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Stem cell study illuminates the cause of an inherited heart disorder
A microscopic look at an iPSC-cardiomyocyte harboring an LMNA mutation.

Pictured, an iPSC-cardiomyocyte harboring an LMNA mutation. Researchers at Penn studied how mutations in LMNA impact how DNA is organized in the cell. (Image: Penn Medicine News)

Stem cell study illuminates the cause of an inherited heart disorder

A new study from Penn Medicine shows that LMNA gene mutations can disrupt the ‘identity’ of heart muscle cells, leading to a congenital form of dilated cardiomyopathy.

From Penn Medicine News

A patient-powered registry boosts the study of a rare disease
Floating graphic of digital medical imagery against a background of a medical professional’s hands and torso.

A patient-powered registry boosts the study of a rare disease

A registry for Castleman disease lets patients initiate enrollment, increasing enrollment rates as well as the amount of clinical data and samples available to researchers.

Melissa Moody

Patients in cancer remission at high risk for severe COVID-19 illness
African American person wearing a face mask having their temperature taken via forehead scanner by a masked, gloved medical professional.

Patients in cancer remission at high risk for severe COVID-19 illness

Patients with inactive cancer and not currently undergoing treatments also face a significantly higher risk of severe illness from COVID-19, with Black cancer patients twice as likely to test positive for the virus.

Steve Graff

Vision researchers honored by End Blindness 2020
Trio of photos of vision researchers Gustavo Aguirre, Jean Bennett and Albert Maguire

Gustavo Aguirre, Jean Bennett, and Albert Maguire

Vision researchers honored by End Blindness 2020

The Outstanding Achievement Prize highlights the contributions of the School of Veterinary Medicine’s Gustavo D. Aguirre and the Perelman School of Medicine’s Jean Bennett and Albert M. Maguire toward a gene therapy for a form of blindness.

Katherine Unger Baillie

Key genes and cell pathways may be treatment targets for rare female lung disease
Microscopic lymphangioleiomyomatosis cells

Microscopic view of lymphangioleiomyomatosis muscle cells. 

Key genes and cell pathways may be treatment targets for rare female lung disease

New research out of the Perelman School of Medicine finds that a deleted gene may be responsible for activating signaling pathways for lymphangioleiomyomatosis, and targeting the pathways may be a way to treat it.

From Penn Medicine News

The sociology and science of genomes and biomes
Microscopic rendering of the human microbiome, genetic material of all the microbes that live on and inside the human body.

The sociology and science of genomes and biomes

Rebecca Mueller studies how infectious microbes like the coronavirus can affect communities of people with genetic vulnerabilities.

From Omnia

Away from the lab bench, Khoa Tran is a ‘science superhero’
Three-panel comic strip called E. Coli Chronicles, A Magical Friendship

Away from the lab bench, Khoa Tran is a ‘science superhero’

The research fellow in the Berger Lab and co-founder of JKX Comics makes science and STEM disciplines more accessible by translating abstruse concepts into approachable comics.

The Pennsylvania Gazette

Progress toward a treatment for Krabbe disease
Sequence of 8 MRI images showing treated versus untreated brains from 16 to 52 weeks

Treating dogs with Krabbe disease, a rare and fatal condition that also affects infants, with a gene therapy targeted to the brain led to remarkable results in a study led by a team from the School of Veterinary Medicine. (Image: Courtesy of Charles Vite)

Progress toward a treatment for Krabbe disease

The inherited disease, which typically kills children before their second birthday, has no cure, but a School of Veterinary Medicine study in a canine model offers hope for an effective gene therapy with lasting results.

Katherine Unger Baillie