Skip to main content

LAM Research Alliance PhD Scholarship, Supported by the TSANZ & LFA

Project Member(s): Faiz, A.

Funding or Partner Organisation: Thoracic Society of Australia and New Zealand
Thoracic Society of Australia and New Zealand

Start year: 2024

Summary: Lymphangioleiomyomatosis (LAM) is a rare lung disease primarily affecting women of childbearing age with a few cases identified in males. LAM patients develop lesions in their kidneys, uterus and lungs, leading to progressive respiratory failure. There is no cure for the disease and the current treatment offered to LAM patients is the mTOR inhibitor Sirolimus (Rapamycin). This is because in LAM, mTOR 1C is known to be enhanced. Sirolimus has been proven to be therapeutic by stabilising lung function loss. LAM is caused by mutations in the TSC1 or TSC2 genes. The aim of the project is to: 1: Using sc-Seq on blood samples from LAM patients (n=6) and matching controls (n=6) to identify an effective blood biomarker marker to diagnose LAM. 2: Map the LAM cells to sc-Seq atlases of the human lung, kidney and uterus to determine the origin of circulating LAM cells.

FOR Codes: Respiratory diseases , Human diagnostics