A national survey among 242 pediatricians in Australia reveals the experience with children with rare diseases. As the most common problems in the care of these patients, pediatricians determine the delay in diagnosis (65%), the lack of accessible treatments (40%) and the lack of clinical guidelines (36%). Respondents pay attention to the creation of reference portals and educational modules for rare diseases. More research results can be found here.
On 21-22 April 2018, the National Alliance of People with Rare Diseases will organize a training seminar on “Self-support to improve the quality of life of people with rare diseases and their families”. The event will be held at the “Rusalka” Hotel, Plovdiv. Speakers at the forum will be Dr. Radostina Simeonova, Dr. Todor Stoev, Dr. Margarita Zafarova and Mr. Milen Antonov. For more information, please download the program of the training seminar.
Behçet’s disease (BD) is a rare systemic vasculitis characterized by aphthous mouth ulcers, genital ulcers, ocular lesions and other systemic manifestations. The causes of BD are unknown, but it is believed that the disease is basically due to an autoimmune process induced by an infectious or environmental agent in a genetically predisposed individual. The most potent risk factor for BD is the HLA-B51 allele located in the MHC locus on the chromosome 6p. More information on unlocking factors, histology, diagnosis and treatment of BD can be found here.
Research on rare diseases cannot be performed without appropriate samples from patients with such diseases. Due to the limited number of such patients, securing biosamples of sufficient quality for extensive research is a challenge and represents an important barrier to the advancement of research on rare diseases. To tackle this problem, the Rare Disease Bank (RDB) was established in 2009 in Japan. As of August 2017, the bank has collected 4147 biosamples from patients with rare diseases, including DNA, serum, plasma, and cell samples from various university hospitals and other medical institutions across the country. To read more about RBD, please click here.
The German Paediatric Surveillance Unit (ESPED) was founded in 1992 to generate incidence data and detailed clinical descriptions of rare, childhood-onset diseases. Between 1992 and 2017 ESPED completed 96 prospective studies on rare diseases in children. The 3 most frequent clinical entities were: Infectious/communicable disease (n=30), neurological diseases (n = 14) and hematologic diseases (n=10). You can find more on ESPED here.
The Journal of Rare Disorders: Diagnosis and Therapy has published an article about Pseudohypoparathyroidism. PHP is a rare inherited disease. In it, the secretion of parathyroid hormone parathormone is normal. An abnormality is detected at the receptors. Most often the disease occurs in childhood with manifestation after three years of age. There are three known types as the first type (PHP1B) is the most common type. Symptoms are characterized by low height, obesity, low levels of calcium and phosphorus in the blood, short neck, rounded face, limb ankles. Subcutaneous calcifications are observed. Аn extended article about Pseudohypoparathyroidism, calcification of soft tissue and description of clinical cases can be found here.
On 8th-10th of September 2017 in Grand Hotel Plovdiv was held 12th Balkan Congress of Human Genetics and 8th National Conference for Rare Diseases. The newest achievements in the field of dysmorphology, reproductive, prenatal, cancer and neurogenetics, also innovations and trends in personalized and genomic medicine were represented. Highlights also included the current development in technologies and their application in daily medicine. Book of presentations and posters can be downloaded here.
On 24.02.2018, the Institute for Rare Diseases hosted а Тraining workshop on health technology assessment – post-marketing surveillance and performance-based payment of innovative therapies, which was held in Landmark Creek Hotel – Plovdiv. During the day, interesting topics were presented by leading experts in the field such as Prof. Dan Greenberg (Israel), Dr. Edmund Jessop (UK), Prof. Ranganath Lakshminarayan (UK), Mr. Francis Arickx (Belgium), Prof. Rumen Stefanov (Bulgaria) and Dr. Borislav Borissov (Bulgaria). Speakers presented their experience and good practices for implementation of innovative pharmaceuticals and medical therapies. All presentations from the training workshop can be downloaded from here.
The Journal of Spine Surgery has published a review about Osteogenesis imperfecta (OI). OI is a kind of heritable connective tissue disorder, including blue sclerae, hearing loss, skeletal dysplasia causing bone fragility and deformities. It is typically caused by collagen related gene mutations, which could lead to bone formation abnormalities. Scoliosis is one of the most common and severe spinal phenotype which has been reported in approximately 26-74.5% of all OI patients. Recent breakthroughs have suggested that OI can be divided into more than 16 types based on genetic mutations with different degrees of scoliosis. In this review, the authors summarize the etiology of scoliosis in OI, especially the genetic studies of different types. The full-text review you can find here.
The journal The Clinical Respiratory Journal has published an article about Pulmonary arterial hypertension (PAH). PAH and chronic thromboembolic pulmonary hypertension (CTEPH) are rare diseases with a gradual decline in physical health. Adherence to treatment is crucial in these very symptomatic and life threatening diseases. The aim of the article is to describe PAH and CTEPH patients experience of their self-reported medication adherence, beliefs about medicines and information about treatment. The full-text article you can find here.