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Protein Booster Could Help Treat Rare Genetic Diseases

Johns Hopkins scientists have developed an mRNA “booster” as a potential new way to treat rare genetic diseases marked by too low levels of specific cellular proteins.
Image of DNA helix, representing CRISPR gene editing technology.
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CRISPR Offers Faster, Accurate Diagnosis of Fungal Pneumonia

Researchers have developed a CRISPR-based test that diagnoses Pneumocystis jirovecii pneumonia (PJP) — a life-threatening fungal infection primarily affecting children and immunocompromised patients — more quickly and less invasively.
Two firefighters putting out a fire.
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Fighting Wildfires Alters Firefighters’ Genes

A University of Michigan study found genetic changes in firefighters exposed to wildland-urban interface fires. Researchers observed shifts in microRNAs linked to immune function, inflammation and cancer risk.
X chromosomes.
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"Silent" X Chromosome Gives the Aging Female Brain a Boost

Researchers may have discovered how the female brain remains resilient in aging, answering the age-old question of how most women outlive men and retain their cognitive abilities longer.
A graphic of a mitochondria, sliced in half to reveal the internal structures.
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Maintaining the Balance of Mitochondrial DNA Transcription and Replication

Researchers have now uncovered the role of mitochondrial transcription elongation factor in maintaining the balance between mtDNA transcription and replication.
Two large tomatoes.
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CRISPR Advances Unlock Genes for Bigger, Tastier Tomatoes and Eggplants

Johns Hopkins and Cold Spring Harbor researchers discovered genes controlling fruit size in tomatoes and eggplants. Using CRISPR gene editing, they modified key genes to grow larger fruits.
Bottles of different liquid medicines.
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Your Ancestry Can Impact How Medicines Taste

A study has found that bitterness ratings for five medicines differed by ancestry for two of the five drugs and the effectiveness of some modifiers. They also found genetic variants that explain population differences in reaction to bitter tastes.
Two scientists looking at a computer screen.
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69 New Genetic Causes of Rare Diseases Identified

A study using Genomics England’s 100,000 Genomes Project identified 69 new genetic variants linked to rare diseases, including kidney disease, diabetes and epilepsy. The findings could improve diagnoses and lead to new treatments.
3D rendered image of blue DNA helix.
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Discovering the Genetic Drivers of Aggressive Prostate Cancer

Scientists from UCLA, the University of Toronto and the University of Melbourne have uncovered new genetic clues that explain why some prostate cancers remain slow-growing while others become life-threatening.
Chromosome with orange lines wrapped around, illustrated gene editing.
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Can CRISPR Offer a Cure for Prader-Willi Syndrome?

Recent research from Duke University has demonstrated a promising new approach that could be used to treat a rare and complex class of genetic diseases, such as PWS, caused by defects in a relatively large region of the genome.
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