در یک مورد پزشکی، یک نوزاد مبتلا به یک بیماری ژنتیکی نادر و کشنده قبل از تولد از طریق آنزیم های درمانی تزریق شده به بند ناف او با موفقیت درمان شد.

پس از رونویسی، مولکول های RNA می توانند دستخوش تغییرات شوند. به عنوان مثال، نوکلئوتیدها ممکن است اضافه، حذف یا دچار تغییر شوند. یکی از رایج‌ترین ویرایش‌ها که تحقیقات جدید نشان می‌دهد نقش مهمی در شروع بیماری التهابی دارد، تبدیل نوکلئوتید آدنوزین به اینوزین در یک RNA دو رشته‌ای است. مطالعه‌ای که چهارشنبه (3 اوت) در Nature منتشر شد، نشان می‌دهد که انواع ژنتیکی که این اصلاح خاص را کاهش می‌دهند با افزایش خطر اختلالات التهابی خودایمنی و با واسطه ایمنی مانند پسوریازیس، بیماری التهابی روده و دیابت نوع 1 مرتبط هستند.

سمینار "اصلاح ژنومی با استفاده از سیستم CRISPR-Cas9: اصول و کاربردها" با ارائه دکتر رضا ندایی نیا روز سه شنبه مورخ 26 مهرماه1401 در تالار هشت گوش دانشکده پزشکی با حضور جمعی از اساتید و دانشجویان برگزار شد.

با ظهور توالی یابی سریع کل ژنوم، به کودکانی که با ناتوانی ذهنی یا تاخیر رشدی مراجعه می کنند، توصیه می شود که توالی یابی DNA برای شناسایی علت ژنتیکی زمینه ای انجام شود.

"There is growing recognition that a genetic test is not a simple blood test where you get a yes or no answer. With this statement, we illustrate some of that complexity, particularly as it relates to cardiovascular diseases passed from parents to children," said Andrew P. Landstrom, M.D., Ph.D., FAHA, chair of the statement writing group, a pediatric cardiologist, a cardiovascular geneticist and an assistant professor of pediatrics and cell biology at Duke University School of Medicine in Durham, North Carolina.

Some rare cases of higher genetic mutation rates in children, known as hypermutation, could be linked to the father receiving certain chemotherapy treatments, new research has found.

Scientists from the Wellcome Sanger Institute and their collaborators analysed over 20,000 families' genetic information and identified 12 children with between two to seven times more mutations than the general population. The team linked the majority of these to increased .mutations in the sperm of the biological father

Cells from the same individual share the same genome but do not express the same genes. Each cell type expresses a different set of genes, which allows it to exert a unique function. This is regulated by the epigenome -- chemical modifications of genome (including DNA methylation), which can turn genes on or off. Besides its central role in regulating development, the epigenome also allows cells to respond to environmental factors.

Scientists have identified a new genetic disease, which causes some children's brains to develop abnormally, resulting in delayed intellectual development.

The majority of patients with the condition, that is so new it doesn't have a name yet, have severe learning difficulties which affect their quality of life.

The development of an embryo is a well-orchestrated string of processes, ensuring correct formation and positioning of vital organs of the growing organism. At the molecular level, these processes are controlled in a precise manner by switching on or off specific factors such as genes or proteins. Any errors in these processes could result in physical defects or disease in the newborn organism.

For the 1 to 3 million Americans with type 1 diabetes, the immune system destroys insulin-producing beta cells of the pancreas that control the amount of glucose in the bloodstream. As a result, these individuals must monitor their blood glucose often and take replacement doses of insulin to keep it under control. Such constant attention, combined with a strict diet to control sugar intake, is challenging—especially for children.