On November 6 2015, The Cooley’s Anemia Foundation announced that is accepting applications for medical research grants and fellowships in areas related to thalassemia.

The awards are in 3 categories:

  1. Support for Ongoing Clinical Research in Thalassemia
  2. Clinical Trials in Thalassemia Cell and Gene Therapy
  3. Research Fellowships

More information: CAF website


BCL11A is a transcriptional repressor that inhibits expression of foetal globin genes in adults, and is a potential therapeutic target for the treatment of β-haemoglobinopathies, such as β-thalassaemia and sickle cell disease. The enhancer of BCL11A is subject to common genetic variation associated with foetal haemoglobin level. In a recent article published in journal Nature, Daniel Bauer, Stuart Orkin and colleagues used a CRISPR–Cas9 approach to perform saturation mutagenesis of the human and mouse BCL11A enhancers, producing a map that reveals critical regions and specific vulnerabilities. They validated BCL11A enhancer disruption by CRISPR–Cas9 as a therapeutic strategy for inducing foetal haemoglobin by applying it in both mice and primary human erythroblast cells. The discovery creates a path for developing gene editing approaches for treating sickle cell disease and other haemoglobin disorders.

More information: Nature article


[From OrphaNews]

The EUCERD adopted Recommendations on Rare Disease European Reference Networks on 31st January 2013. The primary purpose of these Recommendations was to “help focus on the specificities of rare diseases and the criteria for the establishment and evaluation of ERNs in the field of rare diseases.” At the November 2014 meeting of the EC Expert Group on Rare Diseases, it was agreed that although the Recommendations overall remain highly relevant and comprehensive, two topics should be revisited and elaborated at this stage: the grouping of RD into thematic networks and the necessity of a patient-centred approach to RD ERNs. This Addendum outlines the rationale of these two topics and then makes recommendations accordingly.

1. Grouping Rare Diseases in Thematic Networks: The addendum states that ERNs in the field of Rare Diseases should be organised by grouping targeted diseases at a high level. The list of potential ERNs is the following: Rare immunological and auto-inflammatory diseases, Rare bone diseases, Rare cancers* and tumours, Rare cardiac diseases, Rare connective tissue and musculoskeletal diseases, Rare malformations and developmental anomalies and rare intellectual disabilities, Rare endocrine diseases, Rare eye diseases, Rare gastrointestinal diseases, Rare gynaecological and obstetric diseases, Rare haematological diseases, Rare craniofacial anomalies and ENT (ear, nose and throat) disorders, Rare hepatic diseases, Rare hereditary metabolic disorders, Rare multi-systemic vascular diseases, Rare neurological diseases, Rare neuromuscular diseases, Rare pulmonary diseases, Rare renal diseases, Rare skin disorders, Rare urogenital diseases

2. Necessity of patient involvement in RD ERNs: According to the addendum “Rare Disease ERNs should recognise the critical roles patient and patient representations play, as experts by experience and co-producers of knowledge in all ERN activities, besides demonstrating meaningful involvement, patient-centricity and empowerment in care…. a higher level of involvement of patients in decision and opinion-making processes is essential to ensure the successful development of RD ERNs.”

More information: The Addendum [PDF], EUCERD Joint Action workshop [PDF], EUCERD Recommendations on RD ERN [PDF]


US-based National Organization of Rare Diseases (NORD) has unveiled the Rare Action Network - an advocacy network that serves as a broad spectrum of stakeholders ranging from patients, to their families, caregivers, and friends, researchers, industry representatives, physicians and academia. While working predominantly at the state level, the network will filter information up to NORD’s US federal policy team to help address issues of US concern. Among other benefits, this expansive network will enable connecting patients, caregivers, and stakeholders, participate in regional and local events, learn and address the nation’s leading issues and develop relationships with key decision-makers and opinion leaders.

More information: NORD's website

world sickle cell day

19th of June marks the World Sickle Cell Day aiming to increase public knowledge and raise awareness of Sickle Cell Disease and the struggles sufferers and their families go through. The date was chosen to commemorate the day on which a resolution was officially adopted by the General Assembly of the United Nations, recognising SCD as a public health concern.

More information about relevant global activities can be found at the World Sickle Cell Day website.

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