post

Making it through the final stretch of a PhD in conservation genomics and bioinformatics

by Holly Nelson (PhD Student)

Entering the final stage of a PhD is both a marathon and a sprint. After a quick 3-4 years of terminal windows, countless hours coding, latex gloves, tweaking plots to the perfect shade of maroon (#B03060), and obsessing over a turtle species that lives a world away, the world could be ending, and honestly, I wouldn’t even know.

One surprising obsession? Table spacing. Somehow, this has become the hill I’m willing to die on. Not to mention after three and a half years into postgrad education, I still don’t know whether it should be a comma or a semicolon. Who knew this was the pinnacle of academic thought? Shout-out to my colleagues who don’t blink when I send them scripts named things like “goNe_analysis__fix6_final_FINAL_v10.pbs” (you know who you are), and to my long-suffering supervisors who’ve received my manuscript drafts entitled “Manuscript_turtle_final_DEFSFinal4_v12.docx.” And Andrea—my fellow PhDer-in-crime who has joined me on the adventure. There’s something comforting in having a fellow office mate who reaches a delusion level just as unhinged as yours.

Honestly, perspective is nearly impossible when your days blur together into one big troubleshooting session, often caused by a stray space somewhere in a 94-line code. But at the end of the day the completion of a PhD is less about perfection or about how many pages are in pdf document you’ve spent years creating, and more about progress. My folders and directories may look like a chaotic labyrinth, but hey, they’re a testament to something resembling progress—90% of it’s stuff that would’ve looked like rocket science to me a couple of years ago. It’s about stepping back, handing in, disappearing, and leaving the pandora’s box of questions you opened during your thesis for the poor Honours student.

To anyone on the journey, hang in there. Or don’t, drop out and open a bakery if you feel like it. Either way, you’re not alone in those late-night bursts of productivity, never ending imposter syndrome, praying that the laptop you’ve run into the ground turns on every morning, or that compulsive need to move the plot legend just 0.5mm more to the left.

You’re the world expert in whatever obscure and niche little thing it is you do, even if no one, including you, fully understands it. Hold onto the fact that your work probably means something, and if it doesn’t, well, at least it’s given you something to do for the last few years.

As my daily reminder sticky-note says “it’s not that serious”.

Bilby release

Holly Nelson (PhD Student) is working on how we can use genomics to revolutionise threatened species management. From genome assembly to downstream analyses using whole-genome data, Holly is using her work to answer genetic questions on the Bellinger River Snapping Turtle, Koala, and other threatened species. Her work, in partnership with the NSW Governments Saving Our Species program, aims to create more robust conservation strategies that can be developed and applied together with wildlife managers.

Bioactive components in the marsupial pouch and milk

Type: Journal article

Reference: Jayamanna Mohottige MW, Gardner CE, Nye-Wood MG, Farquharson KA, Juhász A, Belov K, Hogg CJ, Peel E, Colgrave ML. Bioactive components in the marsupial pouch and milk. Nutr Res Rev. 2024 Nov 18:1-12. doi: 10.1017/S0954422424000313.

Abstract

Marsupials give birth to immunologically naïve young after a relatively short gestation period compared with eutherians. Consequently, the joey relies significantly on maternal protection, which is the focus of the present review. The milk and the pouch environment are essential contributors to maternal protection for the healthy development of joeys. In this review, we discuss bioactive components found in the marsupial pouch and milk that form cornerstones of maternal protection. These bioactive components include immune cells, immunoglobulins, the S100 family of calcium-binding proteins, lysozymes, whey proteins, antimicrobial peptides and other immune proteins. Furthermore, we investigated the possibility of the presence of plurifunctional components in milk and pouches that are potentially bioactive. These compounds include caseins, vitamins and minerals, oligosaccharides, lipids and microRNAs. Where applicable, this review addresses variability in bioactive components during different phases of lactation, designed to fulfil the immunological needs of the growing pouch young. Yet, there are numerous additional research opportunities to pursue, including uncovering novel bioactive components and investigating their modes of action, dynamics, stability and ability to penetrate the gut epithelium to facilitate systemic effects.

The Amphibian Genomics Consortium: advancing genomic and genetic resources for amphibian research and conservation

Type: Journal article

Reference: Kosch, T.A., Torres-Sánchez, M., Liedtke, H.C. et al. The Amphibian Genomics Consortium: advancing genomic and genetic resources for amphibian research and conservation. BMC Genomics 25, 1025 (2024). https://doi.org/10.1186/s12864-024-10899-7

Abstract

Amphibians represent a diverse group of tetrapods, marked by deep divergence times between their three systematic orders and families. Studying amphibian biology through the genomics lens increases our understanding of the features of this animal class and that of other terrestrial vertebrates. The need for amphibian genomic resources is more urgent than ever due to the increasing threats to this group. Amphibians are one of the most imperiled taxonomic groups, with approximately 41% of species threatened with extinction due to habitat loss, changes in land use patterns, disease, climate change, and their synergistic effects. Amphibian genomic resources have provided a better understanding of ontogenetic diversity, tissue regeneration, diverse life history and reproductive modes, anti-predator strategies, and resilience and adaptive responses. They also serve as essential models for studying broad genomic traits, such as evolutionary genome expansions and contractions, as they exhibit the widest range of genome sizes among all animal taxa and possess multiple mechanisms of genetic sex determination. Despite these features, genome sequencing of amphibians has significantly lagged behind that of other vertebrates, primarily due to the challenges of assembling their large, repeat-rich genomes and the relative lack of societal support. The emergence of long-read sequencing technologies, combined with advanced molecular and computational techniques that improve scaffolding and reduce computational workloads, is now making it possible to address some of these challenges. To promote and accelerate the production and use of amphibian genomics research through international coordination and collaboration, we launched the Amphibian Genomics Consortium (AGC, https://mvs.unimelb.edu.au/amphibian-genomics-consortium) in early 2023. This burgeoning community already has more than 282 members from 41 countries. The AGC aims to leverage the diverse capabilities of its members to advance genomic resources for amphibians and bridge the implementation gap between biologists, bioinformaticians, and conservation practitioners. Here we evaluate the state of the field of amphibian genomics, highlight previous studies, present challenges to overcome, and call on the research and conservation communities to unite as part of the AGC to enable amphibian genomics research to “leap” to the next level.

Using bioinformatics to investigate functional diversity: a case study of MHC diversity in koalas

Type: Journal article

Reference: Silver LW, McLennan EA, Beaman J, da Silva KB, Timms P, Hogg CJ, Belov K. Using bioinformatics to investigate functional diversity: a case study of MHC diversity in koalas. Immunogenetics. 2024 Dec;76(5-6):381-395. doi: 10.1007/s00251-024-01356-6

Abstract

Conservation genomics can greatly improve conservation outcomes of threatened populations, including those impacted by disease. Understanding diversity within immune gene families, including the major histocompatibility complex (MHC) and toll-like receptors (TLR), is important due to the role they play in disease resilience and susceptibility. With recent advancements in sequencing technologies and bioinformatic tools, the cost of generating high-quality sequence data has significantly decreased and made it possible to investigate diversity across entire gene families in large numbers of individuals compared to investigating only a few genes or a few populations previously. Here, we use the koala as a case study for investigating functional diversity across populations. We utilised previous target enrichment data and 438 whole genomes to firstly, determine the level of sequencing depth required to investigate MHC diversity and, secondly, determine the current level of diversity in MHC genes in koala populations. We determined for low complexity, conserved genes such as TLR genes 10 × sequencing depth is sufficient to reliably genotype more than 90% of variants, whereas for complex genes such as the MHC greater than 20 × and preferably 30 × sequencing depth is required. We used whole genome data to identify 270 biallelic SNPs across 24 MHC genes as well as copy number variation (CNV) within class I and class II genes and conduct supertype analysis. Overall, we have provided a bioinformatic workflow for investigating variation in a complex immune gene family from whole genome sequencing data and determined current levels of diversity within koala MHC genes.

Building meaningful collaboration in conservation genetics and genomics

Type: Journal article

Reference: Shaw, R.E., Brockett, B., Pierson, J.C. et al. Building meaningful collaboration in conservation genetics and genomics. Conserv Genet 25, 1127–1145 (2024). https://doi.org/10.1007/s10592-024-01636-4

Abstract

Genetic diversity is the foundation of biodiversity, and preserving it is therefore fundamental to conservation practice. However, global conservation efforts face significant challenges integrating genetic and genomic approaches into applied management and policy. As collaborative partnerships are increasingly recognized as key components of successful conservation efforts, we explore their role and relevance in the Australian context, by engaging with key entities from across the conservation sector, including academia, botanic gardens, herbaria, seed banks, governmental/non-governmental organisations, private industry, museums, Traditional Owners, Indigenous rangers, and zoos and aquaria. By combining perspectives from these entities with comprehensive literature review, we identified five guiding principles for conservation genetic and genomic research and explored the different elements of, and approaches to, collaboration. Our reflections suggest that there is a substantial overlap in research interests across the Australian conservation sector, and our findings show that collaboration is increasing. We discuss approaches to building collaborative partnerships, the reciprocal benefits of collaborating, and some remaining challenges associated with data generation, data collection, and cross-cultural considerations. We emphasise the need for long-term national resourcing for sample and data storage and consistency in collecting, generating and reporting genetic data. While informed by the Australian experience, our goal is to support researchers and practitioners to foster meaningful collaborations that achieve measurable management outcomes in conservation genetics and genomics, both in Australia and globally.

A genomic framework to assist conservation breeding and translocation success: A case study of a critically endangered turtle

Type: Journal article

Reference: Nelson, H. V., Farquharson, K. A., Georges, A., McLennan, E. A., DeGabriel, J. L., Giese, M., Ormond, C., McFadden, M., Skidmore, A., Prangell, J., Belov, K., & Hogg, C. J. (2024). A genomic framework to assist conservation breeding and translocation success: A case study of a critically endangered turtle. Conservation Science and Practice, 6(10), e13204. https://doi.org/10.1111/csp2.13204

Abstract

Conservation breeding programs are an effective approach to addressing biodiversity loss. Captive populations are managed to maintain genetic diversity, yet there remains an “implementation gap” in effectively translating molecular genetic data into management. Technological advancements are facilitating rapid generation of genetic data, increasing accessibility for breeding programs. In 2010, Frankham and colleagues proposed a six-stage process for establishing successful conservation breeding and release programs. Here, we describe the conservation breeding program for the critically endangered Bellinger River turtle (Myuchelys georgesi) and characterize the value of genetic sampling for informing management actions. By generating a chromosome-level genome and population genetic data, we investigated past and present diversity and assessed relatedness among captive founders. We present a framework modeled on Frankham and colleagues six stages to assist managers in implementing genetic data into actionable conservation strategies. This framework, and worked case study, for managers aims to better guide implementation of genetic approaches into conservation breeding programs.

post

From Cardiff to Maria Island

by Matt Spadaro

When I first arrived in Sydney from the UK, I had no idea which project I would be doing. I found out on my first day that I’d be making a stud book for the Maria Island devils- a place and a species that I was, admittedly, totally ignorant towards. Upon learning more about the two, my interest only continued to grow; when Carolyn asked me to go to the island which I had been learning so much about, I jumped at the opportunity.

Once I arrived on Maria, I realised just how special of a place it is. 10 minutes into my time, I had already seen my first Wombat and I had to take a picture despite it being dark- I had no idea that I would experience hundreds of wombat sightings over the course of the week (see below for better photos than my first).

After, we got everything sorted and began baiting the traps in the dark for the next day (for more information on how to catch a devil, see Elle’s post titled “How to catch a Tasmanian devil”).

In the morning, the processing of the devils commenced. Weight, teeth measurements, head size, pouch state (if the individual was female), number of parasites and general body condition were all taken during this processing of recaptured animals. New animals had all the preceding measurements taken with the additional processes of taking of an ear biopsy, inserting a microchip, and giving the devil a name.

As this process is quite an extensive experience for the devils, I was expecting their demeanour to be far from calm, especially when considering their given name of “devil”. Therefore, I was quite surprised when all of the first devils that we caught and processed were seemingly calm (although in retrospect many of them were likely terrified). This wasn’t the case for all devils though, with a few showing jaw popping behaviours and the low growling noises which they are well known for. Despite these exceptions, the vast majority of the devils we caught and released on Maria Island were either scared or tired, making them very easy to process.

I learnt during this trip that devils, somewhat unsurprisingly, hate the noise of anything they don’t recognise. They don’t mind the noise of your voices when speaking but they find any noise of fabric rubbing together, clanking of buckets and the sound of the bristles on brushes when they’re being used very distressing. I also learnt that devils have been a victim of a degree of fake news- not all devils have the distinctive white markings that you see on the internet. Many of the devils we processed were completely black or almost completely black (see below photos).

After-thought-

If you’re considering visiting Australia from abroad and you’re interested in seeing wildlife and nature- go to Maria Island. Maria Island is teeming with wombats, Bennet’s wallabies, sea eagles, forester Kangaroos and more. It also has the most pristine air and ocean water of anywhere I’ve visited. The landscapes are incredible, you really cannot go wrong with a visit to this Island if you’re interested in the outdoors. 

Author

Matt Spadaro

Hijacking of N-fixing legume albumin-1 genes enables the cyclization and stabilization of defense peptides

Article: Journal article

Reference: Gilding, E.K., Jackson, M.A., Nguyen, L.T.T. et al. Hijacking of N-fixing legume albumin-1 genes enables the cyclization and stabilization of defense peptides. Nat Commun 15, 6565 (2024). https://doi.org/10.1038/s41467-024-50742-x

Abstract

The legume albumin-1 gene family, arising after nodulation, encodes linear a- and b-chain peptides for nutrient storage and defense. Intriguingly, in one prominent legume, Clitoria ternatea, the b-chains are replaced by domains producing ultra-stable cyclic peptides called cyclotides. The mechanism of this gene hijacking is until now unknown. Cyclotides require recruitment of ligase-type asparaginyl endopeptidases (AEPs) for maturation (cyclization), necessitating co-evolution of two gene families. Here we compare a chromosome-level C. ternatea genome with grain legumes to reveal an 8 to 40-fold expansion of the albumin-1 gene family, enabling the additional loci to undergo diversification. Iterative rounds of albumin-1 duplication and diversification create four albumin-1 enriched genomic islands encoding cyclotides, where they are physically grouped by similar pI and net charge values. We identify an ancestral hydrolytic AEP that exhibits neofunctionalization and multiple duplication events to yield two ligase-type AEPs. We propose cyclotides arise by convergence in C. ternatea where their presence enhances defense from biotic attack, thus increasing fitness compared to lineages with linear b-chains and ultimately driving the replacement of b-chains with cyclotides.

Extant and extinct bilby genomes combined with Indigenous knowledge improve conservation of a unique Australian marsupial

Type: Journal article

Reference: Hogg, C.J., Edwards, R.J., Farquharson, K.A. et al. Extant and extinct bilby genomes combined with Indigenous knowledge improve conservation of a unique Australian marsupial. Nat Ecol Evol 8, 1311–1326 (2024). https://doi.org/10.1038/s41559-024-02436-2

Abstract

Ninu (greater bilby, Macrotis lagotis) are desert-dwelling, culturally and ecologically important marsupials. In collaboration with Indigenous rangers and conservation managers, we generated the Ninu chromosome-level genome assembly (3.66 Gbp) and genome sequences for the extinct Yallara (lesser bilby, Macrotis leucura). We developed and tested a scat single-nucleotide polymorphism panel to inform current and future conservation actions, undertake ecological assessments and improve our understanding of Ninu genetic diversity in managed and wild populations. We also assessed the beneficial impact of translocations in the metapopulation (N = 363 Ninu). Resequenced genomes (temperate Ninu, 6; semi-arid Ninu, 6; and Yallara, 4) revealed two major population crashes during global cooling events for both species and differences in Ninu genes involved in anatomical and metabolic pathways. Despite their 45-year captive history, Ninu have fewer long runs of homozygosity than other larger mammals, which may be attributable to their boom–bust life history. Here we investigated the unique Ninu biology using 12 tissue transcriptomes revealing expression of all 115 conserved eutherian chorioallantoic placentation genes in the uterus, an XY1Y2 sex chromosome system and olfactory receptor gene expansions. Together, we demonstrate the holistic value of genomics in improving key conservation actions, understanding unique biological traits and developing tools for Indigenous rangers to monitor remote wild populations.

The future is here: an easy-to-use toolkit for integrating genetics into conservation management

Type: Journal article

Reference: Hogg, C.J., Farquharson, K.A., Brandies, P., Silver, L.W., Ottewell, K., McLennan, E.A., Richmond, S. and Belov, K. (2025), The future is here: an easy-to-use toolkit for integrating genetics into conservation management. Anim Conserv, 28: 93-103. https://doi.org/10.1111/acv.12971

Abstract

Over the past decade, the development of genetic and genomic tools for conservation management has come forward in leaps and bounds. Once considered a ‘nice to have’, genetic data are fast becoming an essential tool for informing and managing translocations. However, due to the complexity of the field, easily using genetic data for decision-making and monitoring remains beyond the reach of most managers and conservation biologists. In May 2020, we launched the Threatened Species Initiative (TSI), a programme designed to generate genomic resources for Australia’s threatened species. Critical to the project is not only the generation of reference genomes and population genetic data but an online toolkit for conservation managers. The toolkit is a ‘one stop shop’ from collecting samples, to generating and analysing genetic data, to an easily interpretable genetic management report. A series of workflows and pipelines have been developed, including the TSI Biodiversity Portal, that uses point and click web interfaces to easily transfer raw sequence data and assemble genomes, transcriptomes and soon population genetics for management decisions. Here we present how the current toolkit works and provide case study examples for how it is being used to inform translocations and the management of threatened species.