Sandra Cooper

Professor Sandra Cooper is a neuroscientist and Professor at the University of Sydney, affiliated with the Children’s Hospital at Westmead. She holds an NHMRC Senior Research Fellowship and leads the translational Genomic Medicine Streams within the Kids Neuroscience Centre. Her research focuses on identifying genetic causes of rare neurological disorders, particularly neuromuscular and neurogenetic conditions. She co-heads a multidisciplinary team of over 100 researchers and has pioneered RNA diagnostics strategies like the SpliceACORD consortium.

Education: BSc (Hons) in Biochemistry (New Zealand), PhD in Neuroscience/Molecular Pharmacology (University College London), with postdoctoral training in Australia under Prof. Kathryn North.

Research interests span genomic medicine, splicing variants, and gene discovery. Key projects include advancing RNA diagnostics, developing pipelines for splice-altering variant detection, and studying PYROXD1’s role in myopathy. She teaches units on genetic splicing variants in the University of Sydney’s Genomics and Precision Medicine program.

Publications highlight breakthroughs in diagnosing neuromuscular disorders, RNA sequencing strategies, and understanding splicing variants’ impact. Awards include NHMRC Senior Research Fellowship and University of Sydney’s Elite Researcher Fellowship.

Her team has diagnosed 61% of Australasian families with genetic neuromuscular conditions and mentors early-career researchers, with graduates securing prestigious fellowships. Collaborations include the Broad Institute (MIT/Harvard) and Yale School of Medicine.

Labs/Teams: Co-heads Kids Neuroscience Centre, leads the Brain and Mind Centre’s genomic medicine initiatives, and oversees Kid’s NeuroBank biobanking program.