The EURORDIS ‘how to’ webinar series for patient organisations provides interactive training on practical skills such as how to cultivate volunteers, social media and governance. Webinar speakers include fellow patient organisation leaders, topic experts and EURORDIS team members. Each webinar will include an interactive Q&A, during which participants can ask speakers their own questions. The knowledge shared through the webinars will be useful to participants wanting to grow or improve the structure or communications of their own patient organisation.

The webinars are designed for participants from patient organisations or patients looking to set up patient organisations only.

The first EURORDIS ‘How to’ webinar was led by Claudia Crocione on “People raising” and how to find, cultivate and motivate volunteers and took place in January 2018. Watch a recording of the webinar.

You Know You’re An EB Mom When… & What I Need You To Know

I know there are some out there who think they know what the life of an EB mom is like. Maybe you’re an EB (Epidermolysis Bullosa) mom yourself, and this is your truth, but to others, this may be a surprise, or even a revelation.

Here’s what my life it’s like from my prospective.

TOPIC: Events, Featured News, Get Involved, Medical, Patient Stories, Patients & Members Robert Campbell, Jr., M.D.: 2018 Lifetime Achievement Award Honoree Posted by Christina Jensen    

Dr. Robert M. Campbell, Jr. is Director of the Center for Thoracic Insufficiency Syndrome (CTIS) and an Attending Physician in the Division of Orthopaedic Surgery at Children’s Hospital of Philadelphia (CHOP). He is best known as the inventor of the Vertical Expandable Prosthetic Titanium Rib (VEPTR) device. Developed for the treatment of rare syndromes and disorders involving a malformed rib cage or missing ribs, this device was created by Dr. Campbell, then a pediatric orthopedist at CHRISTUS Santa Rosa Children’s Hospital in San Antonio, with the help of his colleague, Melvin Smith M.D. Drs. Campbell and Smith, directors of the Thoracic Institute at Santa Rosa, performed the first of many titanium rib implant surgeries in 1989. The device has been life-saving for many children.

During the 2^nd medical committee of the Rare Diseases Foundation of Iran, the dossier of 4 suspected patients were checked & revised to refer to health & genetics clinics for further diagnosis .

EURORDIS Press- Paloma Tejada, Director, Rare Diseases International (RDI), delivered an official statement at the World Health Assembly of the World Health Organization (WHO) in Geneva at the end of May. The statement is the product of a collaboration between a number of organisations holding the status of ‘special relations with the WHO’ (Thalassaemia International Federation, World Federation of Hemophilia, International Alliance of Patients’ Organizations and March of Dimes) and the umbrella organisations that are members of the NGO Committee for Rare Diseases, including EURORDIS, Ågrenska, the International Alliance of Women, the International Federation for Spina Bifida and Hydrocephalus, and RDI. The statement called on WHO Member States to “not leave behind significant but often neglected rare diseases” and to promote national rare disease strategies, advocate for available and affordable medicines, and develop synergies across borders to ensure access to timely, appropriate and effective diagnosis and treatment.

Statement as agreed at the 3rd ISNS European regional meeting, Seville (spain), November 2004

The PDF is available, here.

Congenital dyserythropoietic anemia type II: epidemiology, clinical appearance, and prognosis based on long-term observation Hermann Heimpel, Volker Anselstetter, Ladislav Chrobak, Jonas Denecke, Beate Einsiedler, Kerstin Gallmeier, Antje Griesshammer, Thorsten Marquardt, Gritta Janka-Schaub, Martina Kron, and Elisabeth Kohne.

You can access the PDF, here.

New research provides insights into the genetics underlying a debilitating kidney disease in children.These  remarkable findings which were published in the Journal of American society of Nephrology (JASN) ,attract specialists’ attention in that particular field.

Genome Editing Might Be ‘Cure’ for Rare Diseases But Ethical Guidelines Needed, Panel Says

 ECRD 2018 – Should scientists have the right to edit the genes of future generations to eliminate hundreds, if not thousands, of potential rare diseases? Or should researchers restrict their use of genome editing to somatic cells, so that they don’t pass changes on to the next generation?

Advances in genetic understanding of gorlin syndrome and emerging treatment options

 Shawn Shih, Christina Dai, Ahmed Ansari, Brittany A Urso, Amy I Laughlin & James A Solomon

Introduction: Basal cell carcinoma nevus syndrome (BCCNS) is a rare syndrome characterized by multiple basal cell carcinomas (BCC), odontogenic keratocysts, and other abnormalities. The most common etiology, the loss-of-function PTCH1 mutations and consequent constitutive hedgehog signaling, can be blocked by smoothened inhibitors (SIs). However, other causes and alternative pathways have been identified.