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 a NZ Representative for ANZSCDB.
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!
Rosie is a senior Assistant Research Fellow, working in the lab since finishing her MSc in 2020. She is focusing on exploring the consequences of histone H4 variants on cell functions, supported by the Marsden Fund.
Rosie is instrumental in keeping the lab organised and running smoothly.
Rosie loves to travel and after exploring the savannah of Africa in 2023, is currently saving for her next big trip! While stuck in New Zealand Rosie loves to get outdoors, tramping, scuba diving, and exploring around Otago with her dog.
PhD Students
Meghan is a senior PhD student in the lab (submission 2024), supported by a University of Otago Doctoral Scholarship. Her PhD is focused 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.
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 looking forward to starting her PhD in the lab, supported by a University of Otago Doctoral Scholarship. She will be 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 looking forward to exploring Dunedin's stunning landscapes and beaches!
MSc Students
Mykilah is starting her MSc Research year in 2024, focused on characterising variants in a novel disease gene, which potentially causes a variety of medical features.
Mykilah is the amazing creator of our Lab Bingo game, a quick favourite for lab morning teas. Outside of the lab she enjoys spending quality time with friends, whether that being going to watch a good movie, having dinner or going for a walk in nature.
Summer / Honours Students
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 is studying protein interactions for histone H4, following on from our finding that variants in histone H4 cause a neurodevelopmental disorder.
In his spare time, Tira enjoys spending time with friends, reading and going to the movies.
Logan joined the lab for a summer studentship, supported by a Neurological Foundation of New Zealand Summer Studentship.
We are very happy Logan has stayed on in his lab for his BBiomedSci Hons project, where he is exploring protein consequences of variants in a chromatin remodelling factor, related to a genetic finding in a NZ family.
Outside of study, Logan likes to spend time outdoors through tramping and running as well as getting creative painting both murals and on canvas.
Jordan is joining the lab for a summer studentship supported by a Neurological Foundation of New Zealand Summer Studentship. He will be characterising variants in one of our novel disease genes, to help understand the role it may play in neurodevelopmental disorders.
Jordan is very keen to start developing a career in research in the context of human health and molecular biology, and is planning to continue with an Honours degree in 2025.
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.
Recent Alumni
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 has just completed her MSc, 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 spends her spare time taking dogs for beach walks.
Lauren has just submitted her MSc thesis, supported by a University of Otago Māori Masters Scholarship. Lauren is co-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 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.
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.