The PIMU Center for Medical Genetics is a structural subdivision of the University Clinic of the Privolzhsky Research Medical University (PIMU), located in Nizhny Novgorod at Semashko Street, 22 (the building of the Institute of Pediatrics).[1] The Center provides consultation and diagnostic services in hereditary diseases, prenatal and reproductive genetics, oncogenetics, and health genetics.
Areas of work
The Center sees children, adults, and couples. Indications for a child's consultation include delays in physical, neuropsychological, or sexual development, epilepsy, abnormal neonatal screening results, metabolic disorders, congenital malformations, and suspicion of a hereditary syndrome. Adults are advised to seek a consultation if they have a burdened family history or chronic or oncological diseases — especially those diagnosed before the age of 50 — or if they need an interpretation of a genetic test already performed. For couples, indications include pregnancy planning, consanguineous marriage, infertility, recurrent pregnancy loss, and preparation for IVF.[1]
The Center includes a molecular pathology laboratory. The tests available include whole-genome sequencing, karyotype analysis, noninvasive prenatal testing, liquid biopsy, measurement of PCA3 gene expression in prostate cancer, the Mammaprint test for breast cancer, as well as tests of genetic predispositions, individualized diet selection, and microbiome composition.[1]
Physicians and practice
Consultations at the Center were conducted by the geneticist Denis Chernevsky, who also held the position of assistant at the Department of Faculty and Outpatient Pediatrics at PIMU. In his practice, he explained to patients the significance of incidental findings in whole-genome sequencing: in particular, he described situations in which a child with neurological disorders was found, incidentally, to carry a mutation in the BRCA1 gene, which raises the risk of breast, ovarian, prostate, and pancreatic cancer in carriers. Chernevsky stressed that reputable laboratories are obliged to report mutations from a list of 97 genes for which effective prevention or treatment exists. The geneticist Denis Chernevsky died on October 2; his wife announced his death on his Telegram channel "Genetics Minute." Despite a serious illness that he had fought for about seven years, Chernevsky continued to see the Center's patients until the end of August of that year.[3][2]
Chernevsky's research focused on the clinical and molecular genetic features of hereditary liver diseases in children; its results were applied in the practice of the Institute of Pediatrics and in student training. While preparing his candidate's dissertation, Chernevsky followed children with liver diseases of unclear origin.[3][1] Appointments at the Center can be booked by phone at +7 (831) 436-60-45.[1]
References
- Official website (archive) (pimunn.ru)
Sources
- Open Nizhny — Geneticist Denis Chernevsky died on October 2; his wife reported his death on his Telegram channel "Genetics Minute." Despite a serious illness, with ко
- genetics.pimunn.ru — PIMU Medical Genetics Center (archive)
- pimunn-clinika.ru — "Genetics Minute" from Denis Chernevsky, a physician at the PIMU University Clinic