Cancer Survivors Lead the Way in Genetic Testing, but Rural Gaps Persist, National Survey Finds
A nationally representative study of more than 27,000 U.S. adults finds that a personal cancer history strongly increases engagement with ...
Tag: genetic testing
Rare Genetic Kidney Disease and Tethered Cord Collide in a Seven-Year-Old Girl
A first-of-its-kind case report describes a seven-year-old girl with genetically confirmed nephronophthisis type 1 complicated by tethered cord, whose kidney ...
Three NHS Genetics Labs Fail to Share Variant Data Vital for Rare Disease Diagnosis
A BMJ investigation finds that three of England's seven NHS genetics laboratories are failing to routinely submit genetic variants to ...
Hidden Gene Deletions Explain Severe Friedreich Ataxia Cases Misdiagnosed by Standard Testing
Researchers have identified covert deletions of the proximal FXN gene that standard testing mistakes for identical repeat expansions, revealing a ...
Singapore’s Nationwide Genetic Carrier Screening Program Offers a Blueprint for Diverse Asian Populations
A nationwide reproductive carrier screening program in Singapore using a customized 112-gene panel has identified at-risk couples while revealing how ...
NCCN Summit Puts Cancer Prevention and Screening at the Heart of Health Policy
The National Comprehensive Cancer Network's two-day Oncology Policy Summit in Washington, D.C. united leaders from the NCI, CDC, and advocacy ...
One Gene, Four Very Different Fates: Rare Wolfram Syndrome Cases Reveal Family Puzzle
A Palestinian family case series shows four girls with the same homozygous WFS1 mutation developing strikingly different Wolfram syndrome features, ...
Three Lab Clues Could Transform How Doctors Triage Childhood Hypercalcemia
A new editorial proposes a practical triage framework for pediatric inpatient hypercalcemia built on intact parathyroid hormone, age, and urinary ...
Guidelines Told Surgeons to Stop, But Rates of Preventive Mastectomy Barely Budged
A decade after professional guidelines discouraged contralateral prophylactic mastectomy for average-risk breast cancer patients, a study of 6,203 women at ...
Hidden Lung Gene Mutation Behind Recurring Collapsed Lung Finally Identified
A 50-year-old woman with fifteen years of recurrent collapsed lungs was finally diagnosed with Birt-Hogg-Dubé syndrome after genetic sequencing revealed ...
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Mothers who receive childcare support from maternal grandparents show more parental warmth, finds NTU Singapore study
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University of Seville Breaks 120-Year-Old Mystery, Revises a Key Einstein Concept
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Bee body mass, pathogens and local climate influence heat tolerance
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Researchers record first-ever images and data of a shark experiencing a boat strike
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Groundbreaking Clinical Trial Reveals Lubiprostone Enhances Kidney Function
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