The Mayor of Totana, José Martínez Andreo, Councillor for Health, Trini Cayuela, and the president of the Association for Rare Disorders Totana "D'Gnes" Naca Perez, and members of the Executive of the Association have presented the program activities of the III National Meeting on Rare Diseases (ER) to be held from 22 to 24 October at the Center for Lifelong Learning in Hemophilia "The Pond."
This meeting, involving third consecutive national patients, families and professionals involved in this type of disease, is to sensitize the public of the difficulties found these patients daily.
The president of the association, Naca Pérez de Tudela has requested the assistance of volunteers and family and reiterated that this meeting aims to inform society of the existence of these conditions and the social and family represent, and the need help and warmth that the family needed.
He reported that there are over 200 people registered and more than 30 associations around the country.
It has also indicated the different activities that will start on Friday afternoon and conclude on Sunday morning, and the prestigious speakers who will address practitioners and researchers Genetics Service hospitals in the Arrixaca and Morales Meseguer and Sant Joan de Deu Barcelona, among others.
The mayor thanked the board for D'Genes the work they are doing and that has allowed Totana become a regional landmark and national study and research of this type of disease and advocated raising the commitment administrations to work towards the assistance of these people and their families.
He highlighted the need for concerted efforts to search for resources that have an impact on improving the quality of life and care of patients and their families and welcomed by the administration to collaborate in organizing the event and to help these families are really suffering from this problem 365 days a year.
In this regard, he congratulated the President of the Association and all its board by "the desire, effort and enthusiasm" inverted when organizing an event of this kind, which will set a benchmark in regional, national and international.
Martínez Andreo has committed to continue contributing to the initiatives presented by this partnership and take actions that contribute to improving the quality and life expectancy of patients and their families, calling the investment of study and research of this type diseases, affecting one in 2,000 people.
However, he recalled that the local corporation has adopted several motions to implement a comprehensive care plan for rare diseases within the Health Plan of the Autonomous Region of Murcia and Medical Genetics Unit of reference in the Virgin Hospital the Arrixaca of Murcia.
In addition, it supported the creation of an appropriate register for Rare Disorders, enabling the identification of the affected population in the region and the establishment of a Regional Commission for the preparation of the Comprehensive Care Plan for rare diseases made up the members mentioned above and the commitment to dispose of a plot to build a reference center to study these diseases in Totana.
Program activities
FRIDAY 22:
17:30 h: Reception and accreditation of the Third Meeting of ER and Third National Congress.
18:30 h: Welcome Ceremony.
19:00 pm: Sightseeing tour of the old town of Totana.
21:30 h: Dinner.
Lounge - Restaurant Venta La Rata.
SATURDAY 23:
9:30 pm: Reception and accreditation of the Third National Congress on Rare Diseases.
Continuing Education Center of Hemophilia (Private The Pond).
10:00 h: Opening of the Third Congress of ER.
Speakers:
· HE.
Government Delegate, D.
Rafael González
Tovar.
· Ilma.
Minister for Health Ms., Mrs. M ª Ãngeles Palacios.
• Mr. Mayor of Totana, D.
José Martínez Andreo.
· Ms. Vice President of the College of Physicians of the region of Murcia, Mrs. Isabel Montoya Martinez.
• Mr. Dean of the Faculty of Medicine of the University
Murcia, D.
Joaquín María López García-Tin.
• Mr. Dean of the Faculty of Social Work
Universidad de Murcia, D.
Pastor Henry Sellers.
· Ms. President of the Spanish Federation Disease
Rare (ERDF), Mrs. Isabel Calvo.
· Ms. D'Genes Association President, Mrs. Eulalia Pérez Naca
Tudela.
10:45 h: Presentation of the State Reference Center of Attention to People with Rare Diseases and their families.
From 11 am to 13:45 pm: Presentations at the Third Congress of ER (1 meeting):
• 11 h: translational research in rare diseases, neuromuscular disorders, for example.
Rapporteur: Dr. Eduardo Tizzano, Genetics Service, Hospital of San
Pablo (Barcelona).
· 11:30 pm: Mastocytosis, present and future.
Speaker: Dr. Luis Escribano, Mastocytosis Research Institute of Castilla La Mancha, Hospital Virgen del Valle (Toledo).
• 12 pm: Experience in diagnosis and prevention of rare diseases at the Center for Clinical Biochemistry and Genetics of the Community of Murcia.
Speakers: Dr. Asuncion
Fernández, Director, Center of Biochemistry and Clinical Genetics, Hospital Universitario Virgen de la Arrixaca.
· 12:30 pm: Break.
· 12:45 h: Presentation of the DICE-APER ONLINE Procolo for the care of patients with rare diseases in Primary Care. "
Speakers: Dr. Gema Esteban Bueno, Family Doctor, President and Medical Spanish Association for Research and Assistance Wolfram syndrome, and Dr. Miguel Garcia Ribes, family physician.
SEMFYC Working Group, Rare Diseases Clinical Genetics.
· 13:15 h: The Genetic Origin intellectual disability as a model of the complexity of the ER: our experience at the Cruces Hospital (Barakaldo, Vizcaya).
Speaker: Dr. M ª Isabel Tejada Minguez, responsible
Laboratory of Molecular Genetics, Hospital de Cruces.
14:15 h: Lunch.
Lounge - Restaurant Venta La Rata.
Of 18 ha 21:30 h.: Presentations at the Third Congress of ER (2 nd session):
· 18:00 pm: HAMPs: A cell uncommon for rare diseases.
Speakers: Dr. Carlos Rodriguez, director of the biotechnology company PROJECH and director of the uterine stem cell research, and Ms Naomi Eiroa, biochemistry and a researcher at PROJECH.
· 18:45 h: Psychological Intervention in ER.
Rapporteur: Ms
Pilar Mendieta, a psychologist and director of ASTRAPACE.
· 19:15 h: Coordination of health resources in the field of rare diseases.
Speakers: José Fernández-Gomez and Paloma Recio Rufete Bernárdez.
General Directorate of Planning, Health and Pharmaceutical Management and Research.
Ministry of Health, CARM.
· From 19:45 to 20:00 h.: Break.
· 20:00 pm: Educational Resources for patients with ER.
Speaker: Juan Navarro Barba.
Head of Service
to Diversity.
Ministry of Education, CARM.
· 20:30 pm: Living with ER.
Speakers: Catherine Cerda
Llompart "Hiperlisinemia" and Iliana Capllonch Cerda
"Takayasu's arteritis, autoimmune" and Susana Romero
"Moebius Syndrome."
21:30 h: Closing of the Third Congress and the Third Meeting of ER.
Speakers:
Health · Ms. Alderman of the City of Totana, Mrs.
Trinidad Cayuela.
• Mr. CEO of ERDF Murcia, Mr. D.
Juan Carrion Tudela.
· Ms. D'Genes Association President, Mrs. Naca Eulalia Perez de Tudela.
From 19 to 21:00 pm: All children attending the Third Meeting leisure activities and workshops.
22:00 h: Dinner.
Lounge - Restaurant Venta La Rata.
SUNDAY 24:
From 10 h 14: Day of coexistence of professionals, families and people diagnosed with ER.
Includes guided tour of the archaeological site of La Bastida and
Santuario de Santa Eulalia.
14:30 pm: Farewell lunch.
Lounge - Restaurant Selling The
Rat.
