Projects
decoration

Establishing an in vivo humanised mouse model for telomere related bone marrow failure syndromes.

2019-2021 (Grant-in-Aid): Establishing an in vivo humanised mouse model for telomere related Bone Marrow Failure Syndromes. Professor Tracy Bryan, Children’s Medical Research Institute.

Human genetic information is packaged into discrete bundles (chromosomes) that have protective caps on their ends, known as ‘telomeres’. The integrity of telomeres is vitally important for cells to continue to divide. A subset of inherited Bone Marrow Failure Syndromes, known as Telomere Biology Disorders, are caused by mutations in genes that are responsible for protecting telomeres. In these patients, degraded telomeres lead to the premature death of cells in the bone marrow, resulting in bone marrow failure.

The goal of this study is to use the latest developments in gene editing of human bone marrow cells to establish a mouse model that closely mimics the disease process in human Telomere Biology Disorders. This model will be used for determining how particular patient mutations cause disease, thus providing a more precise molecular diagnosis for patients and their families, and for creation of a platform to test potential new gene therapy cures for this form of inherited bone marrow failure. 

Related Projects

Predicting malignant transformation of Bone Marrow Failure Syndromes using longitudinal targeted sequencing of peripheral blood and cell-free DNA (cfDNA).

2018-2020 (Grant-in-Aid): Predicting malignant transformation of Bone Marrow Failure Syndromes using longitudinal targeted sequencing of peripheral blood and cell-free DNA (cfDNA). Associate Professor Piers Blombery, Peter MacCallum Cancer ...

Read more

Using induced pluripotent stem cells to find causes and cures for bone marrow failure in children and young adults

2018-2023 (Grant-in-Aid): Using induced pluripotent stem cells to find causes and cures for bone marrow failure in children and young adults. Professor Andrew Elefanty, Murdoch Children’s Research Institute. Bone Marrow Failure Syndromes may be ...

Read more

Identifying therapeutics which can be repurposed for the treatment of Myelodysplastic Syndromes and other bone marrow failure disorders.

2018-2021 (Grant-in-Aid): Identifying therapeutics which can be repurposed for the treatment of Myelodysplastic Syndromes and other bone marrow failure disorders. Associate Professor Amee George, The Australian National University. There are ...

Read more

Outcomes of Haematopoietic Stem Cell Transplantation for Paediatric Patients with Severe Aplastic Anaemia (SAA) and Bone Marrow Failure (BMF) Syndromes.

2021-2022 (Grant-in-Aid): Outcomes of Haematopoietic Stem Cell Transplantation for Paediatric Patients with Severe Aplastic Anaemia (SAA) and Bone Marrow Failure (BMF) Syndromes. Dr Steven Keogh, Australasian Bone Marrow Transplant Recipient ...

Read more

Sign up to be the first to hear about our upcoming News & Events