Rare diseases are those diseases that are not seen frequently in a population. There are about 7000 rare diseases that have been identified worldwide, and 80% of them are caused by genetic changes. Since a small number of individuals are affected with rare diseases, most clinicians are not aware of such diseases, and thus, they remain undiagnosed and untreated. Awareness regarding such diseases is essential to train clinicians to diagnose individuals affected with these disorders and to develop National/International Registries, which will serve to give information about the disease prevalence, its natural course, treatment, and management options available, to the medical fraternity. Patient advocacy groups play a remarkable and unique role in forming the collective voice of individuals living with rare diseases. They help in the identification, diagnosis, management, treatment, and prevention of such diseases. Advocacy Groups form collaborative partnerships with scientists studying such rare diseases, clinicians managing these diseases, pharmaceutical companies developing drugs, and Government officials overseeing and policy makers implementing medical regulatory processes. Thus, advocacy groups play a key role in helping patients and families with rare diseases.
Rare diseases (RDs) are diseases that occur infrequently and affect a small fraction of the population. Although these diseases individually affect small number of people, together they affect 400 million people globally at any given time. In India, where resources are scarce, healthcare infrastructure and policy framework are focused on mitigating diseases that affect many people. Further, the level of RD awareness among healthcare professionals, researchers, and general public is considerably low. As a result, many cases of RDs remain unreported, undiagnosed, and untreated. To frame policies regarding RDs, it is crucial to understand the current level of RD awareness among healthcare professional and researchers, as they are key stakeholders in diagnosis, treatment, policy making, and drug development. We conducted an exploratory survey to understand the current level of RD awareness among healthcare professionals and researchers based on identification of an RD, time for diagnosis, treatment options, and relationship with family history and geographic location. We noted that our respondents have considerably low level of RD awareness. They correctly identified the importance of family history but failed to realize the association with geographic location. After presenting the survey findings, we have made recommendation to improve RD awareness in India. Our findings will be helpful to design awareness campaigns and frame relevant policies.
The anti-hyperglycemic and antioxidant effects of the Indian herbal formulation Brahmi gritham were studied in streptozotocin-induced diabetic female Wistar albino rats. Diabetes was induced by a single dose of streptozotocin (55 mg/kg body weight [b.w.], i.p.). Estimation of blood glucose levels, liver glycogen content and antioxidant levels were carried out in experimental rats. The tested parameters were compared with those of the glibenclamide (600 μg/kg b.w.) treated group. Molecular docking studies were carried out to analyze the interaction patterns of protein kinase C (PKC) and CD38 of chosen proteins of signal transduction pathways that are significant in the pathogenesis of diabetes against active components of Brahmi gritham. Immunohistochemistry of pancreas revealed that Brahmi gritham was able to restore β-cell mass and function near to that of the normal control. In silico studies showed that apigenin and quercetin showed significant interactions with PKC, while clitorin, bacopaside I and II showed significant interactions with CD38. Quercetin showed highest percentage inhibition of α-amylase enzyme. PRACTICAL APPLICATIONSBrahmi gritham is a traditional polyherbal formulation used in Ayurveda to treat memory disorders. The individual components of this formulation are known to possess significant antioxidant properties and contain several biologically active compounds found to be effective in treating various disorders, including diabetes and obesity. The efficacy of Brahmi gritham in diabetes management has not yet been studied, and therefore, the present study provides insights into the antihyperglycemic potential of this formulation in rat model. In addition, the results of in silico analysis would pave way for better utilization of the flavonoids quercetin and apigenin in diabetes management and in particular microvascular diabetic complications.
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