News & Views: Tag: Rare diseases

  In support of Rare Disease Awareness Month and Rare Disease Day, we are proud to share this article spotlighting hereditary angioedema (HAE), a rare and often misunderstood condition that can cause unpredictable and potentially life-threatening swelling episodes. At Porterhouse, we believe awareness is a critical step toward earlier diagnosis, better support, and improved outcomes …

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  Inherited blood disorders are a group of conditions that alter the production, structure or function of blood cells, often requiring coordinated long-term management of patients. Haemoglobinopathies represent a subgroup of inherited blood disorders characterised by genetic changes in the haemoglobin, a key protein in the blood responsible for oxygen transport. Sickle cell disease (SCD) and beta-thalassaemia are two …

Continue reading “Gene therapy in inherited blood disorders: A spotlight on sickle cell disease and beta‑thalassaemia”

At Porterhouse, we are proud to support World Amyloidosis Day.  Our article shines a light on this rare condition to help drive greater understanding, improve diagnosis, treatment, and care for those affected by the disease. Amyloid protein is well known for its association with conditions such as Alzheimer’s and Parkinson’s disease, but systemic amyloidosis is …

Continue reading “From Rare to Recognised: Shining a Light on Amyloidosis”

  This week, Partnership Development Director at Porterhouse Medical, Mark Walker, will be attending WORLDSymposium 2025. WORLD stands for We’re Organizing Research on Lysosomal Diseases and is an international research conference that attracts 1000s of participants from around the world, who meet to learn more about the latest discoveries related to lysosomal diseases and the …

Continue reading “Rare disease awareness: A spotlight on lysosomal storage disorders (LSDs)”

Overview There are an estimated 300 million people living with a rare disease and there are over 200 rare cancers globally. To raise awareness for those affected by these rare disorders and to support Rare Disease Day – 28 February 2022 – this article focusses on an extremely rare cancer known as pseudomyxoma peritonei (PMP). …

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  In support of the second ever Aicardi Syndrome Awareness Day, Porterhouse Medical is proud to share some vital information about the disease. Aicardi syndrome, which primarily affects females, is an extremely rare condition with an incidence of approximately 1 in 100,000 people [1]. Although the condition affects very few individuals, it is a devastating diagnosis; there is no …

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  Sickle cell disease (also called sickle cell anaemia) is a devastating inherited blood disorder, and patients who have it are categorised as ‘clinically extremely vulnerable’ to COVID-19 [1]. Although it is rare, sickle cell disease is the fastest growing genetic disorder in the UK [2], and there is an urgent need for increased awareness of the disease to help …

Continue reading “A spotlight on sickle cell disease: Raising awareness during the COVID-19 pandemic and beyond”

Although each rare disease affects less than 1 in 2,000 people, as a group rare diseases impact over 5% of the global population – that’s 300 million people! Our article looks at the challenges presented by these rare disorders.

We are delighted to congratulate Suzanne on her well-deserved promotion, and welcome her to the Porterhouse Medical Advisory Group.

To help raise awareness and understanding of these rare and often underdiagnosed diseases, Jon Hallows, Joint MD at Porterhouse shares his own experience as a parent of a son recently diagnosed with PANDAS

For PANDAS/PANS Awareness Day, we would like to help raise awareness and understanding of these often underdiagnosed diseases.

Porterhouse Medical looks at some of the opportunities and challenges presented by the rare disease market, and how successfully navigating the space requires a different approach to medical communications.