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Division of Human Genetics News & Announcements
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Published on Mar 21, 2025 in Cornerstone Blog
This week’s In The News highlights the legacy of Dr. Audrey Evans, newly elected AACR fellows, and a novel approach for rare disease.
Published on Jan 17, 2025 in Cornerstone Blog
Dr. Landry shares her path to a career in research and academia in this Bridge to Faculty Q&A.
Published on Jan 15, 2025 in Cornerstone Blog
Researchers are creating a platform to help fast-track personalized gene-editing therapies for patients with urea cycle disorders.
Published on Nov 26, 2024 in Cornerstone Blog
Donna McDonald-McGinn, Director of the 22q and You Center, received a Dedication to Service award for her lifelong 22q11.2 deletion syndrome work.
Published on Nov 22, 2024 in Cornerstone Blog
Congratulations to physician scientist Dr. Yael Mosse, who received a Penn Medicine Award of Excellence for her contributions to pediatric oncology, and more.
Published on Sep 27, 2024 in Cornerstone Blog
Symposium highlights AAV gene therapy best practices for children, CHOP researchers develop novel nanopore platform, and more In the News
Published on Jul 23, 2024 in Cornerstone Blog
16-year-old Balin is an active advocate for research and treatment of fibro-adipose vascular anomaly.
Published on Jun 3, 2024 in Cornerstone Blog
The CHOP-Penn Autism Research Symposium explored opportunities for breakthroughs in the understanding and treatment of autism spectrum disorder.
Published on May 22, 2024 in Cornerstone Blog
Meet the Award for Excellence in Mentoring Research Trainee recipients, honored for their exceptional support of up-and-coming scientists.
Published on May 21, 2024 in Cornerstone Blog
CHOP Research celebrated its clinical research staff and their unique contributions at the 11th annual CRC RE@CH Awards on May 7.
Published on Apr 12, 2024 in Cornerstone Blog
This week, AACR names CHOP physician-scientists as grant recipients, and CIRP researchers publish new findings on driving and mood disorders.
Published on Jan 23, 2024 in Cornerstone Blog
This milestone represents an important step in treatment options for patients with hereditary hearing loss caused by genetic mutations.
Published on Nov 28, 2023 in Press Releases
All three genes had variants affecting splicing and resulted in symptoms like developmental delays, intellectual disability, hypotonia, seizures and autism.
Published on Jul 27, 2023 in Cornerstone Blog
After winning the 2022 Philadelphia Marathon, Amber Zimmerman, PhD, a postdoctoral researcher in the Division of Human Genetics, has her sights set on gold.
Published on Jul 5, 2023 in Cornerstone Blog
A new deep sequencing method helps researchers identify and treat previously undetectable genetic mutations related to vascular anomalies.
Published on May 18, 2023 in Cornerstone Blog
Scientists from Children’s Hospital of Philadelphia attend the American Society of Cell & Gene Therapy Annual Meeting to share their expertise through posters, panel discussions, and workshops.
Published on May 12, 2023 in Cornerstone Blog
Learn about a novel disorder caused by rare genetic variants, the importance of global neonatal outcomes, and more, in this week’s edition of In the News.
Published on Apr 26, 2023 in Press Releases
The disorder was identified in 21 patients with neurodevelopmental and craniofacial symptoms; causal gene may be a valuable therapeutic target.
Published on Nov 25, 2022 in Cornerstone Blog
The work of Children’s Hospital of Philadelphia researchers leads to novel findings and recognitions.
Published on Jun 10, 2022 in Cornerstone Blog
This week’s news roundup features discoveries related to COVID-19’s effect on adolescents, autism screening, telemedicine, and more.
Published on May 25, 2022 in Cornerstone Blog
Elizabeth Bhoj, MD, PhD, and David Hill, MD, PhD, are recipients of a 2021 Individual Biomedical Research Award from The Hartwell Foundation.
Published on Apr 1, 2022 in Cornerstone Blog
Learn about earn about a regional research collaboration, prestigious awards, and listen to a special podcast series.
Published on Jan 7, 2022 in Cornerstone Blog
This week’s In the News highlights studies about autism and driving, WAGR Syndrome, cleft palate and lip, and invasive candidiasis.
Published on Dec 20, 2021 in Press Releases
New research has identified several new clinical considerations and provides guidance for proper diagnosis and management of very rare disease.
Published on Dec 20, 2021 in Press Releases
Researchers have unlocked patterns to improve the diagnosis of the most common epigenetic childhood cancer disorder
Published on Nov 30, 2021 in Cornerstone Blog
The Emerging Innovators in Collaborative Research Program highlights non-faculty researchers.
Published on Nov 12, 2021 in Cornerstone Blog
This week’s In the News highlights COVID-19 forecasts, a new open-access resource, Kidney Week research, and research awards.
Published on Sep 22, 2021 in Cornerstone Blog
Marni Falk, MD, and Adam Resnick, PhD, to lead the Mitochondria and Cancer Connections (MC²) Research Program, a new CHOP research initiative.
Published on Sep 7, 2021 in Cornerstone Blog
Scientists identified a new genetic variant linked to congenital disorders of glycosylation.
Published on May 14, 2021 in Cornerstone Blog
This week’s research news features Ran Barzilay, PhD, and the results of the latest COVID-19 Resilience Project from the Lifespan Brain Institute.
Published on Apr 2, 2021 in Cornerstone Blog
This week’s research news features Kathrin Bernt, MD, and Richard Aplenc, MD, PhD, MSCE, recipients of Children’s Cancer Research Fund Awards.
Published on Mar 2, 2021 in Press Releases
Study is first to demonstrate how specific combination therapy may be beneficial to patients with mitochondrial respiratory chain disorders.
Published on Jan 8, 2021 in Cornerstone Blog
This week’s research news features CHOP’s participation in a study that found outcome disparities by race/ethnicity in children with severe sepsis.
Published on Dec 18, 2020 in Cornerstone Blog
This week’s In the News features firearms research, stillbirths during COVID, donations to the Friedreich’s Ataxia Center of Excellence, and postdocs highlighted for diversity.
Published on Dec 17, 2020 in Press Releases
CHOP researchers developed new cell models of Beckwith-Wiedemann syndrome to help study the disease.
Published on Nov 20, 2020 in Cornerstone Blog
This week in the news: New awards for our scientists and findings for antibiotic stewardship, gene therapy, and 22q11.2 deletion syndrome.
Published on Aug 19, 2020 in Cornerstone Blog
Researchers will study the mechanisms behind novel pediatric neurodegenerative disorders and assess their role in adult-onset conditions.
Published on Jul 29, 2020 in Cornerstone Blog
CHOP Research Institute honored clinical research coordinators’ talent with the CRC RE@CH Awards.
Published on Jul 27, 2020 in Cornerstone Blog
Center for Applied Genomics receives NIH funding to study the risk of disease in African Americans by combining genomic and environmental factors.
Published on Jun 19, 2020 in Cornerstone Blog
Study shows deep decline in number of pediatric patients visiting the emergency department for asthma treatment during first month of COVID-19 pandemic. This and more In the News.
Published on Apr 27, 2020 in Cornerstone Blog
A protein defect affects a process called glycosylation, and results in developmental delay and intellectual disability.
Published on Apr 8, 2020 in Press Releases
Researchers at CHOP and University of Pennsylvania developed an online tool to refine results from RNA sequencing obtained from tissues.
Published on Feb 26, 2020 in Cornerstone Blog
Researchers’ report reveals RIMGC’s successful, centralized approach to genomic testing, treatment, and management.
Published on Jan 30, 2020 in Announcements
The Symposium on Advances in Genomics, Epidemiology and Statistics will be on June 26, 2020 at the Smilow Center for Translational Research of the Perelman School of Medicine at the University of Pennsylvania.
Published on Jan 23, 2020 in Cornerstone Blog
The Excellence in Mentoring Award recognizes faculty who guide the training and professional development of postdocs and research fellows.
Published on Nov 19, 2019 in Cornerstone Blog
Using eMERGE Network data, researchers identified genome-wide significant loci that might be biomarkers for risk of cardiovascular disease.
Published on Nov 1, 2019 in Cornerstone Blog
In this week’s recap, a clinic gives hope to kids with ARFID, a grant expands GRIN, and a study aims to improve asthma medication adherence.
Published on Apr 3, 2019 in Cornerstone Blog
Marcella Devoto, PhD; Judith Kelsen, MD; and colleagues are using technologies like whole exome sequencing to uncover the genetic basis of very early onset inflammatory bowel disease.
Published on Oct 19, 2018 in Cornerstone Blog
Scientists made strides in our approach to genetic tests, prenatal gene editing, type 1.5 diabetes, and more.
Published on Oct 17, 2018 in Press Releases
CHOP Team: Findings May Assist More Accurate Diagnosis of Latent Autoimmune Diabetes in Adults
Published on Jun 18, 2018 in Cornerstone Blog
Drs. Jorge Henao-Mejia, Sarah Henrickson, and Elizabeth Bhoj received highly competitive awards for their game-changing research.
Published on Jun 13, 2018 in Cornerstone Blog
Dr. Elizabeth Bhoj is committed to helping children with rare disorders reach a diagnosis.
Published on Jun 7, 2018 in Cornerstone Blog
SAGES 2018 shared researchers' new approaches to sifting through the vast data produced by next-gen sequencing and other omics to find useful signals.
Published on May 4, 2018 in Cornerstone Blog
Check out a preview of some of the novel research our clinical and scientific experts are presenting at the Pediatric Academic Societies Meeting.
Published on Mar 15, 2018 in Cornerstone Blog
Meet four women in science who are driving discovery at Children's Hospital of Philadelphia Research Institute.
Published on Dec 4, 2017 in Press Releases
Can Ficicioglu, MD, PhD, a physician-scientist who is an expert in genetic disorders called inborn errors of metabolism, was appointed by the Pennsylvania Department of Health to a statewide Rare Diseases Advisory Council.
Published on May 30, 2017 in Cornerstone Blog
More mothers are breastfeeding than ever before. However, getting breastfeeding going can be difficult. Babies with inherited metabolic disorders, such as medium-chain acyl-CoA dehydrogenase deficiency (let's just call it MCAD) can be especially vulnerable to low blood…
Published on Mar 27, 2017 in Press Releases
Early Growth Failure Is Treatable in Mulchandani-Bhoj-Conlin Syndrome