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tag down syndrome genetics genomics culture

2022 Top 10 Innovations 
2022 Top 10 Innovations
The Scientist | Dec 12, 2022 | 10+ min read
This year’s crop of winning products features many with a clinical focus and others that represent significant advances in sequencing, single-cell analysis, and more.
Illustration showing a puzzle piece of DNA being removed
Large Scientific Collaborations Aim to Complete Human Genome
Brianna Chrisman and Jordan Eizenga | Sep 1, 2022 | 10+ min read
Thirty years out from the start of the Human Genome Project, researchers have finally finished sequencing the full 3 billion bases of a person’s genetic code. But even a complete reference genome has its shortcomings.
Recent Trials for Fragile X Syndrome Offer Hope
Randi Hagerman | Sep 1, 2019 | 10+ min read
Despite a solid understanding of the biological basis of fragile X syndrome, researchers have struggled to develop effective treatments.
Fish in a big blue aquarium
Microbes Responsible for Stealing Aquarium Medicine
Amanda Heidt | Feb 1, 2022 | 6 min read
Researchers discover that bacteria break down medicinal compounds for their nitrogen, solving a mystery that has vexed aquatic veterinarians for years.
Cas9 enzyme
Molecular Glue ‘Shreds’ Cas9 and Enables a New Form of CRISPR Control
Ida Emilie Steinmark, PhD | Apr 26, 2023 | 3 min read
In a bid to address safety concerns about immune reactions during treatment with CRISPR-based therapeutics, a new technique speeds up how quickly the body destroys the DNA-cutting enzyme Cas9.
3d rendered medically accurate illustration of a human embryo anatomy
The Ephemeral Life of the Placenta
Danielle Gerhard, PhD | Dec 4, 2023 | 10+ min read
Recent advances in modeling the human placenta, the least understood organ, may inform placental disorders like preeclampsia.
Advances in the functional characterization of newly discovered microproteins hint at their diverse roles  in health and disease
The Dark Matter of the Human Proteome
Annie Rathore | Apr 1, 2019 | 10 min read
Advances in the functional characterization of newly discovered microproteins hint at diverse roles in health and disease.
The Human Genome
Arielle Emmett | Jul 23, 2000 | 10+ min read
Life sciences took center stage virtually around the world June 26. President Bill Clinton, flanked on the left by Celera Genomics Group president J. Craig Venter and on the right by National Human Genome Research Institute director Francis S. Collins, announced the completion of "the first survey of the entire human genome."
A rendering of a human brain in blue on a dark background with blue and white lines surrounding the brain to represent the construction of new connections in the brain.
Defying Dogma: Decentralized Translation in Neurons
Danielle Gerhard, PhD | Sep 8, 2023 | 10+ min read
To understand how memories are formed and maintained, neuroscientists travel far beyond the cell body in search of answers.
Music, the Brain, and Williams Syndrome
Brendan Maher | Nov 25, 2001 | 9 min read
Gloria Lenhoff is a 46-year-old lyric soprano singer who has performed with such diverse groups as the San Diego Master Chorale and members of Aerosmith. She can sing nearly 2,500 songs in more than 25 languages, reportedly in a perfect accent. She even has perfect pitch. But the rest of her world is not perfect. Gloria is affected by a rare genetic disorder called Williams syndrome. With an IQ of about 55, Gloria literally cannot subtract three from five or make change for a dollar. But what

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