Genetic research

[~ True Legend ~]

Excellent news! Thousands have finally been given a genetic disorder diagnosis. Now people can get the support they deserve.

Thousands receive diagnosis after 60 new diseases found

Study analysed the DNA of families with unexplained, severe development disorders.

www.bbc.co.uk

Having a diagnosis can lead to better care, help parents to decide whether to have more children, or simply provide an explanation for what is happening.
Taken individually the disorders are rare, but collectively they affect one in every 17 people in the UK.

 

[passenger]

Thanks for posting this! Very important progress. Research for treatments and cures of "orphan" illnesses is so underfunded; this news has got to help.

Around a quarter of children in the study had their treatment changed once a clear diagnosis was given.

 

[PGen98]

That is good news for those suffering, hopefully the next step is a treatment and cure for each one!

 

[~ True Legend ~]

Scientists have produced an updated map of all human DNA which could help to transform medical research.

Updated DNA map better reflects human diversity

Researchers produce a new version of the human genome that could improve medical treatments.

www.bbc.co.uk

The original human genome, published 20 years ago, is mostly from one person, and does not represent human diversity.

The latest version - dubbed the pangenome - is made up of data from 47 people from Africa, Asia, the Americas and Europe.

It is hoped it will lead to new drugs and treatments that work for a much wider range of people.

Great stuff. Equity is SO important.

 

[~ True Legend ~]

A baby has been born using three people's DNA for the first time in the UK, the fertility regulator has confirmed.

Baby born from three people's DNA in UK first

Most of the baby's DNA comes from their two parents, with a small percentage from a donor.

www.bbc.co.uk

Most of their DNA comes from their two parents and around 0.1% from a third, donor woman.

The pioneering technique is an attempt to prevent children being born with devastating mitochondrial diseases.

Up to five such babies have been born, but no further details have been released.

Mitochondria are the tiny compartments inside nearly every cell of the body that convert food into useable energy.

Defective mitochondria fail to fuel the body and lead to brain damage, muscle wasting, heart failure and blindness.

They are passed down only by the mother. So mitochondrial donation treatment is a modified form of IVF that uses mitochondria from a healthy donor egg.

However, mitochondria have their own genetic information or DNA which means that technically the resulting children inherit DNA from their parents and a smidge from the donor as well. This is a permanent change that would be passed down through the generations.

More great stuffs.

 

[Fait]

That is good news for those suffering, hopefully the next step is a treatment and cure for each one!

can agree with that statement

 

[Nebulous]

Awesome news!

 

[~ True Legend ~]

Awesome news!

It really is!