Rare Disease Day: Diagnosing and managing rare diseases

Feb 28 2022

Image: Ainsely and daughter Charleigh with Associate Professor Tracy-Dudding-Byth 

A rare disease is a condition with a prevalence of less than 1 in 2,000. Although individually rare, these conditions are collectively common. Rare Disease Day on 28 February raises awareness of the 7,000 rare diseases and brings the rare disease community together.  

There are many challenges faced by people living with a rare disease, including that diagnosis is typically slow and often inaccurate. Parents, families, and health professionals often feel isolated with limited information about prognosis, management, or best practices. Only 5% of rare diseases have adequate treatments, and funding for scientific research can be scarce.   

As a clinical geneticist, HMRI researcher Associate Professor Tracy Dudding-Byth is involved in diagnosing and managing individuals and families with rare diseases. She also has a child with a rare disease. In 2012, she proudly worked with a small group of parents to co-found Rare Voices Australia, our national advocacy group for rare diseases.  

Associate Professor Dudding-Byth is also the director of the NSW Genetics of Learning Disability service and is involved in the genetic diagnosis of children with moderate to severe intellectual disability (ID). Following advanced genetic testing, 50–70% of her patients remain undiagnosed, and there are an estimated 2,000 developmental disorder genes still to be discovered. Individuals with changes in the same ID gene often share similar facial features. Identifying two or more people with the same facial features allows researchers to compare their DNA codes and discover new genes. Currently, doctors rely on manual face-matching techniques such as remembering similar people or presenting photographs to colleagues at medical meetings.  

The International FaceMatch platform allows parents and doctors worldwide to upload images of both diagnosed and undiagnosed patients with a syndromic form of ID for facial matching using computer vision technology. Associate Professor Dudding Byth was also honoured with a 2021 Research Australia Health and Medical Data Innovation award for developing this first-of-a-kind platform.  

Tracy has recently received an MRFF grant to research another rare disease called NF1 and is launching the Neurofibromatosis type 1 (NF1) cutaneous neurofibroma consortium this week. NF1 causes brown skin marks (café au lait spots) and benign (non-cancer) growths around the nerves called neurofibromas. NF1 is the most common neurogenetic condition, affecting 1 in 2,500 people.  

Skin (cutaneous) neurofibromas are lumps in or under the skin. These skin lumps can cause distress for those affected, particularly if they appear in large numbers. It is difficult is knowing how many skin neurofibromas someone with NF1 will develop. We are researching why some people are mildly affected whereas others have many neurofibromas. We will be recruiting 2,000 adults with NF1 to understand how an individual’s genetic background affects the number of neurofibromas a person may develop.