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Hereditary sensory and autonomic neuropathy type I (HSAN-1) is an autosomal dominant sensory neuropathy occurring secondary to mutations in the SPTLC1 and SPTLC2 genes. We present two generations of a single family with ...
DNA methylation involves the addition of a methyl group to the fifth carbon of the pyrimidine cytosine ring (5-methylcytosine, 5mC). 5mC is widespread in vertebrate genomes where it is predominantly found within CpG dinu...
Primary ovarian mucinous tumors can be difficult to distinguish from metastatic gastrointestinal neoplasms by histology alone. The expected immunoprofile of a suspected metastatic lower gastrointestinal tumor is CK7(-)/C...
The majority of patients with neuroblastoma due to MYCN oncogene amplification and consequent N-Myc oncoprotein over-expression die of the disease. Here our analyses of RNA sequencing data identify the long noncoding RNA...
We investigated the attitudes of intensive care physicians and genetics professionals towards rapid genomic testing in neonatal and paediatric intensive care units (NICU/PICU). A mixed-methods study (surveys and intervie...
Regulatory programs that control the function of stem cells are active in cancer and confer properties that promote progression and therapy resistance. However, the impact of a stem cell-like tumor phenotype ("stemness")...
Cutaneous squamous cell carcinoma from the head and neck typically metastasize to the lymph nodes of the neck and parotid glands. When a primary is not identified, they are difficult to distinguish from metastases of muc...
AIM: The role of germline testing in prostate cancer is evolving and knowledge of an individual's genetic profile may be used to guide not only an assessment of their familial risk but also have prognostic and therapeuti...
A newly identified brain pathway could be the key to activating more brown fat, and burning excess energy before it turns into harmful fat.
Garvan and CSIRO researchers have uncovered key differences underlying harmful and non-harmful fat.

Careers & studies

Sep 13, 2019 10:47 AM
This image sequence shows a biosensor made from the tiny fluorescent probes of jellyfish.

The Garvan-Weizmann Centre

Apr 10, 2018 03:01 PM
The Australian Young Cancer Patient Clinical Trials initiative has been granted $3.2 million by the Federal Government for four ground-breaking clinical trials, including the Garvan-led Australian Genomic Cancer Medicine...

A/Prof Sarah Kummerfeld

Apr 12, 2019 02:47 PM
Associate Professor Sarah Kummerfeld is the Scientific Head of the Kinghorn Centre for Clinical Genomics. She uses genomics to understand human disease and translate findings into clinical diagnostics and treatments. Sar...