Bulgarian scientist behind breakthrough in genetic diagnostics

For millions of families struggling with infertility, advances in genetic diagnostics have transformed what is possible in reproductive medicine. One of the technologies now widely used in IVF clinics and research laboratories around the world was developed by a Bulgarian scientist who is little known outside professional circles: Dr Emmanuel Kamberov.

Technologies such as PicoPLEX® and ThruPLEX® are now used globally for the early detection of genetic abnormalities in embryos and during pregnancy. They are significant because they can perform highly precise genetic analysis from a single human cell, which was long considered one of the major challenges in molecular diagnostics.

Dr Kamberov, a microbiologist, researcher and inventor, was one of the key scientists who developed the first technology capable of amplifying the entire human genome from a single cell. This breakthrough reshaped reproductive medicine by giving doctors far earlier and more accurate information during IVF procedures, significantly improving the chances of healthy pregnancies.

Born in Veliko Tarnovo and raised in Bansko, Kamberov studied microbiology at Paisii Hilendarski University of Plovdiv before beginning an academic career in Bulgaria. In 1992, he moved to the United States — a step that would define the course of his scientific work.

He later worked at Wayne State University and University of Michigan before joining biotechnology company Rubicon Genomics, where he eventually became vice-president for research and development. It was there that the PicoPLEX® technology was developed — a technology now used in more than 95% of IVF clinics worldwide.

Beyond reproductive medicine, it has also found applications in cancer diagnostics and single-cell genomics. Global biotechnology companies Illumina and Thermo Fisher Scientific hold licences for its production and distribution.

During the pandemic, Kamberov contributed to the development of PCR tests for the rapid identification of variants of the SARS-CoV-2 virus.

The Bulgarian-American scientist has today authored over 40 scientific publications and holds more than 30 international patents in molecular diagnostics. He has been a member of the New York Academy of Sciences since 1996.

“This gives me the opportunity to help people around the world by finding ways to diagnose genetically linked diseases quickly and accurately,” said Kamberov.

His family background is also closely tied to public life. His father, Father Stefan Kamberov, served as a priest in Bansko for many years and is still fondly remembered for his community work.

Despite his international recognition, Dr Emanuel Kamberov is relatively unknown in Bulgaria, even though his work has had a direct impact on modern reproductive medicine and the lives of millions of families worldwide.

Information by Keti Trencheva, BNR correspondent in Bansko.
Responsible editor: E. Karkalanova