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Inherited retinal disorders (IRDs) are a diverse group of genetic eye conditions that impact millions worldwide, affecting light-sensitive cells in the retina and leading to vision impairment. Our latest report, "Inherited retinal Disorders: A primer," explores these conditions, their prevalence, the genetics behind them, and current treatment options.
In the latest episode of The Genetics Podcast, Patrick welcomes back Dr. Veera Rajagopal, a drug discovery scientist at Regeneron, for his quarterly discussion about the latest breakthroughs in genetic research. Together, they take a close look at some of the most exciting papers from the past few months, focusing on evolutionary genetics, structural variants, and new research into disease mechanisms.
Inherited retinal diseases (IRDs) are a leading cause of genetic vision loss, yet they remain difficult to identify and diagnose. Genetic testing plays a pivotal role in identifying the underlying causes, opening the door to timely treatment and improved patient outcomes. Here, we explore key barriers to diagnosing IRDs and the importance of early genetic screening in managing these rare conditions.
LONDON – 22 October 2024: Sano Genetics, the UK-based precision medicine company accelerating precision medicine clinical trials, has been named as one of Bloomberg’s Startups to Watch 2024. This latest recognition highlights the business’s significant growth and impact improving access to clinical trials and precision medicine.
Over 350 hereditary eye conditions are currently known, collectively affecting around one in every 1,000 people globally. These genetic disorders can influence various parts of the eye, such as the cornea, lens, retina, and optic nerve. Though they differ in their symptoms and severity, they all face a shared challenge: the critical need for early, precise diagnosis and tailored treatments.
In the latest episode of The Genetics Podcast, host Patrick Short interviews Mark Taylor, Head of Strategic Partnerships at the National Institute for Health and Care Research (NIHR) in the UK. During their conversation, Mark offers insights from his dual perspective as a leader in health research and as someone living with multiple sclerosis (MS). They discuss advancements in healthcare, the barriers to introducing new technologies into the National Health Service (NHS), and how engaging with underrepresented communities will shape the future of medical research.
Genetic eye diseases present significant challenges for patients and healthcare providers alike. Conditions like retinitis pigmentosa, Stargardt disease, and Leber Congenital Amaurosis (LCA) can lead to progressive vision loss, but with ongoing advancements in genetic research, there is growing hope for earlier diagnosis and more targeted therapies.
A new partnership announced today will offer seamless, end-to-end solutions that will drive progress in both patient care and research outcomes in inherited retinal diseases (IRD).
Chronic Kidney Disease (CKD) is a major health concern that impacts millions of people worldwide. While there are environmental and lifestyle factors that increase a person's risk of developing the condition, like smoking or obesity, there are also several genes like APOL1, PKD1, and PKD2, that have been shown to significantly influence CKD risk and progression. Understanding these genetic risk factors opens the door for precision medicine, offering faster diagnoses and more effective treatments for CKD patients.
In the latest episode of the Genetics Podcast, host Patrick Short spoke with Paul Wille, Director of Product Development at Abeona Therapeutics, about adeno-associated virus (AAV) in gene therapy. The conversation covered the advantages of AAV as a gene delivery vehicle, the challenges slowing down its uptake, and its potential uses, particularly in eye conditions. Here’s a breakdown of the key points from their discussion: