|
Expedition team (left to right): Leila Elkanova, PhD student, Research Centre of Medical Genetics, RAMS, Marianna Ivanova, Oftalmic ltd, Varvara Galkina, clinical genetics, Rena Zinchenko, leader of the group Research Centre of Medical Genetics, RAMS, Olga Khlebnikova, ophthalmogenetics, Research Centre of Medical Genetics, RAMS, , Alexander Perepelov, neurologist, Saransk.
Consulting, collecting disease and family anamnesis, biomaterial collecting by team leader Rena Zinchenko.
Collected biomaterial during the expedition will allow to determine molecular reasons of the diseases, reveal spectrum and frequency of mutations in russian population (Menzelinsk area, Tatarstan republic, Russia).
30 thousand people were screened, detailed diagnostics was provided in more than 500 patients.
29 clinics of rural area were vizited, including:
Старо-Мазинский ФАП
Холодно-ключинский ФАП
Кадряковский ФАП
Каран-Азиковский ФАП
Верхнеюшадинский ФАП
Ново-Мазинский ФАП
Николаевский ФАП
Русско-Каранский ФАП
С/з им.Воровского ФАП
Дружбинский ФАП
Новый Мелькенский ФАП
Бикбуловский ФАП
Ст.Матвеевский ФАП
Степановский ФАП
Юртовский ФАП
Коноваловский ФАП
Топасевский ФАП
Кузембетьевский ФАП
Нар.Кичувский ФАП
Верхне-Такерменский ФАП
Тулубаевский ФАП
Деуковский ФАП
Атряклинский ФАП
Татарско-Мушугинский ФАП
Калтаковский ФАП
Старо-Иркеняшский ФАП
Also citizens of area capital, Menzelinsk, were screened. We thank chief of Menzelinsk hospital Olga Chernysheva for hospitality, wonderfully organized workflow and her assistant Anna for guiding us in our travelling in the region, which made our work so much easier.
Syndrome and isolated eye pathology was revealed in expedition. Stargardt disease, ocular-cutaneous albinism, Lawrence-Moon syndrome, juvenile cataract, retinitis pigmentosa (different types), Williams syndrome, X-linked nystagmus and other inherited diseases.
Results of the expedition research will allow evaluate inherited diseases load in tatar population and define mutation spectrum most common for Russians.
(c) Marianna Ivanova, 19 March 2013
|
|