We have a lengthy track record of studying Meier-Gorlin syndrome, primordial dwarfism, and conditions linked to the early stages of DNA replication.

We study novel variants, novel genes, and collaborate with world experts to understand the consequences to DNA replication and organism development.

We welcome enquiries about new patients, new variants, and new genes to study - please email Louise.

We are gene hunters at heart! We search and characterise genes that impact brain development, with a focus on families from Aotearoa New Zealand.

Our goals are to link alterations in our genetic code with disease to help provide answers for families. 

We use a variety of cellular and computational techniques to explore new variants and genes.

Following our discovery, in collaboration with A/Professor Gijs van Haaften, Utrecht Medical Center, that variants in histone H4 cause a neurodevelopmental disorder, we are exploring a variety of questions to better understand H4 biology.

How are the variants impacting on transcription, DNA replication and genome fidelity?

What H4 genes cause disease and why?

How might we explain the non-neurological features in patients with a H4-related disorder?

We are in awe of the biological power of the rare genetic alterations we study, and their ability to dramatically alter someone's health during development and their lifetime.

Can we harness this energy to better understand the genetic contribution of more genetically complex disorders? We are using large biobanks to ask such questions.