institute of Human Genetics at the University of Tübingen. At that time, high-throughput sequencing was emerging as a method for analysing human DNA – a technical revolution, as Biskup calls the sequencing technology. She comments: “The old sequencing technologies worked well, but I knew from my own day-to-day work that patients had to wait an extremely long time for the results. High-throughput sequencing was therefore a quantum leap for genetic diagnostics.”

This led to Biskup's idea of using high-throughput sequencing for dealing with a plethora of human genetics issues. “However, this was difficult to implement at the university,” says Biskup. “I discussed the idea with my husband and we thought about doing it ourselves. He is an economist and developed a business plan, which was subsequently reviewed and assessed by a number of institutions. And then not long after, someone gave us a loan.”

Glossary

  • Desoxyribonucleic acid (DNA) is a double-stranded, helical macromolecule encoding the genetic information of an organism.
  • A gene is a hereditary unit which has effects on the traits and thus on the phenotype of an organism. Part on the DNA which contains genetic information for the synthesis of a protein or functional RNA (e.g. tRNA).
  • The genome is entire genetic material of an organism. Each cell of an organism contains the entire genetic material in its nucleus.
  • Genetic testing allows to identify different individual characteristics of a person by analyzing the person's DNA. A genetic test can be used to resolve medical or diagnostic problems like the cause of an inherited disease or the general vulnerability to genetic diseases. Furthermore, the analysis of the DNA can also lead to the generation of a genetic fingerprint, which allows the determination of a person's identity or ancestry.
  • Parkinson's disease (also called Morbus Parkinson) is a slowly progressing degenerative cerebral disease. It is caused by the loss of dopaminergic neurons in the brain, which leads to a lack of dopamine. This causes a reduced activity of the so-called basal ganglia, which are very important for motor control. The proceeding dysfunction of the motor skill manifests itself in the typical symptoms of Parkinson like muscular rigidity, amyostasia, akinesia and posture instability.
  • A metagenome is the whole genetic material, which is recovered directly from environmental samples.

The patient is central

In May 2009, Biskup and her husband, Dr. Dirk Biskup, turned their idea into reality by establishing the Center for Genomics and Transcriptomics CeGaT GmbH in Tübingen, a company that deciphers hereditary information and performs medical interpretation of sequencing data. In the same year, Biskup completed her specialist medical training and applied for a licence to open her private human genetics practice. However, she did not give up her scientific work straight away. Since 2010, she’s been heading up a research group at the Hertie Institute for Clinical Brain Research at the University of Tübingen, where she also holds a teaching position. “This will finish at the end of this year,” says Biskup who is investigating the genetic basis of Parkinson’s disease. “The work here is very experimental, but in the future I'll stop focussing on basic research and move on to patient-oriented research, i.e. translational medicine.”

Biskup and her husband share the work between them: she brings the innovative and strategic element, while he brings the more operational and organisational part, as she calls it. © CeGaT GmbH

Patients are important to Biskup. That is why she makes a point of regularly attending her medical practice: "I see actual patients, and not just a handful a week," she says. "Our innovations come from our contact with our patients, which give rise to a broad range of clinical issues and medical needs. This also informs our strategy relating to where CeGaT will go in the future, and helps us develop new ideas. I also spend a lot of time researching what’s new in diagnostics.” She points out that what motivates her to take on the workload associated with her many activities is the ability to work more independently, which means she can move things forward in a completely different way than in purely academic research settings.

CeGaT subsidiaries use CeGaT technology

The technology CeGaT uses for personalised diagnostics applications consists, amongst other things, of high-throughput sequencing using different diagnostic panels that can simultaneously analyse all genes associated with a disease, thus rapidly identifying aberrant types. “Over the past few years, we have invested quite a lot of money and accumulated a great deal of knowledge. At some stage we realised that these technologies can also be used for completely different fields of research. “CeGaT now has three subsidiaries that use the technologies developed by Biskup and her team. The Center for Metagenomics CeMeT, founded in 2014, carries out microbiome analyses; Cenata GmbH, founded in 2015, analyses foetal DNA in paternal blood using a prenatal test called Harmony®; and the Center for Animal Genetics CAG, founded in 2015, offers genetic testing of dogs, cats and horses. At company headquarters in Tübingen, tens of thousands of analyses are carried out every year. Cenata GmbH carries out the majority of the 50,000 analyses, followed by CeGaT with up to 15,000 examinations per year.”

Innovations can only be achieved independently

In spite of a tremendous workload, the responsibility for 150 employees and the entrepreneurial risk, Biskup, who now owns several companies, would not want to go back to any another way of working. “Once you have experienced what it is like to work independently, you would never want to go back to working in a university or clinic,” says Biskup going on to add, “working in cooperation with a university or clinic, is of course, a different matter. But I would never work for a boss again in an organisation that I cannot shape myself. You can only shake your head at some of the things that go on in universities. If you are innovative and want to make things happen, the only way to do it is on your own, by being independent. Of course, there are always setbacks. But if you fail, you just pick yourself up again. Over the past few years, Biskup has received many awards for her commitment. For example, since 2011 she has been one of the “100 Women of Tomorrow”, a German project aiming to draw attention to outstanding women in arts, culture, science and business.

Precision medicine is the future of CeGaT

The uniqueness of the young company comes from combining laboratory analyses with proven medical expertise. © CeGaT

There are no conflicts of interest regarding patents and publications at CeGaT and its subsidiaries. “I am very ‘anti-patent’,” says Biskup. “We want to publicise what we do as much as possible. Individual patients can only benefit from things when they are accessible.” And she adds: “But for us, patents are not so important. We work largely scientifically and publish around 20 papers per year. This is more important to us than thinking about ways to best protect ourselves with patents. We do not want to sell, but are very interested in our company and want to develop it further.”

Despite accreditations and successes, CeGaT is certainly also part of international competition. Biskup explains that CeGat is well positioned thanks to its optimised top quality products that can be produced quickly and cheaply, as well as the company’s proven medical expertise. She further highlighted that the medical aspect will remain CeGaT’s major focus in the future. “Genetic diagnostics is always the start, at least in the ideal case scenario, and comes before a therapy is initiated. Only precise diagnoses allow precision therapy, i.e. precision medicine, which we hope to come increasingly closer to in the future. I also don't want to exclude the possibility of shifting our business from a diagnostics centre to a therapy centre,” says the entrepreneur highlighting her future plans.

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