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Disease Modeling

Worming into Relevance – Human disease models in the C. elegans nematode

The philosopher Friedrich Nietzsche once said: “You have evolved from worm to man, but much within you is still worm.” Genetic diversity in individuals and between species is responsible for bewildering variability and biological niche adaptation of life, yet much of the essential genes involved in disease presentation are highly conserved from yeast to humans. …

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KCNQ2 epilepsy gene

Functional analysis of variants to aid understanding of children’s epilepsy

Performing sequence analysis on a patient with a suspected genetic disease is becoming a standard of care. However, when a genetic variation is identified as pathogenic in a disease state, clinicians and patients are faced with making difficult care decisions. NemaMetrix has developed a platform that allows us to undertake functional analysis of variants to …

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KCNQ2 Cures Summit – Patient Family Passion and Involvement

The passion to find answers is inspiring. I had the good fortune to attend the KCNQ2 Cure Summit 2018. Meeting the patient families and seeing their passion to find answers, brings meaning and urgency to the work I have been doing to develop high-throughput drug screening platforms. What can we do to help these families? …

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Worming into Relevance – Human disease models in the C. elegans nematode

The philosopher Friedrich Nietzsche once said: “You have evolved from worm to man, but much within you is still worm.” Genetic diversity in individuals and between species is responsible for bewildering variability and biological niche adaptation of life, yet much of the essential genes involved in disease presentation are highly conserved from yeast to humans. …

Worming into Relevance – Human disease models in the C. elegans nematode Read More »

Deciphering Breast Cancer with C. elegans – A Case Study

In recent years, the nematode C. elegans has emerged as a model for systematic dissection of the molecular basis of tumorigenesis. Many cancer genes and pathways are highly conserved and often easier to parse in C. elegans as the gene families involved contain fewer members, reducing genetic redundancy. This case study illustrates how C. elegans were used to decipher breast cancer. 

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