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Implementation of a Genetic Testing Program for Cystic Fibrosis Patients. Perm

In Perm on July 11 and 12, cystic fibrosis patients  were counseled as part of the joint program of the N. P. Bochkov Research Center for Medical Genetics and the Ostrova Charitable Foundation to perform genetic tests on cystic fibrosis patients and reduce the number of cystic fibrosis patients that have not undergone DNA testing.

Twelve cystic fibrosis patients were counseled, including two over 18 years of age. After an examination and familiarization with their medical history, they were giving recommendations for follow-up and treatment adjustments. Eight patients, including the children who had an unconfirmed diagnosis of cystic fibrosis, needed more extensive genetic testing.


The following presentations were given as part of the “Cystic Fibrosis in Children” clinical conference for physicians:

  • “Aspects of Managing Pediatric Cystic Fibrosis Patients Identified by Neonatal Screening.”
  •  “Correction of Vitamin D Deficiency in Pediatric Cystic Fibrosis Patients.” 
  •  “Care of Pediatric Cystic Fibrosis Patients in a Regional Center.” 

After examining patients, a meeting was held with representatives of MechtaYazhit (Dreaming to Live), the Society for Assistance to the Disabled and to Cystic Fibrosis Patients, a regional charitable organization in Perm. Specialists from the N. P. Bochkov Research Center for Medical Genetics spoke about modern approaches to inhalation therapy, kinesitherapy, and the realities and prospects for targeted treatment of cystic fibrosis. Parents’ questions were answered.