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
  • Diagnosing and identifying the genetic cause of rare diseases

Diagnosing and identifying the genetic cause of rare diseases

The FHU clinical team has set out an official genomic consultation document for undiagnosed patients. More information

For whom ?

The genomic consultation is for Bourgogne patients presenting with suspected monogenic disease.

How ?

    • The genomic consultation pre-test :

The genomic consultation takes place in two stages. At the initial interview, the geneticist evaluates the symptoms and gives the patient a detailed explanation of what the High-Throughput Sequencing analysis involves and how the results are interpreted. The patient is invited to ask any questions he may have before giving his consent. The informed consent form must be filled in by the patient. 

    This is used to extract DNA for HTS analysis.
    • The results :

Three types of results may be obtained :
- positive (the cause of the disease is identified),
- uncertain (a highly probable candidate gene is identified but the consequences cannot be clearly determined based on current scientific knowledge),
- negative (the cause has not been identified but an annual repeat of the analysis can be requested).
The results will be discussed in a consultation about 6 months after the first blood test.
If the results are positive, the ramifications in terms of individualised multidisciplinary treatment, and genetic counselling, will be explained to the patient.
If secondary results are obtained, the patient will be referred to the appropriate healthcare network.

  • A post-rendering day clinic is proposed for a later date to have a meeting with the reference centre's multidisciplinary team and have any additional questions answered

The clinico-biological path of high-throughput exome sequencing analyses

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