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Browsing Tag

rare disease

12 posts
SScience
Rare ABCA7 gene variants linked to Alzheimer’s risk
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Multiple protein forms from a single gene offer fresh insight into rare disease mechanisms

  • November 8, 2025
Iain Cheeseman and colleagues reveal the underappreciated role of single genes producing multiple proteins in atypical presentations of…
HHealthcare
GLP-1 goliath updates demand for top weight loss drug
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GLP-1 goliath updates demand for top weight loss drug

  • November 6, 2025
Novo Nordisk reported Q3 2025 earnings on November 5, showing continued strong demand for its weight-loss drug Wegovy,…
GGenetics
Newborn
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A Rogue Gene Explains Mysterious Cases of Diabetes and Epilepsy in Newborns

  • October 22, 2025
Credit: Wikimedia Commons When six infants around the world were diagnosed with an odd trio of symptoms (diabetes,…
GGenetics
Oxford Nanopore Announces PromethION Plus Flow Cell and Human Genetics Updates at ASHG 2025
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Oxford Nanopore Announces PromethION Plus Flow Cell and Human Genetics Updates at ASHG 2025

  • October 15, 2025
OXFORD, England, October 15, 2025–(BUSINESS WIRE)–At the American Society of Human Genetics (ASHG) 2025 industry session on 16th…
GGenetics
Baylor Genetics Presents New Data on Clinical and
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Baylor Genetics Presents New Data on Clinical and

  • October 15, 2025
HOUSTON, Oct. 15, 2025 (GLOBE NEWSWIRE) — Baylor Genetics, a clinical diagnostic laboratory at the forefront of genetic…
GGenetics
Baylor Genetics’ Chairman and CEO Kengo Takishima Named One of Houston Business Journal’s 2025 Most Admired CEOs
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Baylor Genetics to Showcase Clinical and Diagnostic Utility

  • October 10, 2025
HOUSTON, Oct. 08, 2025 (GLOBE NEWSWIRE) — Baylor Genetics, a clinical diagnostic laboratory at the forefront of genetic…
GGenetics
GeneDx Showcases Nearly 1M Exomes with 14 Studies at ASHG
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GeneDx Showcases Nearly 1M Exomes with 14 Studies at ASHG

  • October 8, 2025
10/08/2025…
GGenetics
GeneDx to Showcase Pioneering Research Findings at American Society of Human Genetics (ASHG) Annual Meeting
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GeneDx to Showcase Pioneering Research Findings at American Society of Human Genetics (ASHG) Annual Meeting

  • October 8, 2025
With unmatched scale and diversity, GeneDx Infinityâ„¢ powers scientific discovery while enabling the most precise clinical rare disease…
GGenetics
One-size-fits-(nearly)-all fix for V2R mutations
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One-size-fits-(nearly)-all fix for V2R mutations

  • October 4, 2025
Genetic/congenital Genetic mutations are the primary cause of most rare diseases. Although each condition affects a small fraction…
HHealth
Correlation Between Diabetes and Risk of Uveitis Confirmed in Recent Study
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Correlation Between Diabetes and Risk of Uveitis Confirmed in Recent Study

  • September 11, 2025
Darren Jindal, PhD | Image Credit: Case Western Reserve University School of Medicine Patients with type 1 or…
GGenetics
Saol Therapeutics hit with CRL for rare genetic disease
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Saol Therapeutics hit with CRL for rare genetic disease

  • September 10, 2025
The U.S. FDA issued a complete response letter (CRL) for the NDA to privately held Saol Therapeutics Inc.’s…
HHealth
Emphysema During Lung Cancer Screening Predicts All-Cause Mortality up to 25 Years Later
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Emphysema During Lung Cancer Screening Predicts All-Cause Mortality up to 25 Years Later

  • September 10, 2025
Claudia I. Henschke, PhD, MD Credit: Mount Sinai Baseline emphysema at low-dose chest CT (LDCT was predictive of…
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