PROJECTS:


- Patients with PWS / counties

Patients with PWS / counties



- Norwegian-Romanian (NoRo) Parternership for Progress in Rare Diseases

Our priorities are the forming of a work relationship with a Norwegian partner and the cooperative development of a proposal plan for improving the quality of life for individuals affected by rare diseases in Romania. The proposal plan will focus on addressing both the relevant needs of patients with rare diseases (equal access to early diagnosis, quality treatment and rehabilitation services) and the development of a training network for staff and professionals who provide services to these patients. Additionally, we aim to establish a hub to connect those with rare disease that have been suffering in isolation and with lack of resources for too long.
With the conclusion of the seed money project, the partners will be prepared to submit a comprehensive proposal to Norway Grants and Innovation Norway. The proposal will include a plan for the dissemination of information and skills to rare diseases stakeholders (doctors, specialists, families and patients) through trainings as well as the preparation of an interdisciplinary committee to address the needs of patients with rare diseases in accordance with the National Plan for Rare Diseases and the Romanian Ministry of Health. This proposal will also provide for the creation of a rare disease rehabilitation center which focusing on therapeutic, psychological and social services for rare disease patients and their families.
ACTIVITIES:
1. Initiate a cooperative partnership with an experienced Norwegian organization already established in the field of rare diseases. We have already been in contact with the Landsforeningen for Prader-Willi Syndrome and will be in contact with the FRAMBU Center for Rare Disorders in regards to a potential partnership. This partnership will function as an information exchange between the two countries through shared resources and training events in order to better serve the populations of individuals inflicted with rare disease in each respective area.
2. Contact potential partners, beneficiaries and professionals with experience in the field of rare diseases in Romania. Create a database of these stakeholders and invite them to attend a workshop to assess the needs of patients with rare disease in Romania.
3. After the database and assessment workshop is completed, create a skilled project proposal team which will determine the strategy plan for the development of trainings tailored to the needs of each stakeholder group. This team will create both a face-to-face training curriculum for staff, parents and patients and plan an online e-learning program with the goal of professional accreditation. These goals will fit within the framework set forth by the Romanian Ministry of Health in the recently signed National Plan for Rare Diseases. The National Plan includes mandates for new services and opportunities for patients with rare diseases.
4. Research models of rare disease rehabilitation centers in Norway and the rest of the world and, with the assistance of specialized consultants in the field, provide a comprehensive study of necessary staff, equipment and other resources required to create an environment catered to the needs of various prominent rare diseases (autism, et al.). We will then seek out an appropriate building and a qualified architect to prepare the necessary technical documents for facilities to fit these needs.
5. Create both financial and narrative reports of our progress under the seed money program and prepare a final submittal for the partnership proposal under the Norway Grants program. This partnership proposal will initiate the e-learning programs, training programs and rehabilitation center prepared for by the seed money.



- Corelation of clinic, genetic and epigenetic aspects implicated in the etiology of Prader Willi/Angelman syndroms: model of multidisciplinary abordation for rare diseases in Romania

Romanian Prader Willi Association is a partner in this project coordinated by Medical university Timisoara.
The aim of the project is the integration of a multidisciplinary approach for Prader Willi and Angelman syndromes, distinct genomic diseases, with a neurodegenerative component. The main lesion is localized on the 15q11.2-13 chromosome caused during genitors´ gametogenesis and reproduction process. This deficiency may be represented by deletion, uniparental disomy and altered epigenetic marking through DNA methylation or chromatin modification. Both diseases are caused by changes in parent contributions on the aforementioned region. The modifications in imprinting diseases like Prader Willi and Angelman, require: the study of regional regulation for genetic/epigenetic processes in clusters; the contribution of specific genes regulating the imprinting of cluster formation; enhancer activity, the DNA and chromatin replication timing, as well as correspondence between histones, protein complexes, iRNA and epigenetic processes from DNA. The project envisages the cytogenetic and molecular genetics approaches in the syndromes diagnosis, establishing a European research network partnership.
The research will enable: 1. establishment of a strategy in definition for genotypes PWS/AS, 2. correct identification of the genetic defect, 3. desciphering the variation in gene expression/ gene subsequention and their regulation pathway mechanism, 4. the involvement of epigenetic factors that modulate (enhancing/decreasing) the severity of phenotypic aspects into the diagnosis protocols. The project envisages the understanding of early development processes and hopefully will contribute to elucidate the basic mechanisms determining the clinical classical modifications. Creation of a database will permit the collection of clinical, genetic and epigenetic data from Romania and further the integration into the European data base. Due to high mortality and morbidity associated with PSW/AS, this project will be the ground for new clinical studies to establish guidelines for diagnosis and treatment in order to improve the quality of medical practice and an improvement of medical and social standard for affected patients with PWS/AS.



- ROMANIAN NATIONAL ALLIANCE FOR RARE DISEASES - RONARD

The goal of our project is to increase the awareness of the community on rare diseases through consensus building between different stakeholders involved in this field (patients, professionals, social workers, etc).
The project is supported by a grant from the Trust for Civil Society in Central and Eastern Europe.

1.5 Objectives:

a. To develop a national network of key representatives from patient organizations, communities, and public institutions - the Romanian National Alliance for Rare Diseases;
b. To establish a common strategy for tackling the issues related to rare diseases;
c. To organize an Information Campaign on rare diseases, as part of the National Conference for Rare Diseases;
d. To create a national training programs targeting all stakeholders involved in rare diseases;

1.6 Activities:

1. Creation of the project team - meeting of the partners of the project, including associations for rare diseases and groups of patients, professionals and representatives from public institutions involved in working with patients with rare diseases to establish the work strategy including establishing goals, objectives, responsibilities, and activities.
2. Identification of the key representatives to be part of the network;
3. Organization of 4 regional level meetings to establish the Romanian National Alliance for Rare Diseases in Zalau, at the Information Center on rare Genetic Diseases;
4. Development of a common strategy of RONARD – with common mission, vision, objectives, and activities, with the guidance of EURORDIS, Ministry of Health, Ministry of Education and Research, Ministry of Labor, Social Solidarity and Family.
5. Organization of a national Information Campaign as part of the National Conferences for Rare Diseases on social aspects of rare diseases including the distribution of informational and recruitment materials, press conferences, motivational advocate speakers;
6. Organization of the National Conference for Rare Diseases, invited speakers from EURORDIS;
7. Distribution of the national strategy on rare diseases;
8. Lobby and advocacy to transform the national strategy on rare diseases into a National Plan for Rare Diseases;
9. Development of a national training program on the basis of the National Plan for Rare Diseases: EURORDIS has agreed to help organize some of the trainings based on their experience, as well as on projects which have been supported by the European Commission.
10. Organization of 4 regional training courses targeting stakeholders involved in diagnosis and management of rare diseases; the general topics covered will be: The importance of patient organizations. Achievements and limits; The activity of RONARD – Data bases, National Plan for Rare Diseases; Reference centers for rare diseases; Most common rare diseases; The role of clinical doctors in diagnosing and following up a patient with a genetic disease; Aspects of medical bioethics in rare genetic diseases, in light of European/Romanian legislation; Orphan drugs;
11. Ongoing monitoring and evaluation of the project and it’s goals and dissemination of project results at national and international level



- BIG BROTHER BIG SISTER

Together with the Zalau Local Council – The Community
Social Work Department, Speranta Center for Inclusive
Education and Gheorghe Sincai Pedagogical High school, we
have started the project BIG BROTHER BIG SISTER.
With the financial support of the Zalau Local Council, we
will recuit and train 15 volunteers from the Pedagogical
High school to work with children with disabilities produced by rare genetic diseases from the community of Zalau.
They will develop socialization activities, such as: a minicinema at the Information Center for Rare Genetic
Diseases, group trips to museums, theaters, concerts,
organising shows on special occasions – June 1st, Easter,
Christmas, etc.



- THE 6TH INTERNATIONAL SCIENTIFICPRADER WILLI SYNDROME CONFERENCE ? THE FIRST PRADER WILLI SYNDROME AND RARE DISEASES CONFERENCE FROM ROMANIA ? JUNE 21-24, CLUJ


For the first time, Romania ? through RPWA, was selected by the world organization IPWSO to organize in June 21-24 2007 the International Prader Willi Congress. Representatives from over 70 countries will participate ? specialists, patients and parents and the theme selected is: ?Concentrate on the positive aspects of Prader Willi Syndrome?. Within this even we will organize a conference on the global approach of rare diseases.

OBJECTIVES:
► To improve access to information on diagnosis and management of Prader Willi Syndrome and other rare genetic diseases;

► Direct access to information on results of international research, treatments and orphan drugs;

► Creation of an international support network, at the level of families s well as specialists and medical institutions;

► Development of national and international partnerships for approaching PWS and other rare genetic diseases;


ACHIEVEMENTS:
► Meetings with members of the organization committee, setting the program of the conference and of the budget;

►Meetings between IPWSO representatives with those of the Medicine and Pharmacy University ?Iuliu Hatieganu? in order to discuss issues related to a possible collaboration in organizing this world event ;

► Participation to various national and international conferences and promotion of the conference;

►Identification of potential funders for organizing the conference.




- SHARING SKILLS AND EXPERIENCE

Starting 2004, we started a collaboration with the German organisation: Internationales Bildungs und Sozialwerk e.V. RPWA visited ?St. Martin? Home from Naumburg in 2004and 2006 in order to gain information and knowledge about the German experience in ensuring an independent life for people affected by Prader Willi Syndrome, in the ?group home? system.

OBJECTIVES:
► To ensure access to information from the German experience in assisting people afftected by PWS and autism in ?group homes?.

► To transfer ?know- how? and develop new collaborations;


AVHIEVEMENTS:
► Access to information about the organization of ?group homes? for patients with PWS and autism;

► Improved organizational management by transfer of know how and examples of ?best practice;

► New collaborations: financial support for the organization of the International PWS Congress in Cluj ?Napoca, June 21-24 2007;

► Support in dissemination of information about PWS in-country (due to the Romanian partners of BSW);

► National and international promotion of RPWA image;




- STRENGHTENING THE ORGANIZATIONAL CAPACITY OF THE CIVIL SOCIETY IN ROMANIA AND BULGARIA

The purpose of the project is to improve the quality and accessibility of social services provided by NGOs in Romania and Bulgaria by organizing trining courses for organizations selected from the 2 countries. The courses were divided into two: an initiation course organizaed in July 2006 in Silistra, Bulgaria and an advanced course to be organized in December in Bucharest, Romania. These courses consis of topics like: project management, communication and PR, lobby and advocacy techniques, fundraising. Additionally, topics like organizational structure, networking, human resources management and recruitment, etc will be discussed.

OBJECTIVES:
► 1. To strengthen the role of the civil society in Bulgaria and Romania in optimizing the social environment by stimulating new types of cooperation.
► 2. To increase the abilities of the representatives of the civil society in attracting funds and improving their communication with the public, with funders, politicians, administration and last, but not least, their own ?clients

ACHIEVEMENTS:
► Participation of RPWA to the initiation course in July 2006, Silistra, Bulgaria.

►New partnerships signed with Romanian and Bulgarian organizations

► Improved information and networking activities.





- INTEGRATION THROUGH SPORTS

The Romanian Prader Willi Association in partenrship with BACH Zalau, Salaj ANPH Inspection, ?ACASA? Foundation, Department of Youth and Sports, Department for Social Work and Child Protection, Community Social Work Department, Special School ?Speranta?, Zalau, Simleul- Silvaniei, Cehu- Silvaniei Community Services Centers, CITO Badacin Down Sybdrome Association Cehu - Silvaniei, with the financial support of the Zalau City Hall, SC Vidalis Impex SRL, Special Olimpics Bucuresti and SC Tonelli SA developed the project ?Integration through sports? ? part of the Special Olympics program.

OBJECTIVE:

► to integrate children and young people with mental disabilities into the community by actively involving them in sports competitions, providing them the chance to physically develop, to prove courage, to enjoy life together with family, friends, other athletes and community members.


ACHIEVEMENTS:

► Development of physical abilities through sports in 78 children and young people with disabilities;

► Stimulation of self-esteem by active participation in community;

► Improvement of health for 78 children and young people with disabilities through sports;




- RESIDENTIAL SERVICES FOR YOUNG PEOPLE WITH MENTAL HANDICAPS AND WHO HAVE BEEN ABANDONED FROM THE STATE CHILDCARE SYSTEM

This project was started at the beginning of 2005 and has been accomplished in collaboration with the Zalau City Hall ? the Community Social Work Department, and financed by ROAD England (Romanian Aid Distribution). In this project, ten young people benefit from material support (paid rent), and counseling for an independent life.

OBJECTIVES:

► To improve the quality of life for 10 young people with mental deficiencies who left the statce care system and were not reintegrated in their families;

► To ensure a work place and to pay rent for 10 young people;


ACHIEVEMENTS:

► 10 young people are integrated in the community, having a place to live (financial support from ROAD - England) and a work place (support from DASC);

► The community is aware of the problems that young people leaving the sate care system have to deal with (homeless;

►The number of crimes involving these young people is decreased;

► the young people in the project acquire new work and independent living skills;



- TRAINING TEACHERS IN INCLUSIVE METHODS

The main objective of the project is to train a group of psychology studentd and teachers from the Zalau community in identifying pupils with special needs, developing educational diagnosis tests, administrating those tests, analyzing the educational diagnosis tests, developing intervention methods based on them, implementing these methods in class and registering progress or needs, based on the pupils? performances.

OBJECTIVE:

► To provide methods and work instruments to teachers on diagnosis and intervention in case of children with special educational needs.

ACHIEVEMENTS:

► 28 teachers and students are trained in making needs assessments in class, having the necessary knowledge to create diagnosis tests and individualized lesson plans;

► Increased number of children with special educational needs integrated in mainstream education;

► Improved knowledge for children with disabilities in class;



- TOGETHER FOR A BETTER LIFE FOR PATIENTS WITH PRADER WILLI SYNDROME AND OTHER RARE DISEASES

In September 2005, we applied for and were given financing for a project ?Together for a better life for patients with PWS and other rare diseases?, financed by Royal Netherlands Embassy in Bucharest through the Matra KAP - Programme.
Objective
To improve the access to medical care for people with rare diseases in Romania.
Achievements
We have also organized in Bucharest a Conference about PWS as a part of the Balkan Congress for Endocrinology and the first meeting of the parents with PWS children from: Salaj, Cluj, Bihor, Satu- Mare and Bucharest. They were able to share their experiences, fears and hopes and started a support group.
We have established support groups for parents of children affected by:
- Muscular dystrophy
- Down Syndrome
- Diabetes Insipidus
- Galactosaemia
- Autism.
We established contacts with Genetic Lab ? Bucharest and renewed our relations with Mauro Baschirotto Institute for Rare Diseases in order to help our patients to receive a proper genetic diagnosis for free. 10 children suspected by PWS were tested for free in Bucharest and one who is suspected to have Angelman Syndrome has been tested by the Italian laboratory.
We have laid the base for a local network, organizing the first meeting with major decision makers of our community- ?Implication through the Community?. There were representatives present from the health department, education department, social services, public institutions and NGO?s.
We have translated and collected information on 10 different rare diseases. All this information will be published in a brochure with Matra Kap financial support: Prader Willi Syndrome, Werdniq Hoffman Disease, Lobstein Syndrome, Autism, Williams Syndrome, Down Syndrome, Diabetes Insipidus, Galactosaemia, Muscular Dystrophy and Total Congenital Atrioventricular Block A (BAVC.



- EQUAL OPPORTUNITIES FOR PEOPLE WITH PRADER WILLI AND OTHER RARE DISEASES

In June 2005, the Romanian Prader Willi Association applied for a project and it was accepted and implemented, ?Equal opportunities for people with Prader Willi and other Rare Diseases?, financed by Co-operating Netherlands Foundations for Central and Eastern Europe- CNFCEE.

Objectives:
 to improve the access to information on rare diseases for patients, their families and specialists;
 to create a national network of families and specialists.

The achievements of this project include:

-Translating and printing of the Educational Packages, offered by the International Prader Willi Syndrome Organization. They consist of three parts: one for doctors, one for parents and one for the crisis situation. Once we have made the translations, IPWSO- through our twin partner, the German PWS Association, printed the translated documents.
-Establishing support groups for parents of the children with rare genetic disorders at the hospital for rehabilitation from Dezna, Arad County, encouraging the exchange of experiences and knowledge.
-Finishing the renovation of the Center for Information about Rare Genetic Disorders.
-Organizing the Conference about Prader Willi Syndrome as a satellite symposium of the Balkan Congress for Endocrinology in Bucharest, in close partnership with the Romanian Endocrine Society. For the conference activities, we have invited professionals from IPWSO and BAPES ? Bulgarian Association for Promoting Education and Science, the first association from East of Europe that have established a Center for Rare Diseases in Bulgaria. The main achievements of this conference were: new Romanian doctors interested in PWS and actively involved in RPWA and the next World Conference about PWS will be organized by RPWA in Cluj ? Napoca, June 2007, for the first time in an emerging member country, with the participation of over 600 people from over 60 countries.