SPbU’s geneticists and doctors from St Petersburg helped family with a rare genetic disorder have a healthy child

The study has been published in Medical Genetics. The couple visited the Medical Genetic Diagnostics Centre of St Petersburg (MGDC) as they were expecting a child. They were aware that their family had inherited kidney disorders and wished to know whether it would affect their firstborn. Although the risks associated with the specific genetic disorders were relatively low, the doctors detected some signs of delayed development. After the child was born, he was tentatively diagnosed with microcephaly (abnormal smallness of the head).

More precise diagnostics was hardly possible as the signs were far from being typical. The MGDC, hospital No 40, SPbU and D. O. Ott Research Institute of Obstetrics and Gynecology performed for the first time complex molecular and genetic DNA diagnostics and revealed that the mother, father and baby had mutations in the gene PHGDH that are associated with two disorders: Neu-Laxova syndrome and phosphoglycerate dehydrogenase deficiency.

SPbU, hospital No 40, and Ott Institute developed a non-standard bio-information protocol for the DNA molecular analysis by performing exomic sequencing and accumulating data. The algorithms SPbU has already developed are on a par with those used abroad and to a certain extent surpass foreign counterparts. This case is credible evidence that we can solve these problems in theory and practice.

Director of the BioBank Anderi Glotov

The technology enabled the scientists to perform a genetic study and help the couple to plan their second pregnancy, said the doctor-geneticists of the MGDC Lidia Liasina who consulted the couple. “In autumn 2017, they had a baby, — said Lidia Liasina. — The birth weight was 3,100 kg, height 50 cm, and APGAR score 9/10. It is a perfect score. I checked her when she was three month old: she was happy and developing normally. They finally made their dream happen”.

The success of the most up-to-date tools in the diagnosis is only 30-35%. In other words, we can prove the diagnosis by using the genetic testing in one of three cases. SPbU is constantly striving to increase the list of the disorders that we can diagnose and make the diagnostics more effective: for example, now we can detect some of the endocrine disorders in children (MODY, in particular) in 50% of cases.

“Why is it so important to study such disorders? — said Oleg Glotov who is a chief research associate at the Institute of Translational Biomedicine at SPbU and Director of the Department for Genetic Studies at the hospital No 40. — Today they are not a rare occurrence: almost 5,000 diseases are genetically associated. The WHO suggests that there are 10,000 genetic disorders. Probably even more. The single-gene disorders occur in one of hundred births. It is not a rare occurrence. Earlier we didn’t have such technologies to diagnose them, and the up-to-date methods are more successful in diagnostics of inherited disorders”.

The study was supported by the grant of the Russian Science Foundation (project No 14-50-00069).

“On the one hand, St Petersburg is densely populated, and on the other hand, unlike Moscow, it has a great number of brilliant geneticists. Here we have such an amazing constellation of geneticists who got well-rounded intellectual training in my laboratory”, — concluded SPbU Prof Vladislav Baranov who is the chief specialist at the Committee for Healthcare in Medical Genetics of St Petersburg, Director of the Laboratory of Prenatal Diagnostics of Inherited and Congenital Diseases at D. O. Ott Research Institute of Obstetrics and Gynecology.

The Science-lunch was also visited by Acting Hospital Chief Executive Officer of the medical genetic Diagnostics Centre of St Petersburg Konstantin Karpov, Deputy Hospital Chief Executive Officer of the hospital No 40 Andrei Sarana, Department of Medical Genetics of the North-Western State Medical University named after I.I. Mechnikov, and others.