Dilated cardiomyopathy: a preventable presentation of DiGeorge Syndrome

Patients with cardiac failure require careful evaluation to determine the precise nature of the cause of their illness. Genetic causes of dilated cardiomyopathy are well known but inherited conditions may lead to unexpected consequences through intermediate mechanisms not readily recognised as a feature of the inherited disorder. We describe a case of dilated cardiomyopathy resulting from prolonged hypocalcaemia due to previously undiagnosed hypoparathyroidism resulting from DiGeorge Syndrome and describe the features of this case and the treatment of hypoparathyroidism.

Advances in the prevention and treatment of lung cancer

Lung cancer remains the most common fatal malignancy in the Western world. Survival rates have only improved modestly over the past three decades and new approaches are urgently required. It is clear that a concerted effort to reduce cigarette smoking is required. However, about 10% of patients with lung cancer are never smokers, indicating genetic or other predisposition. Lung cancer screening programmes are being trialled to target high-risk populations. Genetic strategies will provide new methods for screening and

Psoriasis

Psoriasis is a chronic, immune-mediated inflammatory skin disease
affecting 1.3–2.2% of the UK population.1 Most commonly, psoriasis is
characterised by well-demarcated, red plaques with adherent scale with a
predilection for the scalp and extensor surfaces of the limbs. However, the
effects of psoriasis go far beyond a patient’s skin and may result in a degree of
disability and impaired quality of life similar to that of other major medical
conditions, such as cancer and heart disease. First-line therapies for most

The future of genetics in everyday medicine

Genetics is a developing field that increasingly influences medical practice in a large number of specialties. This symposium highlighted how current research is providing insights into the genetic causes of disease, leading to a deeper understanding of the pathophysiology and identification of potential novel treatment strategies. We were provided with an overview of developments in monogenic conditions such as Marfan’s syndrome and Duchenne muscular dystrophy and complex traits such as atopic dermatitis.

Advances in the prevention and treatment of lung cancer

Lung cancer remains the most common fatal malignancy in the Western world. Survival rates have only improved modestly over the past three decades and new approaches are urgently required. It is clear that a concerted effort to reduce cigarette smoking is required. However, about 10% of patients with lung cancer are never smokers, indicating genetic or other predisposition. Lung cancer screening programmes are being trialled to target high-risk populations. Genetic strategies will provide new methods for screening and predicting response to treatment.

Genetic epidemiology

The field of genetic epidemiology has advanced considerably over the past decade. The falling costs of genome-wide association studies have allowed the identification of many common genetic variants associated with risk of illness. This has advanced the understanding of disease pathogenesis but has not led to widespread changes in care. As these studies have become more common, a framework for reporting findings in the literature has been developed to ensure clinicians can accurately interpret the research.