The J Daughter Siberia Project
- PDF / 540,374 Bytes
- 4 Pages / 595.276 x 790.866 pts Page_size
- 19 Downloads / 174 Views
LETTER TO EDITOR
The J Daughter Siberia Project Irina Tuzankina 1 & Mikhail Bolkov 1 & Umida Nabieva 2 & István Lázár 3 & László Maródi 4,5 Received: 4 May 2020 / Accepted: 11 October 2020 # Springer Science+Business Media, LLC, part of Springer Nature 2020
In recent decades, there has been an unprecedented increase in knowledge of the previously neglected field of primary immunodeficiency diseases (PID) in developed countries, particularly in Western Europe and the USA [1]. In sharp contrast, there are still countries with total populations in the tens of millions for which there are no diagnosed and registered PID patients, especially in Eurasia and Africa. Rigorous and coordinated activities by medical authorities, health ministries, and national and international societies and foundations are therefore required to support local teams and institutional groups in launching PID-oriented programs for education and clinical research. The J Project (JP) program was implemented in Central Europe in 2004, to overcome the problem of PID underdiagnosis and undertreatment in most countries in this part of the world [2]. We describe here how the J Siberia Project (JSP) was created and has spread throughout the Urals and Siberia and subsequently to Central Asia to increase awareness of PIDs. As no
* László Maródi [email protected] Irina Tuzankina [email protected] 1
Laboratory of Immunology of Inflammation, Institute of Immunology and Physiology of the Ural Branch of the Russian Academy of Sciences, Yekaterinburg, Russian Federation
2
Department of Autoimmune Disorders, Institute of Immunology and Human Genomics, Academy of Sciences, Tashkent, Republic of Uzbekistan
3
Department of Meteorology, University of Debrecen, Debrecen, Hungary
4
PID Clinical Unit and Laboratory, Department of Dermatology, Venereology and Dermato-oncology, Semmelweis University, Budapest, Hungary
5
Present address: St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University, New York, NY, USA
PID-focused education program existed in the region, a professional team in Ekaterinburg came together to establish the JSP Educational Committee, to design, coordinate, and run the project. Given the complex clinical and immunological phenotypes and genotypes of the diseases already known (more than 200 estimated clinical illnesses and more than 140 PID-causing genes had been discovered by 2009), we included clinical immunologists, research immunologists, and geneticists among the leaders of this project. In particular, geneticists familiar with both gene sequencing and classical cytogenetics and the analysis of chromosomal abnormalities were invited to join us, with the aim of providing strong educational programs on the variable expressivity and incomplete penetrance of a number of monogenic PIDs. Approaching PIDs from different standpoints (the clinical, immunological, biochemical, and genetic standpoints) has been a key concept in our 10 years of educational activity. Review papers presented by local opinion leaders,
