A study uncovers the connection between mutations in the GEMIN5 gene and Coenzyme Q10 deficiency
In science, things take time, but perseverance can eventually bear fruit. The results of this work, published in the European Journal of Human Genetics, began in 2004 with the study of a 12-year-old
Ken To — Caregiver in a family impacted by Huntington’s disease
As Ken To states, being part of a family affected by Huntington's disease is challenging. The disease may manifest at any stage of adulthood and, currently, it does not have a cure. “Growing up in a
Advances in the comprehension of the physiological basis of collagen VI-related muscular dystrophy
A new study published in Scientific Reports and led by Dr Cecilia Jiménez (IRSJD-CIBERER) provides, for the first time, a comprehensive analysis of the proteins (proteome) contained in the
Gene therapy for congenital muscular dystrophy tested for the first time in patients' cells
Within neuromuscular diseases, there is a broad group of low prevalence disorders known as congenital muscular dystrophies, which shown both clinical and genetic diversity. Symptoms usually appear at
The story of Hafiz: father of a Duchenne adult in Sri Lanka
I am Hafiz Issadeen, a parent from Sri Lanka. I had a son with Duchenne muscular dystrophy who died last year at the age of 37. I thought he must be the oldest patient in Asia at that time. I used to
7 tips to organise a successful global online training for your rare disease community
Organising a training on a global scale can seem daunting at first. But when done right, you have created a connected community and move forward with a joint strategy that can benefit all. Are you
Research study on neuromuscular diseases: interactive session with families
In this session we will explain the Share4Rare research project on neuromuscular diseases. This study collects information about quality of life/burden of the pathology and the impact of the disease
Research Study for NMD: interactive session with UK families
In this session we will explain the Share4Rare research project on neuromuscular diseases. This study collects information about quality of life/burden of the pathology and the impact of the disease
#S4RMonth activity: How to navigate psychological care in neuromuscular conditions
The field of rare neuromuscular diseases houses many types of conditions, each with its own disease expression. One thing they all have in common is that being or caring for an individual with a
Meeting the partners — World Duchenne Organization
The World Duchenne Organization (WDO) is one of the two patient organisations joining Share4Rare as project partner. Dimitrios Athanasiou, WDO board member and father of a boy with Duchenne, did not
An interview with Jeffrey Galuidi — Father of a young boy with congenital myasthenic syndrome
Jeffrey Galuidi is Jackson’s father, a young boy with congenital myasthenic syndrome (CMS), a rare neuromuscular disease. “Jackson was diagnosed with a general muscle wasting condition a couple of
The Share4Rare research project on neuromuscular rare diseases: analysing how the disease affects employment and education
The Share4Rare platform is growing in strength, with over 900 users validated since April 2019. This growing community of rare disease patients and families is providing a secure environment for