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Osteogenesis Imperfecta

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.
burden of rare diseases, maternal health

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.
peroxisomal disorders, covid-19 rare diseases

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 blood condition

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
monitor lupus

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
Dandy-Walker Syndrome

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?
future of pathology

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 (OI)

Osteogenesis imperfecta – what we need to know

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

What is Osteogenesis Imperfecta (OI)?

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

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.
genetic research

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.
hypertensive disorders in human pregnancy, preeclampsia

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.
Five rare diseases, Alice in Wonderland Syndrome

Five rare diseases you never knew existed

Learn about these five rare diseases to support governments, scientists and healthcare professionals to find treatments.
nocturnal haemoglobinuria

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.
blood test for rare genetic condition, AADC

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.
access to medicine, iran sanctions

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.
systemic lupus erythematosus

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.
red blood cells, european red cell society

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.
health and wealth

Delivering improved health and wealth in the UK

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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