Hiroshi Nagashima is a geneticist based in Rundle Mall, Adelaide, SA 5000. He helps people and families understand health issues that can be linked to genes, including conditions that start from birth as well as ones that show up later in life.
Genetic problems can affect lots of different parts of the body. In many cases, care may be about figuring out what’s behind symptoms, helping with next steps, and making sure the right tests are done. This can be important for planning treatment and support, especially when there are inherited patterns in a family.
Some examples of conditions people may be assessed for include Marfan syndrome and pectus excavatum, Turner syndrome, and inherited immune disorders like severe combined immunodeficiency (SCID). There are also genetic muscle conditions such as Duchenne muscular dystrophy and Becker muscular dystrophy, plus nerve and movement-related conditions like amyotrophic lateral sclerosis (ALS).
There can be other types of genetic or metabolic issues too. For instance, Classic galactosemia, urea cycle disorders, and conditions that affect how the body handles sugars and waste products (such as galactokinase deficiency and galactose epimerase deficiency) may be part of the picture. At times, genetic factors can also relate to kidney or heart problems, including diabetic nephropathy and cardiomyopathy, as well as blood pressure issues like hypertension.
Hiroshi may also work through genetic links connected with nutrition and hormone changes, like maturity onset diabetes of the young, and liver or copper-related conditions such as Wilson disease. Some profiles include rare birth and growth differences (for example, micrognathia and tongue-related conditions), and there are even genetic-related cancer concerns like hairy cell leukaemia (HCL) and tongue cancer.
Details about experience, education, and any current research or clinical trials are not listed in this profile. If you’re looking for those specifics, it’s best to check with the practice directly or bring the questions you have to your first appointment.