Targeted Single-Gene Testing: Indications in Inherited Disorders
Introduction Overview of Hereditary Diseases Hereditary diseases are disorders caused by pathogenic genetic variants that are transmitted from one generation to another. These conditions may follow autosomal dominant, autosomal recessive, or X-linked inheritance patterns, and they can affect individuals across the lifespan. Examples include metabolic disorders, haemoglobinopathies, neuromuscular diseases, and various cancer predisposition syndromes. The […]
De Novo Mutations: A Comprehensive Overview of Novel Genetic Variants
Introduction to de novo mutations In recent years, de novo mutations have become a central topic in modern genetics and biomedical research, particularly in the context of human disease and early development. The term de novo, derived from Latin meaning “from the beginning” or “anew”, is used to describe genetic changes that arise spontaneously in […]
Understanding Fragile X Syndrome
What is Fragile X Syndrome? Fragile X Syndrome is a complex genetic condition and holds the distinction of being the most common inherited cause of intellectual disability and the leading known genetic cause of autism spectrum disorder. It is a disorder that affects many aspects of a person’s life, particularly their cognitive abilities, behaviour, and […]
When Should You Consider Specialist Oncology Counselling?
Introduction to Oncology Counselling Oncology counselling is a specialised branch of genetic counselling that focuses on identifying and managing hereditary cancer risks in adults. Its primary aim is to provide individuals and families with clear, evidence-based guidance about their genetic predisposition to various cancers. Understanding one’s inherited risk is crucial, as it allows for early […]
Medication Side Effects: Why They Happen & How to Prevent Them
When we are prescribed a new treatment, we often focus on the hope of recovery. However, for many patients in the UK, that hope is quickly overshadowed by the onset of medication side effects. Whether it is a persistent headache, unexpected fatigue, or more severe complications, these reactions can significantly diminish our quality of life […]
Antidepressant Response & Genetics: Tailoring Depression Treatment
Introduction to Antidepressant Response Antidepressant response refers to the degree of clinical improvement observed in patients with depression following treatment with antidepressant medications. A positive antidepressant response is typically characterised by a significant reduction in depressive symptoms, improved daily functioning, and enhanced quality of life. However, achieving an optimal antidepressant response remains a major challenge […]
Cancer in the Family? Screening Brings Clarity and Peace of Mind
Introduction: When Cancer Runs in the Family Discovering cancer in the family can naturally raise questions about your own health and what it might mean for the future. A family history of cancer doesn’t automatically mean you’ll develop the disease yourself, but it can offer important clues about your level of risk. Understanding these patterns […]
DiGeorge Syndrome: What Every Family Should Know
Introduction DiGeorge Syndrome is a congenital disorder caused by a microdeletion on chromosome 22 at the 22q11.2 region. This deletion can lead to a wide spectrum of clinical manifestations, including congenital heart defects, immunodeficiency, developmental delays, and characteristic facial features. The syndrome affects approximately 1 in 4,000 live births, making it one of the more […]
Cystic Fibrosis: The Power of Early Genetic Detection
Cystic Fibrosis: The Power of Early Genetic Detection Introduction Cystic Fibrosis (CF) is one of the most common life-limiting autosomal recessive disorders, primarily affecting the respiratory and digestive systems. Over recent decades, significant scientific progress has led to improved survival rates and quality of life for individuals with CF. Yet despite these advancements, timely and […]
Type 1 and Type 2 Diabetes: How Genetics Shapes Your Care
Type 1 and Type 2 Diabetes: How Genetics Shapes Your Care Introduction Overview of Type 1 and Type 2 Diabetes Type 1 and Type 2 Diabetes are among the most prevalent chronic metabolic disorders globally. Type 1 Diabetes typically develops in childhood or adolescence and is characterised by autoimmune destruction of pancreatic β-cells, leading to […]
