James J. Pitt is a Medical Geneticist based in Melbourne, VIC, Australia. He works with families, GPs, and hospital teams to make sense of genetic test results and what they can mean for day-to-day care.
Genetic conditions can look very different from one person to the next. In many cases, the focus is on children, but adults are seen too. James helps when symptoms point to a gene issue, or when results are unclear and need a careful, practical explanation.
You might be referred with concerns like developmental differences, learning or behaviour challenges, or changes in movement and muscle tone. He also looks after families where there are ongoing neurological issues such as seizures (including absence seizures and tonic-clonic seizures), hypotonia, and conditions linked with brain metabolism and energy use.
Some referrals centre on the body’s chemistry. That can include inherited metabolic conditions like urea cycle disorders, Methylmalonic Acidaemia, Orotic Aciduria Type 1, and Primary Hyperoxaluria, which can be connected to kidney problems and kidney stones. Hormone and growth-related problems also come up, such as congenital hypothyroidism, congenital adrenal hyperplasia (CAH), and Addison’s disease, along with issues like high potassium or low sodium.
Immune and rare multi-system conditions are part of the picture as well. For example, he may be involved when there are signs of immune problems linked to the absence of the thymus, or when symptoms fit conditions like Adrenoleukodystrophy (ALD) or Leigh syndrome. There are also genetic syndromes such as Angelman syndrome, Prader-Willi syndrome, and Smith-Lemli-Opitz syndrome that can need support from the start.
James’ training is built around how genes affect health, and how to turn test results into clear next steps. He stays up to date with new research so care can match what is currently known. At times, care planning can include talking about clinical trial options when they are relevant and available, but this depends on the specific diagnosis and situation.