Marie A. Shaw is a Geneticist based in Adelaide, SA, Australia. She works with individuals and families who are dealing with health issues that can run in families, or that need genetic testing to make sense of what’s going on.
In many cases, people see a geneticist when there are complex symptoms spread across different parts of the body. Marie’s work covers conditions linked to epilepsy, including epilepsy in children and autosomal dominant partial epilepsy with auditory features. She also looks at families where fragile X and other chromosome-related conditions may be part of the picture.
Genetics can also help explain brain development differences and movement concerns. That might include cortical dysplasia, hydrocephalus due to congenital stenosis of the aqueduct of Sylvius, and microcephaly or increased head circumference. At times, families may also be exploring spastic paraplegia type 2, type 7, or type 11, plus other nervous system conditions.
Marie also supports people with hearing and communication challenges. This can include hearing loss and deafness hypogonadism syndrome, as well as autism spectrum disorder. Some referrals are about growth and development too, such as delayed growth and other broader developmental differences.
Other areas she commonly works with are craniofacial and skeletal conditions, like Crouzon syndrome and Treacher Collins syndrome, along with conditions that affect the face and body shape. She also looks after people with sex development differences, including 46XX testicular disorder of sex development, and conditions that affect the gut such as achalasia microcephaly syndrome. In some cases, the focus may be on trouble feeding or swallowing, or on managing symptoms across childhood.
Her education, research details, and any clinical trials are not listed here. What is clear is that she focuses on understanding genetic causes, so families can get clearer answers and plan next steps with their other health professionals.