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The hugely popular "Ice Bucket Challenge" funded a study that has discovered an important new amyotrophic lateral sclerosis gene. The study

‘Ice Bucket Challenge’ Led to Significant ALS Gene Discovery

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Money raised during the campaign helped scientists ID gene linked to amyotrophic lateral sclerosis
Variations in the APOE gene may start to show effects on brain structure and mental acuity as early as preschool

Effects of APOE Gene May Be Apparent in Childhood

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Findings may lead to earlier interventions, preventive measures for future brain injuries, dementia
A genetic test may one day be able to predict the risk for Alzheimer's disease in young adults

Risk Score Could Help ID Alzheimer’s Risk in Young Adults

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Score also associated with worse memory, clinical progression in older adults
The magnitude of the association between a multilocus genetic risk score for body mass index and BMI is larger for individuals born in later birth cohorts

Genetic Risk Score Impact on BMI Varies Across Birth Cohorts

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Larger magnitude of association between genetic risk score for BMI and BMI in later birth cohorts
Patients with osteogenesis imperfecta have an elevated risk of death

Elevated Risk of Death for Osteogenesis Imperfecta

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Higher risk of death from respiratory diseases, gastrointestinal diseases, and trauma
Limiting first trimester screening (FTS) by cell-free fetal (cff) DNA to only patients in certain risk categories may be a feasible cost-containing strategy

Two-Stage Screening Could Be Cost-Effective for Trisomy

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Cost-benefit analysis of hypothetical model based on implementation of cell-free fetal DNA
Patients with heterozygous familial hypercholesterolemia have a significantly increased risk for coronary heart disease and atherosclerotic cardiovascular disease

CVD Risks Way Up in Familial Hypercholesterolemia

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Clinician-patient discussions on guideline-supported therapies can be informed by data
Women with BRCA mutations undergoing risk-reducing salpingo-oophorectomy do not have increased risk for uterine cancer

BRCA1 Mutations May Raise Risk of Serous/Serous-Like Uterine CA

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Although overall risk for uterine cancer after risk-reducing salpingo-oophorectomy not increased
For patients with minor ischemic stroke or transient ischemic attack

Clopidogrel Plus Aspirin Good for Noncarriers of CYP2C19 Variants

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Reduction in risk of new stroke for clopidogrel plus aspirin in those not carrying loss-of-function alleles
Patients with multiple system atrophy have reduced levels of coenzyme Q10

Coenzyme Q10 Levels Linked to Multiple System Atrophy

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Decreased levels of plasma CoQ10 in patients with MSA, regardless of genotype