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The point was never the variant

What happens when the discovery isn't new, but the system is? This case report shows that rare disease genomic diagnosis can be completed entirely in South Africa, providing local evidence for the future of genomic medicine.

World map of ClinVar variant submission by country

From Clinic to ClinVar: The journey through variant curation

For many people, the image of a genetic counsellor is someone sitting in a clinic room, helping families understand a diagnosis but increasingly, genetic counselling is extending far beyond clinic walls.

Finding a Way Through Rare Disease

Rare diseases are described as “rare” in theory; in reality, they are lived daily, repeatedly and often in isolation. For many, this translates into healthcare fragmentation; long diagnostic journeys, unclear referrals...

Standing Up for the Unseen — Creating Connection in the Rare Disease Community

At Rare Diseases South Africa (RDSA), our work is rooted in a simple belief: every person deserves a diagnosis, a community and a chance at a full and supported life.

A woman in a white coat staring at floating numbers infront of her

What is Clinical Omics and Informatics?

Decoding Africa's genetic diversity to transform healthcare—where cutting-edge omics meets informatics to deliver precision medicine that reflects our populations and redefines our future.

Patients as Partners in Research: “That’s Just the Disease”

Diagnosed with SMA 25 years ago, I rejected "that's just the disease" to become a patient-partner in research. True collaboration values all lived experience, not just "exceptional" patients—transforming medicine through shared knowledge.

Global vs Local Ancestry: Reading the Map vs Zooming into the Streets

Global ancestry shows the big picture—your overall heritage. Local ancestry zooms in, revealing which parts of your genome come from specific ancestral backgrounds, crucial for understanding disease risk in admixed populations.

The personal side of Genomics

A reflection on genomics as biological memory. Genetic counselling translates DNA's complex language - through pre-test discussions, variant interpretation, and shared understanding - helping people find meaning in their genes.

The point was never the variant

What happens when the discovery isn't new, but the system is? This case report shows that rare disease genomic diagnosis can be completed entirely in South Africa, providing local evidence for the future of genomic medicine.

What is Clinical Omics and Informatics?

Decoding Africa's genetic diversity to transform healthcare—where cutting-edge omics meets informatics to deliver precision medicine that reflects our populations and redefines our future.

The point was never the variant

What happens when the discovery isn't new, but the system is? This case report shows that rare disease genomic diagnosis can be completed entirely in South Africa, providing local evidence for the future of genomic medicine.

What is Clinical Omics and Informatics?

Decoding Africa's genetic diversity to transform healthcare—where cutting-edge omics meets informatics to deliver precision medicine that reflects our populations and redefines our future.

Global vs Local Ancestry: Reading the Map vs Zooming into the Streets

Global ancestry shows the big picture—your overall heritage. Local ancestry zooms in, revealing which parts of your genome come from specific ancestral backgrounds, crucial for understanding disease risk in admixed populations.

The point was never the variant

What happens when the discovery isn't new, but the system is? This case report shows that rare disease genomic diagnosis can be completed entirely in South Africa, providing local evidence for the future of genomic medicine.

From Clinic to ClinVar: The journey through variant curation

For many people, the image of a genetic counsellor is someone sitting in a clinic room, helping families understand a diagnosis but increasingly, genetic counselling is extending far beyond clinic walls.

Finding a Way Through Rare Disease

Rare diseases are described as “rare” in theory; in reality, they are lived daily, repeatedly and often in isolation. For many, this translates into healthcare fragmentation; long diagnostic journeys, unclear referrals...

Standing Up for the Unseen — Creating Connection in the Rare Disease Community

At Rare Diseases South Africa (RDSA), our work is rooted in a simple belief: every person deserves a diagnosis, a community and a chance at a full and supported life.

Patients as Partners in Research: “That’s Just the Disease”

Diagnosed with SMA 25 years ago, I rejected "that's just the disease" to become a patient-partner in research. True collaboration values all lived experience, not just "exceptional" patients—transforming medicine through shared knowledge.

The personal side of Genomics

A reflection on genomics as biological memory. Genetic counselling translates DNA's complex language - through pre-test discussions, variant interpretation, and shared understanding - helping people find meaning in their genes.

Global vs Local Ancestry: Reading the Map vs Zooming into the Streets

Global ancestry shows the big picture—your overall heritage. Local ancestry zooms in, revealing which parts of your genome come from specific ancestral backgrounds, crucial for understanding disease risk in admixed populations.

Finding a Way Through Rare Disease

Rare diseases are described as “rare” in theory; in reality, they are lived daily, repeatedly and often in isolation. For many, this translates into healthcare fragmentation; long diagnostic journeys, unclear referrals...

Patients as Partners in Research: “That’s Just the Disease”

Diagnosed with SMA 25 years ago, I rejected "that's just the disease" to become a patient-partner in research. True collaboration values all lived experience, not just "exceptional" patients—transforming medicine through shared knowledge.

The point was never the variant

What happens when the discovery isn't new, but the system is? This case report shows that rare disease genomic diagnosis can be completed entirely in South Africa, providing local evidence for the future of genomic medicine.

From Clinic to ClinVar: The journey through variant curation

For many people, the image of a genetic counsellor is someone sitting in a clinic room, helping families understand a diagnosis but increasingly, genetic counselling is extending far beyond clinic walls.

Finding a Way Through Rare Disease

Rare diseases are described as “rare” in theory; in reality, they are lived daily, repeatedly and often in isolation. For many, this translates into healthcare fragmentation; long diagnostic journeys, unclear referrals...

Standing Up for the Unseen — Creating Connection in the Rare Disease Community

At Rare Diseases South Africa (RDSA), our work is rooted in a simple belief: every person deserves a diagnosis, a community and a chance at a full and supported life.

The personal side of Genomics

A reflection on genomics as biological memory. Genetic counselling translates DNA's complex language - through pre-test discussions, variant interpretation, and shared understanding - helping people find meaning in their genes.

The point was never the variant

What happens when the discovery isn't new, but the system is? This case report shows that rare disease genomic diagnosis can be completed entirely in South Africa, providing local evidence for the future of genomic medicine.

Standing Up for the Unseen — Creating Connection in the Rare Disease Community

At Rare Diseases South Africa (RDSA), our work is rooted in a simple belief: every person deserves a diagnosis, a community and a chance at a full and supported life.

What is Clinical Omics and Informatics?

Decoding Africa's genetic diversity to transform healthcare—where cutting-edge omics meets informatics to deliver precision medicine that reflects our populations and redefines our future.

The personal side of Genomics

A reflection on genomics as biological memory. Genetic counselling translates DNA's complex language - through pre-test discussions, variant interpretation, and shared understanding - helping people find meaning in their genes.