Our mission is simple: to improve genetic health for whanau (families) with rare genetic disorders.
We are passionate about using our biology expertise to help others, however we can. Our goal is to provide insight through our molecular genetics research, furthering the understanding of what causes a genetic disorder in a family. This information brings knowledge, autonomy and mana to the family, and is the first step in any potential treatment in the future.
We are proud to produce robust scientific insight through our research. We are big on kindness, inclusivity, team work and appreciation of others. Science can be tough, so we support each other and work together to achieve our goals.
Louise heads up the Rare Disorder Genetics lab.
Louise is passionate about improving genetic health for families with a rare disorder.
Louise is also Co-Director of Genetics Otago, is on the HGSA NZ branch executive committee and is the NZ Principal Representative on the ERDERA Governing Board.
In her spare time, Louise enjoys spending time with her family, gardening and house renovations.
Staff
Sankalita is a postdoc in the lab, focusing on characterising patient variants and new roles in a novel disease gene, supported by the Marsden Fund.
Sankalita is also our zebrafish guru! She has established the use of this model to understand the developmental consequences of variants we have identified.
In her spare time, Sankalita likes to travel, savour the latest blockbusters (she's a certified movie buff!), and share her culinary escapades on her beloved cooking blog. Her passion for exploration extends beyond the microscope, making her an all-around adventurous spirit!
Meghan is soon to be a postdoc, after submtting her PhD at the end of 2024. Meghan will continue her focus on molecular mechanisms of neurodevelopmental disorders (NDDs), where she has combined both sequence analysis and molecular experiments to identify both novel variants and a novel NDD gene.
Meghan jokes she has no spare time, but does enjoy going for walks along the harbour.
PhD Students
Nihar is a PhD student in the lab, supported by the Marsden Fund. His project is studying the contributions of histone H4 N-terminal variants in cell functioning, and as risk alleles for NDDs. He has developed expertise in culturing of difficult-to-grow cell lines.
Nihar always brings delicious baking to our lab morning teas. Outside of the lab, Nihar enjoys gaming, anime and nature photography.
Emily is a PhD student in the lab, supported by a University of Otago Doctoral Scholarship.
Emily has found a love for data visualization and R, and so is combining both wet-lab experiments and bioinformatics to explore potential contributions of rare disorder variants in more common diseases.
Outside of the lab, Emily enjoys boardgames and painting.
Pragya started her PhD in June 2024, supported by a University of Otago Doctoral Scholarship. Her project is focused on one of our favourite genes, DONSON, and the different syndromes associated with this gene. She will be learning both wet-lab and bioinformatic skills.
Pragya is excited about exploring the local scenery of Dunedin!
Janaki is recently started her PhD in the lab, supported by a University of Otago Doctoral Scholarship. She is using zebrafish as a model to study the developmental effects related to a new disease gene we are focused on, as part of our latest Marsden grant.
Janaki enjoys hiking, exploring cafes and taking lots of photos, and is exploring Dunedin's stunning landscapes and beaches!
Summer / Honours Students
Jordan joined the lab for a summer studentship supported by a Neurological Foundation of New Zealand Summer Studentship.
To our delight, Jordan has stayed on for his Hons project in the lab, focusing on our histone H4 research. Jordan is very keen to developing a career in research in the context of human health and molecular biology.
When he's not busy in the lab, Jordan loves to travel the country playing ultimate frisbee and getting out for a run, and can often be found in whatever room has the most plants.
Ria has joined the lab for her Genetics Honours project, where she will be focusing on studying genetic alterations in a chromatin remodeling factor, looking at both consequences on splicing and protein-protein interactions.
When she is not busy in the lab, Ria enjoys seeking out views, whether it be a beach, a waterfall or the top of a mountain. She also loves curling up with a good book in the sun!
Recent Alumni
Rosie was a senior Assistant Research Fellow, working in the lab since finishing her MSc in 2020 and was instrumental in keeping the lab organised and running smoothly.
We are now living in a post-Rosie era as she moved to London to explore opportunities and do more traveling. Rosie now works as a research assistant in the Department of Diabetes and Obesity, at King's College London.
Tira joined the lab for a summer studentship, supported by a HRC Māori Health Research Summer Studentship.
To our delight, he has stayed on for his BSc Honours project, where he studied protein interactions for histone H4, following on from our finding that variants in histone H4 cause a neurodevelopmental disorder.
Tira is now undertaking a PhD with Professor Parry Guilford in the department.
Logan joined the lab for a summer studentship, supported by a Neurological Foundation of New Zealand Summer Studentship.
We were very happy that Logan stayed on in his lab for his BBiomedSci Hons project, where he explored protein consequences of variants in a chromatin remodelling factor, related to a genetic finding in a NZ family.
Logan is now exploring opportunities in Australia.
Mitchell recently finished his MSc, focused around exploring a peptide called OGP that is made from histone H4 mRNA, pioneering several new molecular assays in the lab. Mitchell was supported by a University of Otago Masters Scholarship.
Mitchell is keen to further his research career by undertaking a PhD in molecular biochemistry with a health focus.
Outside of the lab, Mitchell enjoys reading and spending time with friends.
Theresa completed her MSc with a Distinction, where she has been testing hypotheses for what makes a H4 variant pathogenic. Theresa makes advanced cloning look easy and has made some amazing multi-insert plasmids for her project. Theresa was supported by a University of Otago Masters Scholarship.
Theresa dreams to get to Antarctica one day, but in the meantime she is now working as a research technician in Professor Dario Alessi's lab at the University of Dundee.
Lauren completed her MSc thesis with a Distinction, supported by a University of Otago Māori Masters Scholarship. Lauren was supervised by A/Prof Heather Cunliffe, Department of Pathology, DSM.
Lauren's project focused on studying some of our favourite genes in a novel disease context.
In her spare time, Lauren is a gym bunny!
Mischa was an Assistant Research Fellow in the lab, supported by the Neurological Foundation of New Zealand.
Following completion of her MSc with Distinction in 2023, Mischa worked on several projects focused around novel disease genes the lab has discovered. Mischa uncovered a passion for protein modelling and happily spends time on pymol studying patient variants.
Outside of work, Mischa loves to stay active, hang out with friends, and go to the movies!
She now has an exciting job with Dove Press in Auckland.
Other Alumni
Mykilah O'Sullivan, MSc
We are always keen to hear from potential postgraduate students or postdocs - especially if you have your own funding! Email Louise for more information. Available PhD projects are often advertised on findaphd.com, but do reach out if you have your own ideas.