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We provide consultations and advice for people with rare diseases and their families
Our core objectives drive the work we do
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Improve the proportion of patients with precise genetic diagnosis
We provide patients and families with rare diseases with a precise genetic diagnosis. Achieving a precise genetic diagnosis enable us to deliver personalised disease management plans (based on care guidelines) that can improve health outcomes per se.
We support patients and families with information about how genetic conditions might affect them. This information helps them understand and adapt to the medical, psychological and familial implications of genetic contributions to disease.
Provide genetic counselling to patients & families
Tackle stigmatization, promote advocacy and public awareness for rare diseases
Working with the community and local associations is esential to increase the visibility of rare diseases. We use a multi-pronged approach to mobilise public and private actors, and the community at large to increase support and validation for people living with rare diseases.
Build human capacity for rare diseases in Senegal
We contribute to the development of local expertise for the diagnosis and care of patients with rare diseases. In particular, we provide training in genomic medicine and bioinformatics that will result in fundamental changes to clinical practice.
Promote diversity and inclusion in genomic research
Rare genetic diseases are not investigated in sub-Saharan Africa and their underlying genetic causes are predominantly unknown. The lack of diversity in human genetic studies is a drawback for understanding the risk of genetic diseases in other populations and designing treatments that can benefit all.
Enfermedades genéticas raras en Senegal (y África Occidental)
500
+
Patients with suspected rare diseases seen in clinic
200
+
Genetic tests performed
150
+
Precise diagnosis made
Our partners & collaborators
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