Task Force Opening: Integrating New Technologies for the Diagnosis of Rare Diseases

The Diagnostics Scientific Committee (DSC) is establishing a Task Force on the Integration of New Technologies for the Diagnosis of Rare Diseases. This activity proposes to identify the most clinically beneficial combination(s) of metabolomic and genomic tests coupled with artificial intelligence methodologies, which would then be prioritized for development of diagnostic standards. This will ultimately lead to the more rapid adoption of new techniques/technologies and increase the benefit to patients above the current diagnostic algorithms.

The DSC is looking for members to populate this Task Force with the below expertise in one or more of the following areas:

  • Techniques for rare disease diagnosis including metabolomics, genomics, Artificial Intelligence and Machine Learning experts Methodologists
  • Translational Medicine
  • Diagnostic Evaluation Scientists
  • Patient Advocates
  • Research Funders

The usual time commitment includes quarterly 1-hour teleconferences, one face-to-face workshop (1-2 days), and regular email correspondence.

If you are interested in taking part in this activity, please send a CV, biosketch and letter of motivation (one paragraph each) to the Scientific Secretariat, scisec-irdirc(a)ejprarediseases.org before March 1st, 2021.

Importantly, do not forget to add in the subject of your email the reference of the project (Ref: TF-DSC-NewTech).

Only selected candidates will be contacted. Other applications will be kept for potential future use.

The Diagnostics Scientific Committee (DSC) is establishing a Task Force on the Integration of New Technologies for the Diagnosis of Rare Diseases. This activity proposes to identify the most clinically beneficial combination(s) of metabolomic and genomic tests coupled with artificial intelligence methodologies, which would then be prioritized for development of diagnostic standards. This will ultimately lead to the more rapid adoption of new techniques/technologies and increase the benefit to patients above the current diagnostic algorithms.

The DSC is looking for members to populate this Task Force with the below expertise in one or more of the following areas:

  • Techniques for rare disease diagnosis including metabolomics, genomics, Artificial Intelligence and Machine Learning experts Methodologists
  • Translational Medicine
  • Diagnostic Evaluation Scientists
  • Patient Advocates
  • Research Funders

The usual time commitment includes quarterly 1-hour teleconferences, one face-to-face workshop (1-2 days), and regular email correspondence.

If you are interested in taking part in this activity, please send a CV, biosketch and letter of motivation (one paragraph each) to the Scientific Secretariat, scisec-irdirc(a)ejprarediseases.org before March 1st, 2021.

Importantly, do not forget to add in the subject of your email the reference of the project (Ref: TF-DSC-NewTech).

Only selected candidates will be contacted. Other applications will be kept for potential future use.