by Ewa Pronicka and coordinators

Twenty five years ago the Monument-Hospital Children's Health Center in Warsaw (now the Children's Memorial Health Institute, CMHI) started its mission. In a huge complex of newly designed buildings, with the most up-to-date equipment, a group of leading authorities in pediatrics and their co-workers: young doctors, nurses, technicians and other, started working on a very special idea.

The hospital was founded by Poles living in Poland and abroad, as well as many donors from most European countries. The idea to commemorate children who suffered during World War II by erecting a hospital/monument dates back to 1963. The cornerstone was laid in 1968 and the first patients were admitted in 1977.

At present, the CMHI covers an area of 20 hectares and employs almost 2,000, making it the largest pediatric center in Poland. The institution is the highest-reference hospital for all of Poland, as well as an active research and education center. Funds come from government, health insurance and other resources.

In January 2000 the Perfect project was created by CMHI research team in the answer to the call of European Commision especially addressed to candidate countries under 5. Framework Programme for "Centers of Excellence". In the field of "Chronic and degenerative deseases, cancer, diabetes, cardiovascular diseases and rare deseases" 107 projects were sent from the CCs and 29 ( 19 from Poland) received European financial support. The PERFECT affiliated to the CMHI is only large pediatric hospital among those successfully passed the competition. Acronim PERFECT means: the Pediatric Research Center Focusing on Effective Child Treatment.

The PERFECT project involves six clinics and departments of the CMHI in joint research and educational activity. Geneticists, specialists in pediatric metabolic medicine, immunologists, cardiologists and cardiosurgeons, oncologists and gastroenterologists have been cooperating in PERFECT activities.

PERFECT Aims
Intention of the PERFECT project is to increase the role of The Children's Memorial Health Institute (CMHI) as a leading pediatric educational and research institution for Poland and to broaden its influence on other countries in Central and Eastern Europe. The main mission is to create a Polish network of centers of excellence in pediatrics and to integrate with the European Research Area.
The CMHI, as Poland's largest pediatric reference hospital and governmental pediatric research institute, is in a position to serve a large population of 38 million inhabitants, as well as the medical environment in the eastern region of the future European Community. To make the most of this advantageous position, we plan to build a national research and education area in the field of child health as one of the PERFECT's major goals.

The PERFECT work plan consists of 13 work packages, comprising 10 related to international scientific exchanges, as well as the organization of seminars, workshops and symposia, one related to economics and management in pediatric health care, one to education at post-graduate level, and one to project coordination and management.

To ensure sustainable cooperation with the European Research Area, internationally recognized scientists in the field of pediatrics have been invited to join the Advisory Board of PERFECT. The Board will monitor and evaluate the progress of the project. During the annual meetings of the Advisory Board an annual project report will be presented by the PERFECT contact person, the presidium and managing director of the CMHI. Selected members of the Advisory Board will participate in the work package events.

After the end of the project, the CMHI will sustain its position as a center of excellence in pediatrics through keeping European cooperation, pediatric research, and high-level training at the center of its activities.

This will be done through:
■ attracting young post-graduate researchers to the Marie Curie Training Site, founded as one of the deliverables of the project;
■ further activities and development of networks created under the project;
■ sustained collaboration (enhanced during the project) with research partners in the EU;
■ increased number of international research grants, resulting in increased research capacity of the CMHI;
■ ensuring the participation of top level researchers from Poland and from abroad in the training programs.

"I hope that the program's implementation will help children suffering from rare genetic metabolic diseases called 'orphan,' to find in Poland professional care of European standards," says Prof. Ewa Pronicka, the PERFECT coordinator.

The Division of Metabolic Diseases
Head: Prof. Ewa Pronicka
The CMHI Division of Metabolic Diseases is a research and diagnostic center focused on early identification of rare and very rare inborn errors of metabolism (IEM). The CMHI is one of the few pediatric hospitals in the country to employ staff proficient and experienced in this new created medical sub-specialization (pediatric metabolic medicine).

Twenty-five years of continuous activity in the field of medical education and technology development resulted in significant improvements in the IEM detection rate in the country. For example the prevalence of organic acidurias over the last 10 years has increased 11 times, from below 1:100,000 births to 1:5,700 births (in selected areas).

The Division of Metabolic Diseases provides an ample set of "selective screening" procedures recommended for early identification of hundreds of IEMs. Nearly 100 new diagnoses of various IEMs are established each year, followed by family examination and genetic counseling. Over 1,000 affected families are under the Division's continuous supervision and treatment, creating outstanding and unusual material for clinical research and education in the field of these genetic "orphan" diseases.

At present, the Department is involved in European Research projects including the 4th and 5th Framework (European Study on Glycogen Storage Disease, EC Project BMH4-CT98-3079, QLG1-CT 2000-00047).

The head of the Division is the corresponding member of the Council of the Society for the Study on Inborn Errors of Metabolism (SSIEM) for Poland and the president of metabolic section of Polish Pediatric Society.

Department of Medical Genetics
The CMHI Department of Medical Genetics is one of the largest human genetic divisions in Poland. It is focused on clinical genetics, cytogenetics and molecular genetics. Prenatal diagnosis is also provided. The mission of the Department is to perform multi-disciplinary fundamental and strategic research on genetically determined disorders. The staff consists of 36 people, mostly biologists working in cytogenetic and molecular laboratories, and clinicians performing clinical genetic investigation and genetic counseling. The dysmorphologists in the Department are among the leading scientists engaged in researching rare genetic syndromes. The staff participates in the education of medical students at the Warsaw Medical Academy. Since 1999, when specialization in clinical genetics for medical doctors was introduced in Poland, they have taken part in postgraduate education in clinical genetics.

The Department carries out molecular diagnosis of 14 different genetic diseases including Hunter syndrome, Lesch-Nyhan syndrome, Kelley-Seegmiller syndrome, hyperammonemia type2 X-linked hypophosphatemia, glycerol kinase deficiency, 21-hydroxylase deficiency, Prader -Willi syndrome, Angelman syndrome, COX-deficient Leigh syndrome, Nijmegen breakage syndrome, Smith-Lemli-Opitz syndrome, Rett syndrome and LQT syndrome. The 15-year activity has allowed the recognition of the molecular basis of a number of genetic diseases among the Polish population.

Division of Immunology
Primary immunodeficiency diseases (PID) are rare and of variable severity, depending on the magnitude of the immune defect. However, due to the fact that more than 100 different disease entities are known, all PID considered collectively have a significant impact on public health. Why is recognition of the immuno-compromised state clinically important? Rapid diagnosis and early, aggressive, and appropriate therapy are necessary for successful management of infections.

Since 1980 the Department of Immunology of Warsaw's Children's Memorial Health Institute has been the reference center for diagnosis and therapy of PID for the whole of Poland. To date, 708 children with congenital immunodeficiencies have been diagnosed. More than 20 years of investigations into primary antibody deficiencies have provided standards for substitution gammaglobulin therapy for these children. Collaboration with the European Society for Immunodeficiencies and well-known European centers for genetic and immunological analysis resulted in an early stage of diagnosis of severe immune defects. This allows the possibility of bone marrow transplantation.

Contribution of other CMHI departments involved in the PERFECT project is also of grear importance. They work in the fields of the child's health a little better recognized by the Polish society in general. They are:
■ CMHI Department of Cardiology and Cardiosurgery (heads: prof. Wanda Kawalec and ass.prof. Bohdan Maruszewski),
■ CMHI Department of Oncology (head: prof. Danuta Perek),
■ CMHI Department of Hepatology, Gastroenterology and Immunology (head: prof. Jerzy Socha)

Achievements and position of the major departments which are involved in the joint research and educational activity of PERFECT are outstanding. All of them are especially involved in combinating the "rare chronic diseases" of children. All other (CMHI) professionals, researchers and employees are also efficiently participating in the PERFECT activity in some very important extent.

"All that is connected with obtaining and conducting the PERFECT programme is a difficult daily duty but also a new experience and an interesting adventure for the programme's executors., say the PERFECT secretaries Małgorzata Syczewska and Maciej Pronicki.

Advisory Board annual meeting opinion
This is the first year of an ambitious project: the first funded by an EU grant in a pediatric hospital in Poland. We strongly approve, and are supportive of, the work done so far. It is our impression that the aims and objectives of the meeting have been fully met.

We are pleased to note the organization of meetings. Small-scale expert workshops with international speakers have had an enormously beneficial effect. Invited foreign visitors have added value to the local Polish meetings and therefore contributed to disseminating information, technology and knowledge. We have listed suggestions to improve the reporting processes. Visits abroad can only contribute to improving local practice and be of educational value, if the aims of such visits are clearly defined, carefully planned and the achievements documented.

The Children's Memorial Health Institute in numbers:
- 573 beds
- 16,000-18,000 children admitted annually
- 3,500-4,000 procedures performed annually
Degrees and titles conferred by the CMHI:
- 32 professorships
- 34 assistant professors of medical sciences
- 163 PhD's
nearly 200 individual grants supported by the State Committee for Scientific Research (SCSR)
Current research projects:
- 30 grants SCRS
- 5 research projects conducted as part of cooperation with foreign partners
- 9 internal grants

Contact:
Prof. Ewa Pronicka
Division of Metabolic Diseases
Coordinator of PERFECT Program
The Children's Memorial Health Institute, 20 Dzieci Polskich St., 04-730 Warsaw, Poland
tel. (+48-22) 815-74-90
fax (+48-22) 815-74-89
e-mail: perfect@czd.waw.pl