Lab News

February 2025: A very warm welcome to Janaki as she settles in to her PhD. Janaki is from Kathmandu in Nepal, and will be co-supervised by Professor Julia Horsfield as she explores orc3 in zebrafish. Welcome Janaki, we are excited for you to join us!

February 2025: Nihar and Sankalita attended Lorne Genome, where they both presented posters on their research. We thank the Maurice and Phyllis Paykel Trust for supporting Sankalita to attend, and the University of Otago for helping fund Nihar's travel costs.

January 2025: A massive congratulations to Meghan for submitting her PhD - what an achievement!

November 2024: Congratulations to Tira, Logan and Jordan as they graduate! Louise was very privileged to be able to join you in the parade and watch from on-stage as you were capped! We are all excited for your next adventures, with Jordan staying on for 2025!

November 2024: Congratulations to Nihar, who was successful in gaining funding from the Maurice and Phyllis Paykel Trust to support his molecular studies on H4. Thank you to the Trust for their support!

October 2024: We are excited to welcome Jordan Doran to the lab for his summer project, where he will be investigating some unexpected genetic alterations in one of our new disease genes. Jordan will be supported by a Neurological Foundation Summer Scholarship - we thank the Foundation for their ongoing support!

October 2024: Louise has been nominated by MBIE to be the Principal New Zealand Representative on the ERDERA Governing Board, where we can help decide and influence strategic decisions for the consortium. The first meeting will be in Paris at the end of October - Louise is very grateful for support by the School of Biomedical Sciences to attend this meeting.

September 2024: We are excited to announce our involvement with ERDERA - the European Rare Diseases Research Alliance. Louise has led efforts for the University of Otago to become a partner in this significant consortium, where we are the only group from New Zealand. For more information, see the link above.

August 2024: Louise travelled to Invercargill to present at the local U3A meeting, teaching the large audience about genetics and sharing some of our research. Thank you U3A members for the invitation, Louise had a wonderful time!

July 2024: Congratulations to Meghan, who has been successful in obtaining a Small Project Grant from the Neurological Foundation of New Zealand, to continue to explore some novel molecular biology aspects of the gene she has been working on during her PhD. Congrats Meghan, and thank you to the Neurological Foundation for their ongoing support!

July 2024: Welcome to Janaki Ghatane, who will be joining the lab to undertake a PhD, supported by a highly competitive University of Otago Doctoral Scholarship. Janaki is joining us from Nepal, and she will be focused on using zebrafish as a model to explore a novel disease gene, as part of our recent Marsden grant. Janaki will be so-supervised by Professor Julia Horsfield (Department of Pathology). We look forward to your arrival Janaki!

June 2024: Louise recently attended the European Society of Human Genetics Annual Meeting in Berlin, where she presented one of the big projects we have on the go in the lab - a new disease gene we have discovered that is associated with severe reduction in brain size. Louise was able to spend time with lots of collaborators, so a very worthwhile trip. Thanks to Neurological Foundation of New Zealand for their support with travel costs.

June 2024: We are delighted for Pragya to have arrived and get started on her PhD, after a patient wait for a visa. Welcome Pragya, we are delighted to have you!

May 2024: We have been very happy to contribute a NZ patient to a paper describing variants in the gene MSL2, as part of Meghan's PhD project. An answer for another NZ family! The paper has been published in AJHG.

April 2024: Congratulations to Lauren, who is co-supervised with Associate Professor Heather Cunliffe (Department of Pathology), for submitting her MSc thesis! We look forward to seeing your next adventure Lauren!

April 2024: We have said a sad farewell to Mischa, who leaves us to take on a job with Dove Press in Auckland. We are really excited to see her find a path she is passionate about, but will all miss her so much!

March 2024: Congratulations to Tira, who is undertaking his Honours project in the lab. Tira has been awarded a School of Biomedical Sciences Māori Postgraduate Scholarship! 

March 2024: Congratulations to Theresa, who has submitted her MSc thesis. Well done Theresa! We are excited to follow your future plans!

March 2024: Our latest paper is now  online, where together with multiple international collaborators, we describe a second cluster of variants in CDC45 that impact exon skipping. Well done to Mischa and Bridget (alumnus of the lab), and thank you so much to the families who were involved in this research! You can view the paper here!

March 2024: Congratulations to Mitchell, who has submitted his MSc thesis. Go Mitchell! We are excited to see what you accomplish next!

February 2024: We celebrated Rare Disorder Day, 29th Feb, and with other researchers, appeared in the local paper, the ODT. Every day, family by family, we search for answers for families with a rare disorder!

February 2024: We were delighted to host a visit from Alison and Sarah Broad, whose family trust has supposed us for several years via the Neurological Foundation of New Zealand funding. Being able to share the impact our research can make is always rewarding, and reinforces our commitment to the families we study.

December 2023: We are very appreciative to have been awarded funding from the Neurological Foundation of New Zealand. This will enable us to continue studying New Zealand families with neurodevelopmental disorders for the next few years.

December 2023: Congratulations to Sankalita (PhD), Mischa (MSc) and Tira (BSc) on their graduations - it was a privilege to join you on the stage!

November 2023: Welcome to Pragya Bradu as a PhD student in the lab. Pragya has been successful in securing a highly competitive Doctoral Scholarship from the University of Otago, and will be joining us in early 2024. Pragya will be co-supervised in her PhD by A/Prof Liz Ledgerwood and Dr Matthias Fellner.

November 2023: Welcome to Tira McLachlan and Logan Dennis as they start summer projects in the lab. Tira is supported by a HRC Māori Summer Scholarship, while Logan is supported by a Neurological Foundation of New Zealand Summer Scholarship. Thank you both funders, we appreciate your support!

November 2023: A new paper from the lab is now online: "A novel KNL1 intronic splicing variant likely destabilizes the KMN complex, causing primary microcephaly". We are delighted to have worked with Ana Krepischi and colleagues from the Human Genome and Stem Cell Research Center, Institute of Biosciences, University of São Paulo, Brazil, to confirm the pathogenicity of a novel variant in KNL1. DOI: 10.1002/ajmg.a.63468 (PMID: 37937525)

November 2023: We are stoked to have been successful in securing Marsden funding to study variants causing a novel genetic disorder, and what moonlighting roles this protein might have. This grant is in collaboration with Professor Steph Hughes (Dept of Biochemistry) and Professor Julia Horsfield (Department of Pathology) - as one reviewer described us "a dream-team of researchers"!