Rare Diseases

World’s first gene therapy for p47 Chronic Granulomatous Disease developed by UCL and GOSH

UCL and Great Ormond Street Hospital have developed the world's first gene therapy for p47 Chronic Granulomatous Disease.

Understanding Amyloidosis, a group of rare diseases

In this interview, Abbas Kanani, MRPharmS, Superintendent Pharmacist at Chemist Click, tells us about amyloidosis, a group of rare diseases in which abnormal proteins deposit as amyloid in tissues and organs.

Overcoming the cost challenge of rare, orphan & genetic therapies and CGT development

Craig Caceci, Managing Director, Terebellum®, walks us through how to overcome the cost challenge of CGT development for rare, orphan and genetic therapies.

Improving the quality of life for people with brittle bone disease: Osteogenesis Imperfecta

Pascale V Guillot, at the University College London, looks toward improving the quality of life for those with Osteogenesis imperfecta, a chronic health condition called brittle bone disease.

Examining the burden of rare diseases in the US

Open Access Government explore the research efforts of the U.S. National Institutes of Health to mitigate the often-underestimated burden of rare diseases on patients and their families.

COVID-19 impact on rare disease: Peroxisomal disorders

Dr Michael Wangler, Assistant Professor at Molecular and Human Genetics Baylor College of Medicine and Katie Sacra, Director of Family Programs, Global Foundation for Peroxisomal Disorders, mother of TJ, discusses the impact of the COVID-19 pandemic on families with rare disease - especially peroxisomal disorders.

Amyloidosis: A rare but devastating blood condition

Dr Peter Diamond, Head of Research from the Leukaemia Foundation, describes what we need to know about amyloidosis, a rare but devastating blood condition

New tool to boost lupus tracking to 96% accuracy

Research indicates the possibility for a new, easier and more accurate tool to measure the progress of lupus in patients

TUBB4A-associated leukodystrophy

Dr Dan Williams, SynaptixBio CEO, discusses the search to find the first treatment for one of the world’s rarest diseases, TUBB4A-associated leukodystrophy

What is Dandy-Walker Syndrome? – Everything you need to know

Dandy-Walker Syndrome. What is it? What are the symptoms? What are the causes? What is the prognosis? Is it treatable?

Driving the digital-first future of pathology through partnerships

Afshin Attari, Senior Director of Public Sector & Unified Platforms at Exponential-e, describes driving the digital-first future of pathology through partnerships.

Osteogenesis imperfecta – what we need to know

Frost & Sullivan’s TechCasting Group, places the spotlight on osteogenesis imperfecta – toward future targeted, more effective therapy.

What is Osteogenesis Imperfecta (OI)?

Patricia Osborne, Chief Executive of the Brittle Bone Society, tells us what we need to know about Osteogenesis Imperfecta.

Harnessing digital innovations to become a beacon of hope for Rett patients

The CIPP Rett Centre provides treatment for emotional, behavioural and autonomic difficulties/disorders in patients with Rett Syndrome.

Finland: A framework for genetic research

Mark Daly, Director of the Institute for Molecular Medicine Finland (FIMM), HiLIFE at the University of Helsinki, shares his expertise on medical genetic research on a population scale in Finland.

Could vitamin D reduce hypertensive disorders in human pregnancy?

Dr. Yuping Wang and Dr. David F. Lewis from LSUHSC-Shreveport discuss how to reduce hypertensive disorders in human pregnancy.

A focus on rare disease: Paroxysmal nocturnal haemoglobinuria (PNH)

Maria Piggin, Chair of PNH Support tells us about the rare disease, paroxysmal nocturnal haemoglobinuria (PNH) and in this area, collaborations for change.

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Latest Academic Articles

The latest academic articles from key research stakeholders