Rare Diseases

Vitamin B3 supplement reverses premature ageing in Werner Syndrome patients

There is a beacon of hope for patients with a rare genetic disorder called Werner Syndrome as researchers unveil a groundbreaking discovery: Nicotinamide riboside, a vitamin B3 derivative, reverses premature ageing.

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.

Researchers use blood test for rare genetic condition

PTC Therapeutics have announced the use of a blood test for the rare genetic condition, aromatic L-amino acid decarboxylase (AADC) deficiency.

Iran: Sanctions impair access to medicine

The Trump administration’s sanctions on Iran have limited the ability of the country to finance imports, including access to medicine, causing serious hardships for ordinary Iranians.

Addressing gaps in systemic lupus erythematosus management

Lupus is on the rise, yet awareness of the disease remains relatively low. However, efforts are underway to tackle existing gaps in managing the condition, as we discover here.

Developments in red blood cells at the Mount of Truth

The European Red Cell Society’s met the partners of the EU intellectual training network RELEVANCE at Mount of Truth in Ascona, Switzerland to discuss the latest progress.

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Latest Academic Articles

The latest academic articles from key research stakeholders