The French rare disease research and clinical field has been a pioneer by structuring itself through different action plans. Competence centres and Reference centres are organized within Rare Disease Health Networks (Filières de Santé Maladies Rares), which ha [....] » Read More
Aims: Malignant pleural mesothelioma (MPM) is a rare cancer of lungs’ pleural cavity, with minimally effective therapies available. Thus, there exists a necessity for drug repurposing which is an attractive strategy for drug development in MPM. Repurposing of an old FD [....] » Read More
Traditional clinical research paradigms relying solely on brick and mortar in-person engagement between researchers and patients have failed to provide the scale and efficiencies needed in orphan products development. Patients with rare disease are geographically sparsely distrib [....] » Read More
Kawasaki disease, it is a systemic vasioinflammatory disease in children of Asian descent, coronary artery injury is its major complication, the disease has now become a major cause of acquired heart disease in children. The etiology of Kawasaki disease is not fully clear, and it [....] » Read More
The proteoglycan named heparan sulfate (HS) is found in the extracellular matrix and also on cell surface and may represent one of the most biologically important glycoconjugates, playing essential role in a variety of different events at molecular level. Heparanase is an endo-gl [....] » Read More
Leber hereditary optic neuropathy (LHON) is a rare, maternally inherited mitochondrial genetic disease with a continued high unmet medical need. Three primary point mutations in the mtDNA are responsible for LHON in approximately 90% of subjects: G3460A, G11778A and T14484C, loca [....] » Read More
A drug recommendation system using collaborative filtering in machine learning is a system that suggests drugs to users based on the preferences and patterns of similar users. Collaborative filtering is a popular technique in recommendation systems, and it can be applied to drug [....] » Read More
Lack of expression or the inefficient function of the VHL protein raises the rare inherited cancer von Hippel-Lindau (VHL). This multi-systemic rare disease affects mainly CNS and retina (hemangioblastomas, HBs), pancreas, and kidneys (cysts and clear cell renal cell carcinomas, [....] » Read More
Neurotransmitter deficiencies are rare neurological disorders with clinical onset during childhood. Its classical signs are hypotonia, movement disorders, autonomous dysregulations, and impaired development. The clinical symptoms of inherited neurotransmitters disorders often ove [....] » Read More
Cyber security is the practice of defending computers, servers, mobile devices, electronic systems, networks, and data from malicious attacks. It's also known as information technology security or electronic information security. Cybersecurity plays a vital role in the contex [....] » Read More
Rare diseases are a significant healthcare challenge worldwide, with an estimated 350 million people globally affected by one of over 7000 rare diseases. India, with the population of over 1.48 billion, is no exception. It is estimated that we have more than 70 million people aff [....] » Read More
Botulism is a neuroparalytic disease caused by botulinum neurotoxins (BoNTs) and has been reported as a potential bio warfare agent due to its extreme toxicity (~100 billion times more toxic than cyanide). BoNTs is produced by Gram positive; an obligate anaerobic and endospore fo [....] » Read More
Neiman Pick disease type-C (NPC) is a rare lysosomal lipid storage disorder. NPC has a wide variety of clinical manifestations from rapidly fatal neonatal form to adult onset chronic neurodegenerative form. It is traditionally known as a childhood onset autosomal recessive, [....] » Read More
Interstitial cystitis/bladder pain syndrome (IC/PBS) was once thought to be a rare disease as well as a psychosomatic disorder in women. As a result, the disease went undiagnosed for hundreds of years. IC/BPS is a condition of the bladder that can cause severe pain, u [....] » Read More
Glaucoma is a degenerative optic neuropathy that is the leading cause of preventable blindness worldwide. Roughly 3% of the adult human population has or will have glaucoma, and the prevalence increases with age. All races, both genders, and all 6 inhabitable continents comprise [....] » Read More
Objective: To investigate the effect of Eupalinolide B (EB) on amyotrophic lateral sclerosis (ALS). Case description: The 66-year-old femele patient experienced progressive right upper limb weakness and slowed speech speed in November, 2021. One month later, weakness of lower li [....] » Read More
Ophthalmological conditions are underreported in patients with KBG syndrome, which is classically described as the presentation of dental, developmental, intellectual, skeletal, and craniofacial abnormalities. KBG syndrome is diagnosed by the identification of variants in the ANK [....] » Read More
People living with a rare disease are amongst the most vulnerable groups in society. They have been historically marginalized and systematically stigmatized, especially in middle and low-income countries. It is estimated that 300 million people worldwide live with a rare disease. [....] » Read More
