RCMG and the Charity Fund «The Circle of Well»: Accurate Diagnostics for Effective Care of Patients with Rare Diseases
A press conference dedicated to the International Day of Rare (Orphan) Diseases is held in the press centre of IIC “Izvestiya” on February 24, 2022 at 14.00. The charity fund «The Circle of Well» was organised by the decree of the President of the Russian Federation to support children with serious life-threatening and chronic diseases, including rare (orphan) diseases. Expensive orphan medications are purchased at the expense of the fund. Accurate diagnostics is necessary to detect the molecular defect and to prescribe the most effective therapy to patients.
The Research Centre for Medical Genetics (RCMG) is the leading medical genetic institution of the country. More than ninety percent of diagnoses of hereditary diseases are established in the RCMG. RCMG experts conducted over sixty seven thousand high-tech genetic examinations in 2021.
The press conference will include:
- preliminary results of rare diseases new diagnostics programmes, medications for treatment of which are provided at the expense of the charity fund «The Circle of Well», including such diseases as spinal muscular atrophy, achondroplasia, Duchenne´s myodystrophy;
- launch of a new national programme to identify patients with neurofibromatosis.
A separate topic will be the effectiveness of targeted therapy in patients with cystic fibrosis. The first experience with this category of medications demonstrated that positive effects are not observed in all cases. This has been confirmed by the research of the function of the chlorine channel using innovative diagnostic methods in RCMG. The experts of the scientific and clinical department for cystic fibrosis at RCMG identified the reason for the lack of the expected effect of targeted therapy in some patients.
In addition, the press conference will announce new methods of diagnostics and control of treatment effectiveness, which were developped in RCMG for such diseases as Pompe´s disease, mucopolysaccharidoses and some other hereditary metabolic diseases.
The press conference will be attended by:
- Sergey Kutsev, holder of an advanced doctorate in medical sciences, professor, corresponding member of the Russian Academy of Sciences, Director of the Research Centre for Medical Genetics, chief external expert in medical genetics of the Ministry of Healthcare of the Russian Federation;
- Ekaterina Zakharova, holder of an advanced doctorate in medical sciences, professor, Head of the hereditary metabolic diseases laboratory at the Research Centre for Medical Genetics;
- Elena Kondratyeva, holder of an advanced doctorate in medical sciences, professor, Head of the scientific and clinical department for cystic fibrosis at the Research Centre for Medical Genetics, Deputy Director for science at the Scientific Research Clinical Institute for Children of the Moscow Oblast Ministry of Healthcare;
- Vladimir Strelnikov, holder of an advanced doctorate in biological sciences, professor, Head of the epigenetics laboratory at the Research Centre for Medical Genetics;
- Olga Shchagina, PhD, Lead Researcher of DNA-diagnostics laboratory at the Research Centre for Medical Genetics.
The broadcast will be available on the site iz.ru. via the link https:/iz.ru/video/stream/1
The event can be visited ONLINE. Media representatives can participate in the press conference remotely by pre-accreditation. It is necessary to send your name, company media name and mobile number attached to the installed application WhatsApp to the e-mail press-center@iz.ru to make it real.
To be accredited to the press centre you must send your name, your crew members´ series and passports´ numbers to the post.
Please note that media representatives will be admitted to the press conference if there is a QR code or a negative COVID-19 PCR test made not earlier than 48 hours before the event.
Media accreditation: press-center@iz.ru, tel. (495) 937-61-70, ext. 4805, 4236
Entrance for media representatives by prior accreditation upon presenting a passport or a press card.