David O. Sillence is a Medical Geneticist based in Westmead, NSW 2145, Australia. He helps people and families understand rare genetic conditions, especially when the cause is unclear or the symptoms overlap. Genetics can be confusing, so the goal is to make the information clear and practical.
His clinic work often involves working out what might be behind issues such as abnormal growth, differences in bone and spine development, and changes in skin, hearing, or vision. In many cases, this includes conditions like osteogenesis imperfecta (fragile bones), achondroplasia and other short-stature or growth disorders, and syndromes that affect the face and structure of the body.
Some people see him because of problems that can involve the heart of everyday life, like scoliosis, osteoporosis, or differences in the way joints and bones form. Others may be dealing with features such as cleft palate, micrognathia, or craniofacial syndromes. At times, the concerns also link to organs and tissues beyond the bones, including bladder or gut-related issues seen with VACTERL association, or eye problems such as retinal detachment that can happen with certain genetic conditions like Stickler syndrome.
He also supports families when a diagnosis points to conditions such as Fabry disease, Wermer syndrome, mucolipidosis type 4, or acanthosis nigricans. Because these conditions are uncommon, having a clear genetic explanation can help families plan ahead, manage symptoms, and understand what might run in families.
In terms of experience, he works as a medical geneticist in clinical care and assessment, using genetic testing results to guide next steps. He is used to talking through results in a steady, down-to-earth way, including what a result might mean for the person now and in the future.
His education and training are in medical genetics, along with the usual medical knowledge needed to link genetics to real health problems. He stays up to date with new findings in genetics through ongoing learning, because this field keeps moving.
Research and clinical trials aren’t detailed here, but if trials or specialised studies could be relevant for a specific condition, he can help explain what options might exist and what to consider. If you’re unsure where to start, the first step is often making sense of symptoms and working out the best path to testing and diagnosis.