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University of Pennsylvania School of Medicine


APOL1 gene speeds kidney disease progression and failure in blacks, regardless of diabetes status

African Americans with APOL1 gene variant experience faster chronic kidney disease progression and increased risk of kidney failure compared to those without the variant. The study found that APOL1 risk variants increase CKD progression in African Americans, regardless of their diabetes status.

SourceUniversity of Pennsylvania School of Medicine·JournalNew England Journal of Medicine·DateNov 11, 2013

First genetic mutations linked to atopic dermatitis identified in African-American children

Researchers have identified two genetic variations associated with persistent atopic dermatitis in African-American children, shedding light on the skin disorder's mechanisms. The study found that loss-of-function mutations to Filaggrin-2 were linked to increased risk of AD in African American children.

SourceUniversity of Pennsylvania School of Medicine·JournalJournal of Allergy and Clinical Immunology·DateNov 11, 2013

Penn docs find successful strategy to expand patient participation in hard-to-enroll clinical trials

Researchers at Penn Medicine found that focusing on factors like hope, randomization, and altruism can increase patient willingness to participate in clinical trials for malignant pleural mesothelioma. The study showed a significant increase in participation rates when physicians spent more time discussing these factors with patients.

Penn study shows the high costs of unnecessary radiation treatments for terminal cancer patients

A new study published in JAMA found that over 95% of advanced prostate cancer patients receive multiple radiation treatments for pain control, despite the equivalent effectiveness of single treatments. The study reveals substantial cost savings with single-fraction treatment, with mean radiotherapy-related expenditures 62% lower for pa...

Possible links: Epigenetics, aging, nucleus protein mutations to cancer, rare disorders

A study from the University of Pennsylvania School of Medicine reveals that epigenetic factors play a role in senescence, a process linked to normal aging and tumor suppression. The researchers found large-scale changes in gene expression and chromatin architecture when a nuclear protein called lamin B1 is deleted in senescent cells.

SourceUniversity of Pennsylvania School of Medicine·JournalGenes & Development·DateAug 30, 2013

Comprehensive Parkinson's biomarker test has prognostic and diagnostic value

Researchers at the University of Pennsylvania School of Medicine have developed a comprehensive test for protein biomarkers in spinal fluid that shows prognostic and diagnostic value in early stages of Parkinson's disease. The study found that patients with lower levels of tau and alpha synuclein had greater motor dysfunction, while th...

Researchers agree that Alzheimer's test results could be released to research participants

A survey of 139 Alzheimer's clinical trial leaders found that a majority supported disclosing test results to study participants, citing the need for guidance and counseling. The study suggests that as biomarkers improve, experts want to share valid results with participants, while also addressing potential harms and benefits.