Sofia Hassiotis

Medical Geneticist

Female📍 Adelaide

About of Sofia Hassiotis

Sofia Hassiotis is a Medical Geneticist based in North Terrace, Adelaide, SA, Australia. She looks after families dealing with inherited conditions, where getting the right answers early can make a real difference.


In many cases, people come with concerns about how symptoms have changed over time, or they’ve been told a condition might be “genetic”, but they’re not sure what that means. Sofia helps sort through the details in a calm, practical way. This can include conditions that affect the brain and the way the body works, and conditions that are passed down through families.


Her work includes supporting people with mucopolysaccharidoses (MPS) and related conditions. For example, this can include MPS Type 3, also known as Sanfilippo Syndrome, including MPS IIIA. She also works with families affected by other inherited lysosomal conditions such as Tay-Sachs Disease, Sandhoff Disease, and multiple sulfatase deficiency.


Sofia also supports patients where genes may play a part in memory and thinking problems. This can include Alzheimer’s disease and other forms of dementia. At times, families are looking for clarity after years of different tests, or they want to understand what future could look like. While every situation is different, the goal is usually the same: to make sense of the cause, and what options might be available next.


Because these conditions can be complex, care often needs careful coordination. Sofia’s role as a Medical Geneticist is to bring genetics into the picture, explain what the results can mean in everyday language, and help families plan for what comes next.


Her training in medical genetics helps her explain inherited changes and how they can affect health. Over time, that steady experience with rare and hard-to-diagnose conditions can help families feel more grounded, even when the answers are challenging.


If you’re in Adelaide or the wider South Australia area, you can meet with Sofia at her North Terrace practice. She focuses on understanding the medical story, supporting patients and families through genetic testing discussions, and working out the next steps in a clear and respectful way.

Services & Conditions Treated

Mucopolysaccharidosis Type 3 (MPS III, Sanfilippo Syndrome)Mucopolysaccharidosis Type 3A (MPS IIIA, Sanfilippo Syndrome A)Tay-Sachs DiseaseAlzheimer's DiseaseDementiaGangliosidosisMucopolysaccharidoses (MPS)Multiple Sulfatase DeficiencySandhoff Disease

Publications

1 total

Filipin complex-reactive brain lesions: a cautionary tale.

Neuropathology and applied neurobiology • September 27, 2023

Frequently Asked Questions

What services do you offer?
I focus on medical genetics and related conditions, including Mucopolysaccharidoses (MPS), MPS types 3 and 3A, Sandhoff disease, Tay-Sachs disease, gangliosidoses, multiple sulfatase deficiency, and Alzheimer's and other forms of dementia.
Which conditions do you specialise in diagnosing or advising on?
I work with conditions such as Sanfilippo syndrome (MPS III and MPS IIIA), Tay-Sachs disease, Sandhoff disease, other mucopolysaccharidoses (MPS), and related neurodegenerative disorders.
Where are you based for consultations?
I practice in North Terrace, Adelaide, South Australia.
Who would benefit from seeing a medical geneticist like you?
Patients or families with suspected genetic or inherited conditions, developmental concerns, or a need for genetic testing guidance related to the listed conditions may benefit.
What can families expect from a genetic consultation?
We review medical and family history, discuss possible genetic testing options, and talk about what the results might mean for management and family planning.
Do you provide information in relation to dementia and Alzheimer's disease?
Yes, I offer guidance related to Alzheimer's disease and other forms of dementia as part of my genetics-focused practice.

Contact Information

North Terrace, Adelaide, SA, Australia

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