Articles on Genetic disorder
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Norway has banned first-cousin marriages, but an ethicist explains why the UK shouldn’t follow suit.
What might an updated newborn screening program look like?
Children with childhood dementia progressively lose all previously acquired skills and abilities, such as talking, walking, learning, remembering and reasoning.
Fragile X syndrome is the most common inherited form of intellectual disability. Using short bits of DNA to fix improperly transcribed genes may one day be a potential treatment option.
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.
Gene therapies and vaccines are often injected into muscle cells that are inefficient at producing desired proteins. Making them work more like liver cells could lead to better treatment outcomes.
Of the 20 million people living with sickle cell disease globally, more than 66% are in sub-Saharan Africa.
Deciphering the biological pathways behind rare genetic diseases often involves assembling a team of specialists to work closely with the family members of those affected.
16p11.2 deletion or duplication syndrome occurs in three out of every 10,000 people.
Haemochromatosis is more severe than previously thought and is often diagnosed too late. But the treatment is simple.
South African geneticists and international counterparts have traced the origins of a genetic peeling disorder, Oudtshoorn skin, and discovered the mutation that causes it.
1 in 2,000 people are born with 22q, yet the rest of society hardly knows about it.
It seems like a no brainer to edit out genetic disease…until we pause to consider what would be lost.
Tomcat, a play by James Rushbrooke, portrays a dark future where there is no place for neurodiversity. Is this our future?
The vast majority of people can probably tell you that autism is associated with problems relating to others and interacting socially. Far fewer people will be able to tell you about another developmental…













