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Laura Steinbusch, MSc, MBA
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Laura Steinbusch is a laboratory specialist in biochemical genetics focusing on inherited metabolic diseases with research interests in integrative physiology, metabolomics, fluxomics, diabetes, neuroscience and eye diseases. Laura produces and fundraises for books for blind children and is an ambassador for Sofia Sees Hope.
Eye Conditions and Syndromes, Visual Impairment
My child has LCA and presses her eyes. Is this normal? What can we do about it?
If your blind child is pressing or poking their eyes you may be looking for information on why they are doing this and what you can do to help them...
Eye Conditions and Syndromes
The Science Behind an Upcoming Treatment for LCA10/LCA-CEP290
A doctor in the Netherlands is developing a treatment for LCA that could help patients with the CEP290 mutation.
Eye Conditions and Syndromes
CEP290 in LCA and other Ciliopathies
Mutations in the CEP290 gene are linked to many different ciliopathies (disease of the cilia), like LCA, Joubert Syndrome, Meckel syndrome, Bardet-Biedl syndrome and more.