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Renowned Anthropologist
Renowned Anthropologist
Jane Goodall: The Woman Who Redefined Humanity’s Bond with Nature
October 04, 2025
How a young girl with a dream became the world’s voice for chimpanzees and conservation. Intr[...]
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Featured Posts
Improved Prime Editing System Enables Gene-Sized Edits in Human Cells at Therapeutic Levels
The largest and most diverse study on recessive genetic changes in developmental disorders reveals that over 80% of cases caused by recessive variants are linked to known genes. Researchers analyzed data from nearly 30,000 families and found that a shift in focus from gene discovery to interpreting changes in known genes could double diagnosis rates. • The study highlights the importance of genetic background in diagnosis and suggests that some patients may have multiple contributing genetic factors. These findings could lead to more personalized and accurate diagnoses for families affected by developmental disorders. • They include Joubert syndrome, Bardet-Biedl syndrome and TaySachs disease. Until now, overall quantification of these recessive genetic causes across diverse populations has not been done. • The team found the number of patients affected by recessive genetic variants varied greatly between different ancestry groups, ranging from two to 19 per cent of cases. This variation is strongly linked to the prevalence of unions between close relatives – consanguinity – in these groups.
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