Grappling with my daughter’s epilepsy diagnosis

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Enabling Genomic Medicine 2021

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Rare disease as a jigsaw - Timothy Syndrome

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Expanding our understanding of skeletal dysplasia

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Ensuring parents have a voice in their child’s care

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The long road to diagnosis: Pitt-Hopkins Syndrome

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Congenica announced as a finalist for MIT Solve’s Horizon Prize

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Living with a rare disease in perspective: Lynsey’s Rare Journey

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How we learnt about Menkes Syndrome

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Discovering Glut1 Deficiency Syndrome

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Diagnosing CALFAN syndrome after years of uncertainty

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Grappling with my daughter’s epilepsy diagnosis

Read More

Enabling Genomic Medicine 2021

Read More

Rare disease as a jigsaw - Timothy Syndrome

Read More

Expanding our understanding of skeletal dysplasia

Read More

Ensuring parents have a voice in their child’s care

Read More

The long road to diagnosis: Pitt-Hopkins Syndrome

Read More

Congenica announced as a finalist for MIT Solve’s Horizon Prize

Read More

Living with a rare disease in perspective: Lynsey’s Rare Journey

Read More

How we learnt about Menkes Syndrome

Read More

Discovering Glut1 Deficiency Syndrome

Read More

Diagnosing CALFAN syndrome after years of uncertainty

Read More