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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.
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.
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.
Dr Peter Diamond, Head of Research from the Leukaemia Foundation, describes what we need to know about amyloidosis, a rare but devastating blood condition
Research indicates the possibility for a new, easier and more accurate tool to measure the progress of lupus in patients
Dr Dan Williams, SynaptixBio CEO, discusses the search to find the first treatment for one of the world’s rarest diseases, TUBB4A-associated leukodystrophy
Dandy-Walker Syndrome. What is it? What are the symptoms? What are the causes? What is the prognosis? Is it treatable?
Afshin Attari, Senior Director of Public Sector & Unified Platforms at Exponential-e, describes driving the digital-first future of pathology through partnerships.
Frost & Sullivan’s TechCasting Group, places the spotlight on osteogenesis imperfecta – toward future targeted, more effective therapy.
Patricia Osborne, Chief Executive of the Brittle Bone Society, tells us what we need to know about Osteogenesis Imperfecta.
The CIPP Rett Centre provides treatment for emotional, behavioural and autonomic difficulties/disorders in patients with Rett Syndrome.
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.
Dr. Yuping Wang and Dr. David F. Lewis from LSUHSC-Shreveport discuss how to reduce hypertensive disorders in human pregnancy.
Learn about these five rare diseases to support governments, scientists and healthcare professionals to find treatments.
Maria Piggin, Chair of PNH Support tells us about the rare disease, paroxysmal nocturnal haemoglobinuria (PNH) and in this area, collaborations for change.
PTC Therapeutics have announced the use of a blood test for the rare genetic condition, aromatic L-amino acid decarboxylase (AADC) deficiency.
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.
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.
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.
Jane Kinghorn, Director of the Translational Research Office at UCL, discusses the importance of research and partnership in improving the health and wealth of the UK.
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