Rare Disease Day: Why Rare Matters
By Matt Burgess Today, February 28, on Rare Disease Day, we join millions of people around the world in recognising individuals and families affected by rare conditions. While each rare disease affects relatively few people, collectively they are far from rare. It is estimated that over 300 million people globally live with one of more […]
Genetic Conditions Explained: Maternal Effect Gene–Related Multilocus Imprinting Disturbances (MEG-MLID)
Maternal Effect Gene–Related Multilocus Imprinting Disturbances (MEG-MLID) are a rare and complex group of conditions that sit at the intersection of reproductive genetics and epigenetics. Although the name sounds technical, the underlying concept is both fascinating and clinically important: changes in genes carried by a mother can disrupt the “imprinting” of multiple genes in her […]
Genetic Conditions Explained: von Hippel–Lindau (VHL) Syndrome.
Von Hippel–Lindau (VHL) syndrome is a rare inherited condition that increases the risk of developing certain types of tumours and cysts throughout one’s lifetime. Although many of these tumours are benign (non-cancerous), some can be malignant and require careful monitoring and treatment. Early diagnosis through genetic testing and specialist surveillance can be life-saving. At Rosalind […]
Genetic Conditions Explained: X-Linked Acrogigantism (XLAG).
X-Linked Acrogigantism (XLAG) is a very rare genetic condition that causes excessive growth beginning in early childhood, often within the first few years of life. It is characterised by rapid linear growth, enlargement of hands and feet, and very high levels of growth hormone (GH). Early recognition and specialist care are essential, as untreated XLAG […]
Genetic Conditions Explained: Cleidocranial Dysplasia Spectrum Disorder
Cleidocranial Dysplasia Spectrum Disorder (often shortened to Cleidocranial Dysplasia or CCD) is a rare genetic condition that primarily affects the development of bones and teeth. While it can present with a recognisable set of features, the severity and combination of symptoms can vary widely from person to person which is why the term spectrum disorder […]
Genetic Conditions Explained: HYAL2 Deficiency
HYAL2 deficiency is an extremely rare genetic condition that affects early development, particularly the brain, skeleton, and connective tissues. Because it is so uncommon, many families experience a long and confusing diagnostic journey before receiving an answer. Advances in genomic testing are now making it possible to identify conditions like HYAL2 deficiency earlier and more […]
Genetic Conditions Explained: Osteopathia Striata with Cranial Sclerosis
Osteopathia Striata with Cranial Sclerosis (OSCS) is a rare genetic condition that affects the development, density, and structure of bones. While uncommon, OSCS is an important condition for clinicians and families to be aware of – particularly when encountering certain skeletal findings on imaging or when a child presents with developmental or craniofacial differences. At […]
Genetic Conditions Explained: Beta-Thalassemia
Beta-thalassemia is one of the most common inherited blood conditions worldwide, affecting thousands of people across Asia, the Mediterranean, the Middle East, and increasingly in multicultural countries like Australia and the UK. Despite its global impact, many individuals have never heard of it until it affects their family directly. This blog provides a clear overview […]
Genetic Conditions Explained: GNAI1-Related Neurodevelopmental Disorder.
GNAI1-related neurodevelopmental disorder is a rare genetic condition that affects how the brain grows, develops, and communicates. Although only a small number of cases have been described worldwide, awareness of this condition is increasing as access to genomic testing expands. At Rosalind Genetics, we support individuals and families seeking clarity, guidance, and compassionate counselling following […]
Genetic Conditions Explained: FOXP2-Related Speech and Language Disorder
Speech and language are fundamental to how we connect, learn, and express ourselves. For most children, these skills develop naturally, but for some, changes in our genetic make-up can significantly affect the ability to produce and understand speech. One of the best-known examples is FOXP2-related speech and language disorder, a rare condition caused by disease […]