TRANSLAD - Translational medicine in development disorders
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TRANSLAD - Translational medicine in development disorders

TRANSLAD

A best-practice project focussing specifically on the development of healthcare, research and education in the area of rare developmental disorder diseases.

The principal axes of FHU-TRANSLAD
  • Treat Treat

    A centre for patient evaluation and multidisciplinary care

  • Innovate Innovate

    A diagnostic centre at the cutting edge of molecular genetic technology.

  • Teach and Train Teach and Train

    A training and genomics information referral centre for hereditary diseases

  • Humanise Humanise

    A think-tank on societal and ethical issues

  • Find Find

    A clinical, molecular, neuro-cognitive and pathophysiological research centre

  • Home
  • Introduction
  • Diseases involved
  • Principal Axes
    • Area 1 : Treat
    • Area 2 : Innovate
    • Area 3 : Teach and Train
    • Area 4 : Humanise
    • Area 5 : Find
  • Follow-up
  • Coordination
  • Teams
    • Presentation
    • Diagnostics and healthcare teams included in FHU
    • Research teams included in FHU
    • Teams partnering with FHU-TRANSLAD
  • Support us
  • Home
  • Home
  • Principal Axes
  • Treat
  • Objectives of these Reference Centre
  • Expanding therapeutic education in rare diseases

Expanding therapeutic education in rare diseases

One of the more recent tasks of the rare diseases reference centres has been to implement patient therapeutic education (PTE) programmes for the specific purpose of adopting a multidisciplinary treatment policy with respect to those persons affected (patients, parents, caregivers).
PTE is a key asset for fostering positive momentum in terms of a sense of autonomy and experience-sharing among peers. These programmes help disseminate sound information on skills and best practice. They create opportunities for the enhancement of doctor-patient relationships.

The AnDDI-Raresnational network will be developing 4 PTE projects. They were submitted in 2020 in Burgundy Franche-Comté under the name "Les 4 fantastiques":

  • The "Sens%Diag" pathway, for "undiagnosed" persons ;
  • The "22 Ways Forward" path, for persons and caregivers involved with 22q11 deletion syndrome patients ;
  • The "On the Road to Autonomy" pathway, for child-to-adult transition of persons with mild developmental intellectual disability (ID) disorders ;
  • The "E...change of view pathway", on the perception of others in relation to aesthetic deformity in malformative syndromes, jointly developed with the MAGEC network.

The FHU TRANSLAD teams are intimately involved in the formulation of these PTE programmes, training 11 professionals of various vocations.

Area 1 : Treat

  • Introduction
  • CLAD-Est Reference Centre
  • The DéfI-Bourgogne Reference Centre
    • Introduction
    • Team
  • MAGEC Reference Centre
    • Introduction
  • LLD Referral Centre
    • Roles and tasks
    • The Bourgogne LLD Referral Centre
    • The Franche-Comté LLD Referral Centre
  • ARCs
    • Roles and tasks
    • The Autism Resource Centre of Bourgogne
    • The Autism Resource Centre of Franche-Comté
  • Objectives of these Reference Centre
    • Diagnosing and identifying the genetic cause of rare diseases
    • Co-ordinating patient follow up
    • Recommending consultations with specialist doctors
    • Expanding therapeutic education
    • Providing supportive care to families
    • Setting up genetics counselling
  • Special attention to the quality of healthcare

Other axes

  • Area 1 : Treat
  • Area 2 : Innovate
  • Area 3 : Teach and Train
  • Area 4 : Humanise
  • Area 5 : Find

CHU Dijon - 14 rue Paul Gaffarel - BP 77908 - 21079 Dijon - France
Tél. : 03 80 29 53 13 - Fax : 03 80 29 32 66 - E-mail