Dataset Information

Review: Understanding Rare Genetic Diseases in Low Resource Regions Like Jammu and Kashmir - India.

ABSTRACT: Rare diseases (RDs) are the clinical conditions affecting a few percentage of individuals in a general population compared to other diseases. Limited clinical information and a lack of reliable epidemiological data make their timely diagnosis and therapeutic management difficult. Emerging Next-Generation DNA Sequencing technologies have enhanced our horizons on patho-physiological understanding of many of the RDs and ushered us into an era of diagnostic and therapeutic research related to this ignored health challenge. Unfortunately, relevant research is meager in developing countries which lack a reliable estimate of the exact burden of most of the RDs. India is to be considered as the "Pandora's Box of genetic disorders." Owing to its huge population heterogeneity and high inbreeding or endogamy rates, a higher burden of rare recessive genetic diseases is expected and supported by the literature findings that endogamy is highly detrimental to health as it enhances the degree of homozygosity of recessive alleles in the general population. The population of a low resource region Jammu and Kashmir (J&K) - India, is highly inbred. Some of its population groups variably practice consanguinity. In context with the region's typical geographical topography, highly inbred population structure and unique but heterogeneous gene pool, a huge burden of known and uncharacterized genetic disorders is expected. Unfortunately, many suspected cases of genetic disorders remain undiagnosed or misdiagnosed due to lack of appropriate clinical as well as diagnostic resources in the region, causing patients to face a huge psycho-socio-economic crisis and many a time suffer life-long with their ailment. In this review, the major challenges associated with RDs are highlighted in general and an account on the methods that can be adopted for conducting fruitful molecular genetic studies in genetically vulnerable and low resource regions is also provided, with an example of a region like J&K - India.

SUBMITTER: Angural A

PROVIDER: S-EPMC7203485 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Review: Understanding Rare Genetic Diseases in Low Resource Regions Like Jammu and Kashmir - India.

Angural Arshia A Spolia Akshi A Mahajan Ankit A Verma Vijeshwar V Sharma Ankush A Kumar Parvinder P Dhar Manoj Kumar MK Pandita Kamal Kishore KK Rai Ekta E Sharma Swarkar S

Frontiers in genetics 20200430

Rare diseases (RDs) are the clinical conditions affecting a few percentage of individuals in a general population compared to other diseases. Limited clinical information and a lack of reliable epidemiological data make their timely diagnosis and therapeutic management difficult. Emerging Next-Generation DNA Sequencing technologies have enhanced our horizons on patho-physiological understanding of many of the RDs and ushered us into an era of diagnostic and therapeutic research related to this i ...[more]

PMID: 32425985

Similar Datasets

Project description:Home to a culturally heterogeneous population, India is also a melting pot of genetic diversity. The population architecture characterized by multiple endogamous groups with specific marriage patterns, including the widely prevalent practice of consanguinity, not only makes the Indian population distinct from rest of the world but also provides a unique advantage and niche to understand genetic diseases. Centuries of genetic isolation of population groups have amplified the founder effects, contributing to high prevalence of recessive alleles, which translates into genetic diseases, including rare genetic diseases in India.Rare genetic diseases are becoming a public health concern in India because a large population size of close to a billion people would essentially translate to a huge disease burden for even the rarest of the rare diseases. Genomics-based approaches have been demonstrated to accelerate the diagnosis of rare genetic diseases and reduce the socio-economic burden. The Genomics for Understanding Rare Diseases: India Alliance Network (GUaRDIAN) stands for providing genomic solutions for rare diseases in India. The consortium aims to establish a unique collaborative framework in health care planning, implementation, and delivery in the specific area of rare genetic diseases. It is a nation-wide collaborative research initiative catering to rare diseases across multiple cohorts, with over 240 clinician/scientist collaborators across 70 major medical/research centers. Within the GUaRDIAN framework, clinicians refer rare disease patients, generate whole genome or exome datasets followed by computational analysis of the data for identifying the causal pathogenic variations. The outcomes of GUaRDIAN are being translated as community services through a suitable platform providing low-cost diagnostic assays in India. In addition to GUaRDIAN, several genomic investigations for diseased and healthy population are being undertaken in the country to solve the rare disease dilemma.In summary, rare diseases contribute to a significant disease burden in India. Genomics-based solutions can enable accelerated diagnosis and management of rare diseases. We discuss how a collaborative research initiative such as GUaRDIAN can provide a nation-wide framework to cater to the rare disease community of India.

Project description:BackgroundThe present study is the first quantitative ethnobotanical evaluation of Harighal, an inaccessible and unexplored area of District Bagh Azad Jammu & Kashmir (AJK). The exploration, quantification, and comparison of ethnobotanical knowledge among different rural communities of the study area were mainly focused during field survey.MethodologyIn total, 79 informants (49 men and 34 women) were selected randomly to collect data using a semi-structured questionnaire. Various quantitative indices, including use value, relative frequency of citation, relative importance, fidelity level, and informant consent factor, were employed to evaluate the gathered information. Furthermore, primary data were also compared with twenty-two papers published from adjoining areas.ResultA total of 150 medicinal plants belonging to 98 genera and 60 families were documented. Asteraceae, Fabaceae, and Rosaceae were the dominant families having 15 species each. Of these, 76 species were indigenous, 74 exotic, 136 were collected in the wild, 10 cultivated, and 4 both wild-collected and cultivated. Herbaceous taxa were the most used life form, and leaves were the most exploited plant part. Decoctions were the most preferred method used in preparation of herbal recipes. Three species viz. Mentha longifolia, Berberis lycium, and Galium aparine had the highest use value (1.05), relative frequency of citation (0.81), and relative importance value (96), respectively. The highest informant consensus factor (ICF) was reported for digestive disorders. Mentha longifolia, Punica granatum, Zanthoxylum alatum, and Olea ferruginea had 100% fidelity values. The Jaccard index revealed that uses of plants were more similar in two neighboring areas, i.e., Pearl Valley and Toli Peer.ConclusionLocal inhabitants still prioritize herbal medicines as an effective way to treat a wide variety of ailments. Elders and health practitioners of the study area are well aware of indigenous knowledge about medicinal plants, but young people are not much interested in herbal practices. Thus, valuable knowledge about the use of plants is on the verge of decline.

Dataset Information

Review: Understanding Rare Genetic Diseases in Low Resource Regions Like Jammu and Kashmir - India.

Publications

Review: Understanding Rare Genetic Diseases in Low Resource Regions Like Jammu and Kashmir - India.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets