Climate hazards, including extreme heat, are associated with increased risks of developing complications that lead to adverse maternal and perinatal outcomes. These may include multiple causes of maternal and neonatal morbidity and mortality such as gestational diabetes, hyper tensive disorders of pregnancy, preterm birth, low birth weight and stillbirth. In …
Efforts to make heritable changes to the human genome are fraught with uncertainty. Here’s what it would take to make the technique safe and acceptable. Original Source
Order of the Supreme Court of India in the matter of The United India Insurance Co. Ltd. Vs Jay Parkash Tayal dated 27/08/2018 regarding the right of insurers to reject claims on genetic disorders clause. Supreme Court stays the operation of the judgement of the Delhi High Court Order which …
The genetic causes of cancer include both somatic mutations and inherited germline variants. Large-scale tumor sequencing has revolutionized the identification of somatic driver alterations but has had limited impact on the identification of cancer predisposition genes (CPGs). Here we present a statistical method, ALFRED, that tests Knudson’s two-hit hypothesis to …
Acute infectious and chronic diarrheal diseases are important public health problems. A recent study by Fiskerstrand and colleagues identified a family with a rare early onset familial diarrhea. By linkage analysis and exon sequencing, the authors identified a heterozygous missense mutation in GUCY2C, encoding the guanylate cyclase C receptor, which …
Increased intestinal hydration by activation of the epithelial enzyme linked receptor guanylate cyclase C (GC-C) is a pharmacological principle for treating constipation. Activating mutations in the GUCY2C gene encoding GC-C cause Familial GUCY2C diarrhea syndrome (FGDS) which has been diagnosed with severe dysmotility. Original Source
Congenital sodium diarrhoea (CSD) refers to a form of secretory diarrhoea with intrauterine onset and high faecal losses of sodium without congenital malformations. The molecular basis for CSD remains unknown. We clinically characterised a cohort of infants with CSD and set out to identify disease-causing mutations by genome-wide genetic testing. …
Familial diarrhea disorders are, in most cases, severe and caused by recessive mutations. We describe the cause of a novel dominant disease in 32 members of a Norwegian family. The affected members have chronic diarrhea that is of early onset, is relatively mild, and is associated with increased susceptibility to …
A rare disease is a health condition of particularly low prevalence that affects a small number of people compared with other prevalent diseases in the general population. India, like many other developing countries, currently has no standard definition of rare diseases and since there is no epidemmiological data, there are …
During the years prior to the turn of the century, scientific and medical attention for genetic disorders was mainly focused on understanding rare single-gene disorders, such as Huntington's disease, Duchenne muscular dystrophy, and cystic fibrosis (CF), as well as chromosomal abnormalities. The medical specialty of clinical genetics was established in …
Acute lymphoblastic leukemia (ALL) is the commonest childhood malignancy and is characterized by recurring structural genetic alterations. Previous studies of DNA methylation suggest epigenetic alterations may also be important, but an integrated genome-wide analysis of genetic and epigenetic alterations in ALL has not been performed. We analyzed 137 B-lineage and …
Information available on the present status of genetic diseases in India is relatively meagre, considering the number and varieties of its populations. Data, based mainly on those from uurban referral units, suggest that the incidence is fairly high with the preponderance of certain defects in particular areas and subpopulations. Original …
Chromosomal abnormalities are frequent events. Globally, at least 7.6 million children are born annually with severe genetic or congenital malformations. Precise prevalence data are difficult to collect, especially in India, owing to great diversity of conditions and also because many cases remain undiagnosed. Genetic and congenital abnormality is the second …
The population of India is extremely diverse comprising of more than 3,000 ethnic groups who still follow endogamy. Haemoglobinopathies are the commonest hereditary disorders in India and pose a major health problem. The data on the prevalence of β-thalassemias and other haemoglobinopathies in different caste/ethnic groups of India is scarce. …
Leber congenital amaurosis (LCA) is the most severe form of inherited retinal visual impairment in children. So far, mutations in more than 20 genes have been known to cause LCA and among them, RPE65 is a suitable candidate for gene therapy. The mutational screenings of RPE65 and other LCA genes …
Controversy surrounding the true toll and disease burden caused by fallout from the Chernobyl nuclear disaster in 1986 has resurfaced following the release of a new study.
Genome editing tools such as the clustered regularly interspaced short palindromic repeat (CRISPR)-associated system (Cas) have been widely used to modify genes in model systems including animal zygotes and human cells, and hold tremendous promise for both basic research and clinical applications. To date, a serious knowledge gap remains in …
In a world first, Chinese scientists have reported editing the genomes of human embryos. The results are published in the online journal Protein & Cell and confirm widespread rumours that such experiments had been conducted — rumours that sparked a high-profile debate last month about the ethical implications of such …
Inflammatory bowel disease (IBD) has become common in the Western world, but its causes remain unclear. With the dramatic increase of cases in Asia in recent years—echoing the disease’s drastic rise in the West decades earlier—investigators have another shot at studying environmental contributors to IBD as it emerges in new …
Three decades after the Bhopal gas lead killed a few thousand people overnight, the struggle continues for its survivors. A number of issues concerning the survivors of the disaster, termed the biggest industrial accident in history, seemed close to resolution this year, but none was resolved.
Nearly 60 years ago thalidomide was prescribed to treat morning sickness in pregnant women. What followed was the biggest man-made medical disaster ever, where over 10,000 children were born with a range of severe and debilitating malformations. Despite this, the drug is now used successfully to treat a range of …
