معرفی
Kristen Nowak is an Adjunct Associate Professor at the School of Biomedical Sciences, The University of Western Australia. Her research focuses on molecular genetics, neurological disorders, and neuromuscular diseases, with a particular emphasis on genetic screening and congenital myopathies. She contributes to the UN Sustainable Development Goals related to good health and well-being.
Her work involves collaborations on global genetic screening initiatives, such as DNACancerScreen, and she has been an investigator on over 30 grants, including NHMRC and ARC-funded projects. Notable projects include studies on spinal muscular atrophy epidemiology, population genomic screening, and familial hypercholesterolemia care models.
Recent research highlights include elucidating the genetic landscape of neuromuscular disorders, developing induced pluripotent stem cell models for nemaline myopathy, and investigating ethical implications of genetic risk communication. Her publications span clinical, genetic, and translational research in prestigious journals like *The Lancet Regional Health* and *Journal of Medical Genetics*.
Dr. Nowak’s contributions extend to policy development, such as the A-GLIMMER project addressing genetic testing in insurance, and public health initiatives to improve disease prevention through genomic screening.
