After sifting through DNA from almost 10,000 people from ancient and pre-modern societies, we have discovered six cases of Down syndrome in past human populations.
Joaquin Espinosa, University of Colorado Anschutz Medical Campus
People with Down syndrome have an extra chromosome 21. Understanding the effects of those triplicated genes could help improve the health of those with Down syndrome and other medical conditions.
People with Down syndrome are at much higher risk of dementia than the general population. Knowing when cognitive changes start is critical for developing new drugs.
Family is not a clearly defined structure in the story: It isn’t biological or reflective of some ‘norm.’ It is instead a choice to stick together, come what may.
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?
There are several problems with the recently released guidelines for diagnosing autism. But the fundamental issue is that we’re striving for diagnosis first, and help later.
Gina Ravenscroft, The University of Western Australia; Nigel Laing, The University of Western Australia, and Royston Ong, The University of Western Australia
Most of us will be carriers of recessive genes that cause disease. If our partner carries the same gene we could pass it on to our kids. Testing exists, but what are the pros and cons?
Characters with Down syndrome are extremely rare in novels and rarer still are stories written from their point of view. But people with disabilities have an equal right to belong in narrative fiction.
The details of a surrogacy case involving an Australian couple commissioning a pregnancy in Thailand have created outrage in all sorts of quarters. But the father’s admission that he would have asked the…
Alzheimer’s disease is typically a disease of later life, and age is the biggest known risk factor for the condition. But babies with Down syndrome, who always develop brains like those with Alzheimer’s…
“Fuck you, Wing, your sister has Down syndrome!” These words were once hurled at NSW rugby league star Craig Wing while he was playing for the Sydney Roosters against the Canterbury Bulldogs at the Sydney…