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This conference, to be held in Totana from 18 to 20 October, is primarily aimed at creating a space for communication and exchange between affected families and parents of children with rare diseases and sensitize the general public on public health issues involve rare diseases.

Within the framework of the VI National Congress of rare diseases will place the I Iberoamerican Meeting on Rare Diseases and the First International Symposium Lipodystrophies.

We advance the conference program:

FRIDAY 18:

12:00 pm: OPENING CEREMONY PART 1

TESTIMONY OF RARE DISEASES TABLE:

· Moderator: Irene Tato.

Speakers (5 minutes each speaker):

or Virginia Philip: The power of living with an ER.

or Julian Island: The importance of family in rare disease research.

or Carmen Sever: The person with an RE: Defend your rights.

or Francisco Carrillo: The difficulties in access to treatment.

12:20 h: OPENING PART 2:

Between:

· Hon.

President of the Autonomous Community of the Region of Murcia.

· Hon.

Madam Minister of Health.

· Ms. Mayor of Totana.

· President of ERDF.

· President D'Genes.

17:00 h.: Inaugural Conference of the Sixth National Congress, taught by Ms. Theresa Pampols.

17:45 pm: Lecture: Molecular mechanisms of family lipodystrophy.

Taught by Dr. Corinne Vigouroux.

18:30 pm: Rest.

19:00: Conference: Advances in Morquio Syndrome.

Taught by Dr. embodies Guillen, head of the Unit of Medical Genetics, University Hospital Virgen de la Arrixaca.

19:45 h: Roundtable: The image of rare diseases in the Spanish media.

Report 2012-2013.

Coordinates: D.

Santiago Quiroga.

Speakers: Antonio M.

Banon (University of Almería, CySOC), Josep Solves (Cardenal Herrera University), Sebastian Serrano (University of Valencia) and Juan Manuel Arcos (University of Almería, OBSER).

SATURDAY 19:

From 9:30 to 14:00 h: Papers from the Sixth Congress of ER:

· From 9:30 to 10:00 h: Defending the rights of patients with RES.

Speaker: Ms. Gema Chicano, president of the Spanish Association of ectodermal dysplasia.

· From 10:00 to 11:30 h: Roundtable: Bringing the laboratory to the street.

Speakers: Dr. Sofia Sanchez Iglesias, University of Santiago (Paper: How we know we have a pathogenic mutation), Alejandro Ruiz Riquelme, University of Santiago (Paper: When a protein goes wrong: the work of a molecular biologist), Dr. Vanessa López González, Unit of Medical Genetics, University Hospital Virgen de la Arrixaca, Murcia (Paper: Why is my son has no body fat: Lipodystrophies genetic and acquired), Prof. David Araújo-Vilar, University of Santiago ( Paper: Orphan drugs (I): the Spanish experience with recombinant human leptin) Representative Medical Director Bristol-Myers-Squibb (Paper: Orphan drugs (II): Administrative position in the world of human recombinant leptin (Metreleptin) ).

· 11:30 to 12:00 h, REST.

· From 12:00 to 14:00 h: Roundtable: Research and treatments.

Coordinates: D.

Jordi Cruz, president of MPS Spain and vocal training and research in ERDF.

Speakers: Dr. Manuel Perez, president of the College of Pharmacists of Seville (Lecture: Rare diseases, a long way towards a solution), Dr. Sonia Santillan, representative Genome Systems (Topic: Diagnosis of rare diseases by massive sequencing: A new model of knowledge and prevention), Dr. Albert Jovell AELMHU association representative (Orphan Drugs and Ultrahuérfanos in Spain), and Dr. Joseph Mecca, Hospital Virgen de la Arrixaca (Paper: Multiple sclerosis: diagnostic and therapeutic advances).

17:00 to 21:00 pm: Papers of the Sixth Congress of ER:

· From 17:00 to 17:30 h: New ways of intervention to support pupils with extensive and widespread: "Multisensory Communication".

Speaker: Ms. Lucia Diaz.

· From 17:30 to 18:15 h: The importance of care and education emotional and sexual dimension of people with rare diseases.

The role of families and other social actors in different evolutionary stages.

Speakers: Natalia Rubio, president of the State Association Sexuality and Disability, and Carlos de la Cruz Martín-Romo, psychologist and sexologist, Chief Master in Sexology Camilo José Cela University.

· From 18:15 to 18:30 h: Attitude child orthopedic surgeon with rare diseases: over which you want the can.

Speaker: Dr. Cesar Salcedo.

· From 18:30 to 19:00 h: Rare diseases in Portugal: Raríssimas, 25 years experience.

Speaker: Paula Costa e Brito, president of Raríssimas and the Portuguese Federation of ER (FEDRA).

· From 19:30 to 20:30: Panel: New Seipina associated neurodegenerative syndrome.

Celia's encephalopathy.

Speakers: Dr. M.

Rosario Domingo-Jimenez and Dr. E.

Guillen-Navarro, Child Neurology Section and Unit of Medical Genetics, University Hospital Virgen de la Arrixaca (Lecture: Clinical Phenotype), Prof. David Araújo-Vilar, UETeM-CIMUS, University of Santiago (Lecture: Genetic Basis. Expression Studies ); Prof. Jesús R.

Requena, Universidad de Santiago (Paper: Advances in the understanding of the structure and function of the seipina).

· From 20:30 to 21:00 h: Conclusions of I Iberoamerican Meeting with representatives of associations RES.

Claudia Delgado, Director of the Spanish Federation for Rare Diseases (ERDF).

· 19:00 to 19:30 h, REST.

21:00 pm: Closing of the VI National Congress.

Speakers:

· President of ERDF.

· President of D'Genes.

· Representative city of Totana.

For more information and registration on the website and in the mail www.dgenes.es congreso@dgenes.es, the registration deadline is until September 30, 2013.

Source: D´Genes