Orphanet Activity Report
Orphanet, the reference portal for rare diseases and orphan drugs with partnerships in 40 countries, has published its annual activity report for the year 2015.
It details the activities of Orphanet, while stressing the highlights of the past year. These include:
• Coordination of joint action of the Member States of the European Union 2015-2018 on rare diseases with Orphanet RD-ACTION;
• The evolution of the Orphanet database to a viable European model which is also one of the RD-ACTION objectives;
• Orphanet and the Orphanet ontolology ORDO received the 'IRDiRC Recommended' label;
• Orphanet was integrated as the 30th platform of the French Institute of Bioinformatics (IFB);
• Improving the transparency and traceability;
• Orphanet has updated scientific databases and expert resources;
• The update of Orphanet Reports;
• Improved search tools in the Orphanet website;
• Collaboration between IHTSDO (International Health Terminology Standards Development Organisation) and Orphanet to improve the visibility of rare diseases in SNOMED CT;
• The progress of the addition of ORPHA codes to European national health systems.
• The launch of the application ORPHA GUIDES.
Read the 2015 Activity Report Orphanet.
In Philippines a new law has been signed a law that will help persons with rare disease have better access to comprehensive medical care.
An article published in the Orphanet Journal of Rare Diseases describes a web-based registry named the Australasian Registry Network of Orphan Lung Diseases (ARNOLD), that records the prevalence of multiple orphan lung diseases in Australia and New Zealand. The registry collected data from respiratory physicians and recorded prevalence date on 30 rare lung diseases. Although under-reporting was a drawback, this registry serves to be an important platform to receive data on rare lung diseases in the Australia – New Zealand region. 
Consanguineous unions in Pakistan’s have resulted in a significant burden of inherited metabolic disorders (IMDs), which is compounded by the lack of genetic and clinical services for these patients. An article published in The Egyptian Journal of Medical Human Genetics has presented the experience of a metabolic unit at a tertiary care hospital in Pakistan. As expected, the authors found that in this unit, 78% of the children with IMD had consanguineous parents, but only 36% of these patients underwent metabolic biochemical testing. The authors also express the difficulty in obtaining a diagnosis for these patients, as less than 20% received a definite diagnosis. They recommend that “preventive strategies including prenatal genetic testing and cascade screening for at risk individuals can help in reducing the financial burden on the already stretched health care system of Pakistan.” 
The United States Food and Drug Administration (FDA) voted to not recommend the approval of eteplirsen, which would have been the first drug for Duchenne muscular dystrophy (DMD). According to the manufacturers - Sarepta Therapeutics, this drug prolonged the ability of boys with the disease to walk well beyond when they would normally be in wheelchairs. However, 
Japan Agency for Medical Research and Development (AMED) launched the Initiative on Rare and Undiagnosed Diseases (IRUD), last year. This is a nationwide consortium assists networking of patients, medical doctors at hospitals and community clinics, and researchers. They aim to integrate their efforts and expertise, and exploit the information obtained by genome analysis to provide the diagnoses to patients with rare and undiagnosed diseases. It follows the examples of the Undiagnosed Diseases Program by the U.S. National Institutes of Health and the Deciphering Developmental Disorders project in the U.K. 
