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 …
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
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 …
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. …
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 …
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 …
In July 1956, in a fishing village near the city of Minamata on Japan’s Shiranui Sea, a baby girl named Shinobu Sakamoto was born. Her parents soon realized something was wrong. At 3 months old, when healthy babies can hold up their heads, Sakamoto could not. She grew slowly and …
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 …
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 …
Prabhmol Singh loves the sun. Every day, when the 20-year-old wakes up, he hurries through the morning with an eye on the lone chair out on the balcony. As soon as he finishes the last bite of his breakfast, he is out of the door, seated on the chair, face …
The first-ever case of an exceptionally rare genetic disorder involving sudden fever induced death of three infants in a family. There is no previous case of the disease in India. The study published in the latest issue of Journal of Medical Genetics marks a huge step forward in the diagnosis …
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. …
In 1965, health authorities in Camberwell, a bustling quarter of London's southward sprawl, began an unusual tally. They started to keep case records for every person in the area who was diagnosed with schizophrenia, depression, bipolar disorder or any other psychiatric condition. Decades later, when psychiatrists looked back across the …
If you are a high-pressure executive, beware of your amygdala. That almond-shaped fear centre deep inside your brain gets jittery every time you log 60-plus hours a week, face 24x7 demands, unpredictable work-flows, endless jet lags, flexible global hours, late nights or sleeplessness. It puts your brain on alert and …
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 …
