Diana Stojanovski is a Geneticist based in Parkville, VIC, Australia. She looks after people and families who are dealing with inherited conditions. Genetic testing can be a big step, and it helps to have someone who can explain what the results might mean in plain, practical terms.
Her work often involves rare genetic syndromes and disorders. This can include conditions linked with the mitochondria, like Mitochondrial Complex V Deficiency. It can also include syndromes such as Mohr-Tranebjaerg Syndrome and Sengers Syndrome, where symptoms can affect more than one part of the body over time.
In many cases, she also helps with changes that show up from birth or early childhood. For example, that can include cataracts that are present early on, and different types of skeletal conditions. Names you may see in her work include Brachydactyly Mononen Type, Chondrodystrophy, and several spondyloepiphyseal and spondyloepimetaphyseal dysplasias.
There are also genetic conditions that affect growth and development. At times, families are trying to make sense of how a diagnosis fits with what they’ve noticed at home. Diana supports that process by guiding discussions around conditions like Schwartz-Jampel Syndrome and Spondyloepiphyseal Dysplasia Congenita, among others.
Some referrals are about blood health too. Fanconi Anemia and Congenital Aplastic Anemia are examples of conditions that can come with extra medical follow-up needs. Other referrals may focus on reproductive health, such as Premature Ovarian Failure, where genetic factors can be part of the story.
Diana’s clinic also deals with a range of eye and limb-related concerns, including Congenital Cataract and Cataract, as well as congenital patterns like Fanconi Anemia. Over time, she helps people understand what a diagnosis can mean for future health, and what questions might be worth asking next.
Research and clinical trials are not listed here, and the same goes for education details. What is clear is that she works in genetic medicine and supports families facing complex, inherited conditions, right here in Parkville.
