UK to Study DNA of 100000 Newborns babies Looking for Rare Diseases

100000 Newborns babies Looking for Rare Diseases

Newborns babies Rare Diseases: Almost 100,000 newborn babies will have their whole genomes sequenced as part of a £105 million ($128.7 million) study to see if the practice can reduce the burden of rare genetic diseases in the UK.

UK to Study DNA of 100000 Newborns babies Looking for Rare Diseases
Image credit – pexels


The research, led by Genomics England in partnership with the National Health Service, will test whether sequencing is a cost-effective way to prevent and treat childhood diseases. It will be funded as part of a £175 million support package for genetics research from the Department of Health and Social Care announced on Tuesday.

The program will run in addition to the heel prick blood test that is part of current newborn screening, which screens for nine rare diseases. The new project will analyze the entire DNA of the child, and possibly both parents if the anomaly is found, looking for genes that are known to be associated with nearly 200 rare diseases that begin within the first five years of life. Adult-onset illness will not be assessed.

Some conditions tested for can be more easily treated if caught early, which can improve health and save the NHS money. David Bick, the project’s clinical advisor, gave an example of biotinidase deficiency – a rare inherited disorder that affects the absorption of the mineral biotin. If left untreated, it can lead to seizures, developmental problems, and skin disorders, among other problems. In any case, if diagnosed early enough, the condition can be treated with biotin supplementation.

We can prevent a condition that can harm a child and take a long time to figure it out. It is a family important and very satisfying.

The first families will be recruited at the end of next year, with the study expected to last several years.

Researchers estimate that about 3,000 babies are born nationally a year who could be helped by such screening. However, these numbers may be artificially inflated due to the presence of false positives in testing.

Some experts have expressed concern about casting a wide net for potential anomalies, including results that may be difficult to interpret or disorders for which there is no treatment. Peter Braude, professor of obstetrics and gynecology at King’s College London, said the test was “not foolproof”, particularly as the parents’ genomes would be analysed.

It has potential medical implications for parents and their extended family — something they didn’t sign up for, he said.

Louise Fish, chief executive of Genetic Alliance UK, said the country should try to get better value from its current newborn screening programme. There are 20 European countries using the heel-prick test to screen for more conditions than the UK, and 13 of these are screening for 20 or more conditions, he said.

A DNA test at birth which predicts the risk of inherited diseases is being launched by the NHS.

Whole genome sequencing diagnoses conditions such as cystic fibrosis and epilepsy so that they can be treated early.

Many serious conditions are missed by the heel prick test at birth and the new test could save 3,000 babies a year, according to Genomics England.

It will be offered to 100,000 volunteer families in 30 NHS trusts next year and if the pilot is successful, the NHS will be the first in the world to introduce whole genome sequencing of newborns nationwide.

The DNA test, which costs just under £1,000, detects the “highly likely” condition to develop in children before the age of five.

Early treatment can make them less life-threatening — or even prevent them.

One in 260 of the 700,000 babies born in the UK each year will be diagnosed with a serious rare disease in their first five years which can be tackled. Health Secretary Steve Barclay said the project would “reinforce our status as a life sciences superpower”.

The NHS is a world leader in genomics.The potential for genomics to revolutionize the way we deliver healthcare is tremendous.

The heel prick test flags nine diseases, which increases to 200 with genome testing.

Some types of epilepsy can be treated by simply using a 6p vitamin pill to help prevent brain damage.

Disclaimer The information on this site is for educational purposes only, It is not intended to be a substitute for treatment by a healthcare professional. Readers should seek medical advice for any of their problems.

Leave a Comment

15 Astonishing Facts About National Treasure’s Historic Preakness Win Top 15 Surprising Facts About Arsenal’s Defeat The top 10 Best hottest actresses in Hollywood Top 10 Most Beautiful Chinese Girls Rakhi Sawant Mother Death: सलमान खान का नाम लेते हुए कहीं ये बात