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Newborn screening and early treatment for spinal muscular atrophy can save both lives and money

Newborn screening and early treatment for spinal muscular atrophy can save both lives and money
Gene therapy for spinal muscular atrophy might have a high up-front price tag. But by screening and treating infants early, the therapy can save both lives and money in the long term.
By the time an infant with SMA starts showing symptoms, they ve already lost 90 per cent of their nerves – which is why early detection and treatment is so important. Photo: Unsplash
Spinal muscular atrophy (SMA), a type of motor neurone disease, is one of the deadliest genetic illnesses an infant can be diagnosed with. Caused by a missing or faulty gene called ‘SMN1’, the disease causes muscles to shrink and become weaker, limiting a baby’s ability to sit, walk, crawl, or even hold their head up. ....

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Call for scientific community to increase diversity and inclusivity in medical research

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IMAGE: 95% of human cell lines used in countless medical research studies are of European descent.
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Credit: Peter Morris for Children s Medical Research Institute
Sydney, Australia; New York City, USA (May 13, 2021) In a collaborative report published today in
Cell, scientists from Sydney and New York describe the critical worldwide need to improve the diversity of cells used in medical research. Currently, 95% of all human cell lines used in research are of European descent. The authors provide actionable steps that researchers and the biomedical community can take to promote more inclusivity in preclinical and basic science research.
The commentary, Ancestry Matters: Building inclusivity into preclinical study design, is co-authored by Sophie Zaaijer, PhD, who co-founded FIND Genomics (findgen.bio), a company that aims to improve reproducible cell-based science through its genetic cell tracking software FIND Cell , and is ....

New York , United States , New Zealand , New South Wales , Monique Cowper , Tyler Joseph , Sophie Zaaijer , York Genome Center , Children Medical Research Institute , Westmead Research Hub , Luminesce Alliance , Jacobs Technion Cornell Institute At Tech , University Of Sydney , New York City , Cornell Tech , Amanda Capes Davis , Medical Research Institute , Cellbank Australia , Black Lives Matter , Ashkenazi Jewish , African American , New York Genome Center , Nicolas Robine Phd , Computational Biology , New York Genome , New York City Based ,