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Abstract
microRNAs (miRNAs) are a class of small RNAs (19-25 nucleotides in length) processed from double-stranded hairpin precursors. They negatively regulate gene expression in animals, by binding, with imperfect base pairing, to target sites in messenger RNAs (usually in 3' untranslated regions) thereby either reducing translational efficiency or determining transcript degradation. Considering that each miRNA can regulate, on average, the expression of approximately several hundred target genes, the miRNA apparatus can participate in the control of the gene expression of a large quota of mammalian transcriptomes and proteomes. As a consequence, miRNAs are expected to regulate various developmental and physiological processes, such as the development and function of many tissue and organs. Due to the strong impact of miRNAs on the biological processes, it is expected that mutations affecting miRNA function have a pathogenic role in human genetic diseases, similar to protein-coding genes. In this review, we provide an overview of the evidence available to date which support the pathogenic role of miRNAs in human genetic diseases. We will first describe the main types of mutation mechanisms affecting miRNA function that can result in human genetic disorders, namely: (1) mutations affecting miRNA sequences; (2) mutations in the recognition sites for miRNAs harboured in target mRNAs; and (3) mutations in genes that participate in the general processes of miRNA processing and function. Finally, we will also describe the results of recent studies, mostly based on animal models, indicating the phenotypic consequences of miRNA alterations on the function of several tissues and organs. These studies suggest that the spectrum of genetic diseases possibly caused by mutations in miRNAs is wide and is only starting to be unravelled.

Cover -- Newborn Screening for Genetic Disorders: Experiments on Plant Hybridization -- Contents -- Acknowledgments -- Introduction -- Chapter 1: Symptoms and Diagnosis -- Chapter 2: Causes and Contributing Factors -- Chapter 3: Treatment and Therapy -- Chapter 4: Future Prospects -- Conclusion -- Glossary -- Bibliography -- About the author -- Index -- Ad Page -- Back Cover.

SummaryCases of βthalassaemia and haemophilia (factor 8 and 9 deficiency) in pre-war Lebanon were examined for social and genetic information, using medical records. All diagnosed cases admitted to the American University Hospital in Beirut between 1960 and 1970 were examined. Muslims and families of lower socioeconomic status predominated in the data, and many cases were located in the semi-rural poverty belt of Beirut, where many rural migrants and Palestinian refugees congregate. Parental consanguinity rates among male haemophiliacs were used as estimates for the general population. Consanguinity is higher in the thalassaemic population. In the Christian population the incidence of this autosomal recessive disorder appears to have been inflated by consanguinity more than in the Muslims

RNA-binding proteins (RBPs) are critical effectors of gene expression, and as such their malfunction underlies the origin of many diseases. RBPs can recognize hundreds of transcripts and form extensive regulatory networks that help to maintain cell homeostasis. System-wide unbiased identification of RBPs has increased the number of recognized RBPs into the four-digit range and revealed new paradigms: from the prevalence of structurally disordered RNA-binding regions with roles in the formation of membraneless organelles to unsuspected and potentially pervasive connections between intermediary metabolism and RNA regulation. Together with an increasingly detailed understanding of molecular mechanisms of RBP function, these insights are facilitating the development of new therapies to treat malignancies. Here, we provide an overview of RBPs involved in human genetic disorders, both Mendelian and somatic, and discuss emerging aspects in the field with emphasis on molecular mechanisms of disease and therapeutic interventions. ; The authors acknowledge funding from the Spanish Ministry of Science and Innovation (MICINN; PGC2018-099697-B-I00 to F.G. and BFU2017-89308-P to J.V.), 'la Caixa' Foundation (ID 100010434 under the agreement LCF/PR/HR17/52150016 to F.G.), the Catalan Government (2017SGR534 to F.G. and J.V.) and the ERC (AdvG 670146 to J.V.) as well as the EMBL Partnership, the Severo Ochoa and CERCA Programs

Though the US passed the Genetic Information Non‐Discrimination Act, many questions remain of how individuals confronting genetic disease view and experience possible discrimination. We interviewed, for 2 hours each, 64 individuals who had, or were at risk for, Huntington's Disease, breast cancer, or Alpha‐1 antitrypsin deficiency. Discrimination can be implicit, indirect and subtle, rather than explicit, direct and overt; and be hard to prove. Patients may be treated "differently" and unfairly, raising questions of how to define "discrimination", and "appropriate accommodation". Patients were often unclear and wary about legislation. Fears and experiences of discrimination can shape testing, treatment, and disclosure. Discrimination can be subjective, and take various forms. Searches for only objective evidence of it may be inherently difficult. Providers need to be aware of, and prepared to address, subtle and indirect discrimination; ambiguities, confusion and potential limitations concerning current legislation; and needs for education about these laws. Policies are needed to prevent discrimination in life, long‐term care, and disability insurance, not covered by GINA.

Though the US passed the Genetic Information Non-Discrimination Act, many questions remain of how individuals confronting genetic disease view and experience possible discrimination. We interviewed, for 2 hours each, 64 individuals who had, or were at risk for, Huntington's Disease, breast cancer, or Alpha-1 antitrypsin deficiency. Discrimination can be implicit, indirect and subtle, rather than explicit, direct and overt; and be hard to prove. Patients may be treated "differently" and unfairly, raising questions of how to define "discrimination", and "appropriate accommodation". Patients were often unclear and wary about legislation. Fears and experiences of discrimination can shape testing, treatment, and disclosure. Discrimination can be subjective, and take various forms. Searches for only objective evidence of it may be inherently difficult. Providers need to be aware of, and prepared to address, subtle and indirect discrimination; ambiguities, confusion and potential limitations concerning current legislation; and needs for education about these laws. Policies are needed to prevent discrimination in life, long-term care, and disability insurance, not covered by GINA.

SummaryA high occurrence rate of consanguineous marriages may favour the onset and increased frequency of autosomal recessive diseases in a population. The population of Monte Santo, Bahia, Brazil, has a high frequency of rare genetic diseases such as mucopolysaccharidosis type VI, whose observed frequency in this population is 1:5000, while the incidence of this disease recorded in other regions of the world varies from 1:43,261 in Turkey to 1:1,505,160 in Switzerland. To verify the influence of consanguineous marriage on the increased frequency of observed genetic diseases in this population, the population structure and frequency of different types of marriage during different time periods were evaluated. A total of 9765 marriages were found in an analysis of parish marriage records from the city. Over three periods, 1860–1895, 1950–1961 and 1975–2010, the inbreeding rates were 37.1%, 13.2% and 4.2% respectively. Although there was a high rate of inbreeding, endogamic marriages were the dominant marriage type in all three periods. In the most recent period, there was an increase in the number of exogamous marriages and those among immigrants, but most of these occurred among individuals from cities that neighbour Monte Santo. The low rate of migration and high frequency of endogamic and consanguineous marriages show that growth of this population is predominantly internal and could explain the occurrence, and increase in frequency, of recessive genetic diseases in the city.

With a population of 1.4 billion, China shares the largest burden of rare genetic diseases worldwide. Current estimates suggest that there are over ten million individuals afflicted with chromosome disease syndromes and well over one million individuals with monogenic disease. Care of patients with rare genetic diseases remains a largely unmet need due to the paucity of available and affordable treatments. Over recent years, there is increasing recognition of the need for affirmative action by government, health providers, clinicians and patients. The advent of new next generation sequencing (NGS) technologies such as whole genome/exome sequencing, offers an unprecedented opportunity to provide large-scale population screening of the Chinese population to identify the molecular causes of rare genetic diseases. As a surrogate for lack of effective treatments, recent development and implementation of noninvasive prenatal testing (NIPT) in China has the greatest potential, as a single technology, for reducing the number of children born with rare genetic diseases.

Background: There is a high rate of consanguinity in Saudi Arabia; however, information on its relationship with genetic disorders is limited Aim of study: to study the relationship between consanguinity and the common inherited diseases in the eastern province of the Kingdom of Saudi Arabia. Material & Methods: An online questionnaire was used to obtain the data. SPSS v21 program was used to analyze that data with size of 294 samples. Results: The study findings in the eastern province of Saudi Arabia population with a high rate of consanguinity, it shows that there is a significant increase in the prevalence of hereditary diseases, like anemia, diabetes, cancer, cardiac problems, loss of sense and some other diseases. The main causes of consanguinity proved by the study were the couple agreement, following the traditions, and that people are not aware enough of the consequences. Conclusion: In a population with a high rate of consanguinity, an action was taken by Saudi Arabia government about making premarital test mandatory. Key words: Consanguinity. Genetic diseases. Eastern province.