Articles on Genetic disease

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A complete human genome, seen here in pairs of chromosomes, offers a wealth of information, but it is hard connect genetics to traits or disease. HYanWong/Wikimedia Comons

Scientists are on a path to sequencing 1 million human genomes and use big data to unlock genetic secrets

The first full human genome was sequenced 20 years ago. Now, a project is underway to sequence 1 million genomes to better understand the complex relationship between genetics, diversity and disease.
Australians can now have their say on the issues around mitochondrial donation. From shutterstock.com

3‑parent IVF could prevent illness in many children (but it’s really more like 2.002‑parent IVF)

Should Australia allow the creation of babies with DNA from more than two people? This reproductive technology could prevent babies being born with mitochondrial disease, so the simple answer is yes.
A Chinese scientist claims he edited the DNA of twin girls during an in vitro fertilization procedure. CI Photos / Shutterstock.com

The road to enhancement, via human gene editing, is paved with good intentions

A Chinese scientist has revealed he edited the DNA of twin girls born through in vitro fertilization. These girls are designed to be resistant to HIV. Is the edit a medical necessity or an enhancement?
A standee of the movie ‘Rampage’ at a theater in Bangkok, Thailand. Scientists in the film used CRISPR to create a monster. By Sarunyu L/shutterstock.com

Here’s what we know about CRISPR safety – and reports of ‘genome vandalism’

CRISPR has been hailed as the an editing tool that can delete inherited mutations and cure disease. But recent papers suggest that the technique may be too dangerous for use in human therapies.
Couples who are carriers of genes for recessive diseases don’t show any symptoms. Photo by Drew Hays on Unsplash

What prospective parents need to know about gene tests such as ‘prepair’

Cystic fibrosis, spinal muscular atrophy and fragile X syndrome are serious diseases, and most couples carrying the genetic mutations for these don’t know it. Should they all be tested?
Canadians are overwhelmingly opposed to insurance companies having access to their genetic test results. A new Canadian law prevents insurers from using genetic information to determine coverage or pricing. (Shutterstock)

Why insurers are wrong about Canada’s genetic non‑discrimination law

Canadian insurance companies argue that a new law denying them access to genetic test results will raise the cost of insurance for everyone. That’s doubtful.
About 3% of babies are born with birth defects, when there is a problem with how they develop in the womb. from www.shutterstock.com

Why we don’t know what causes most birth defects

We still don’t know what’s behind four out of every five birth defects. But that can change.
Human genome editing raises a lot of questions. Gene sequence image via www.shutterstock.com.

Safe and ethical ways to edit the human genome

A new report from the National Academies of Science and Medicine outlines conditions that have to be met before gene editing that results in heritable genomic changes can be considered.
Future people would be grateful if their disease is cured, rather than being replaced by a different healthier or non-disabled person. sabianmaggy/Flickr

Five reasons we should embrace gene‑editing research on human embryos

Experts from around the world are in the US to discuss the scientific, ethical and governance issues linked to human gene editing. Here are five reasons they shouldn’t ban research in the field.
A visually impaired young girl reads a Braille notice. Retinal dysfunction results in one in 3 500 people suffering night blindness, loss of peripheral vision and later complete blindness. Reuters/Amr Abdallah Dalsh

Explainer: South Africa’s challenges in the search for genes causing eye disease

Today is the start of World Retinal Week. Establishing retinal degenerative disorders in Africa is challenged by the unique genetic diversity of Africans.

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