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In order to address the unmet needs and create opportunities that benefit patients with rare disease in India, a group of volunteers created a not-for-profit organization named Organization for Rare Diseases India (ORDI; www.ordindia.org). ORDI plans to represent the collective voice and advocate the needs of patients with rare diseases and other stakeholders in India. The ORDI team members come from diverse backgrounds such as genetics, molecular diagnostics, drug development, bioinformatics, communications, information technology, patient advocacy and public service. ORDI builds on the lessons learned from numerous similar organizations in the USA, European Union and disease-specific rare disease foundations in India. In this review, we provide a background on the landscape of rare diseases and the organizations that are active in this area globally and in India. We discuss the unique challenges in tackling rare diseases in India, and highlight the unmet needs of the key stakeholders of rare diseases. Finally, we define the vision, mission, goals and objectives of ORDI, identify the key developments in the health care context in India and welcome community feedback and comments on our approach.

The neuronal ceroid-lipofuscinoses (NCL) is a group of neurodegenerative disorders characterized by epilepsy, visual failure, progressive mental and motor deterioration, myoclonus, dementia and reduced life expectancy. Classically, NCL-affected individuals have been classified into six categories, which have been mainly defined regarding the clinical onset of symptoms. However, some patients cannot be easily included in a specific group because of significant variation in the age of onset and disease progression. Molecular genetics has emerged in recent years as a useful tool for enhancing NCL subtype classification. Fourteen NCL genetic forms (CLN1 to CLN14) have been described to date. The variant late-infantile form of the disease has been linked to CLN5, CLN6, CLN7 (MFSD8) and CLN8 mutations. Despite advances in the diagnosis of neurodegenerative disorders mutations in these genes may cause similar phenotypes, which rends difficult accurate candidate gene selection for direct sequencing. Three siblings who were affected by variant late-infantile NCL are reported in the present study. We used whole-exome sequencing, direct sequencing and in silico approaches to identify the molecular basis of the disease. We identified the novel c.1219T>C (p.Trp407Arg) and c.1361T>C (p.Met454Thr) MFSD8 pathogenic mutations. Our results highlighted next generation sequencing as a novel and powerful methodological approach for the rapid determination of the molecular diagnosis of NCL. They also provide information regarding the phenotypic and molecular spectrum of CLN7 disease.

Purpose To correlate the structure of the macula, as measured by spectral-domain optical coherence tomography (SD-OCT) and function, as measured by microperimetry (MAIA) in patients with retinitis pigmentosa (RP) and relatively good visual acuity. Design Prospective, cross-sectional, nonintervention study. Subjects Patients with RP. Methods Thirty patients with RP and good central visual acuity were identified. Each patient underwent SD-OCT of the macula and microperimetry. The images were overlaid using the custom-designed software. The retinal sensitivity by microperimetry was correlated with corresponding retinal thickness, as measured by the SD-OCT. ELM, COST, and IS/OS junction were scored as intact, disrupted, or absent. Main outcome measures Comparing the retinal sensitivity on the MAIA with various measurements on the SD-OCT. Results The retinal sensitivity on the MAIA showed a significant correlation with total retinal thickness and outer retinal thickness on the SD-OCT. There was no association with either the inner retinal thickness or the choroidal thickness. ORT showed a statistically significant correlation with the anatomical classification of ELM (r = − 0.76, Po0.001), IS/OS (r = − 0.800, Po0.001), and COST (r = − 0.733, Po0.001). Conclusion This study determined that there was a high correlation of the structure and function of the central macula in patients with RP. These studies are important to establish surrogate markers that can be used as end points for various tests in future therapeutic clinical trials.