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Results for Hermansky-Pudlak Syndrome

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Lisa R. Young, MD
Lisa R. Young

Dr. Young’s translational research program aims to understand mechanisms underlying interstitial and rare lung diseases and develop new strategies to treat these disorders. Her laboratory focuses on the roles of epithelial cells in alveolar homeostasis, injury, and repair.

E-mail:
youngL5 [at] chop.edu
Michael S. Marks, PhD
Michael S. Marks

Dr. Marks investigates the molecular mechanisms underlying the formation of cell type-specific lysosome-related organelles; the assembly, delivery and function of their contents; and how these processes are impacted by genetic diseases.

E-mail:
marksms [at] chop.edu

In the News: CureARS, Pigment Production, TBCK

Published on
Oct 14, 2022
in Cornerstone Blog
In the News
Read the latest findings and new grants from Children’s Hospital of Philadelphia researchers.

Q&A With New AAAS Fellow Michael Marks: Curiosity, Collaborators, and Good Questions

Published on
Feb 21, 2017
in Cornerstone Blog
Michael Marks, PhD
Cell biologist Michael Marks, PhD, studies strange, specific organelles that are only found in certain cell types in our bodies. By dissecting the ways these lysosome-related organelles are assembled, he has gained novel insights into how these mechanisms are thwarted in a rare genetic disease called Hermansky-Pudlak syndrome (HPS). The American Association for the Advancement of Science (AAAS) honored his

CHOP's Foerderer Awards Support Novel Biomedical Research Studies

Published on
Mar 29, 2016
in Cornerstone Blog
Christoph Seiler, PhD, received a Foerderer Fund for Excellence award at The Children’s Hospital of Philadelphia in 2015 to study this mechanism. German-born Dr. Seiler pointed out that “Foerderer,” in German, means supporter or sponsor. Its name is therefore apt, because the internal award program spurs research projects that need a bit of support to generate pilot data that can later help those projects stand out in the competitive awarding of external funds.

Platelet Granule Formation Gives Insight Into Rare Disease

Published on
Jul 23, 2014
in Cornerstone Blog
Cell biologists at The Children’s Hospital of Philadelphia Research Institute speculate that platelet granules hold the key to unlocking the mechanisms behind Hermansky-Pudlak syndrome.

Marks Laboratory

Marks Lab

The Marks Lab aims to dissect the molecular mechanisms underlying the formation of cell type-specific lysosome-related organelles and the assembly, delivery, and function of their contents, and to understand how these processes are impacted by genetic diseases.

CHOP Faculty Luncheon - Session 4 Scheduled for January 21, 2020

Elaine H. Zackai, MD and Michael Marks, PhD

Elaine H. Zackai, MD, Professor of Pediatrics in Genetics, will be presenting “Where Have All the Fellows Gone? Progress Over a Span of 48 Years” and Michael Marks, PhD, Professor of Pathology and Laboratory Medicine, will be presenting "The Dark Side of Subcellular Organelle Biogenesis Enlightened by the Hermansky-Pudlak Syndromes".

Rare Lung Diseases Center

Rare Lung Diseases Center
Transforming how rare lung diseases are diagnosed and treated in children by expanding the use of genetic and pathologic testing, enabling the clinical team to provide a more accurate diagnosis and a personalized, specific care plan for each child.
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In this section

Filter By

  • Principal Investigator / Faculty (2)

Organizations

  • Center for Applied Genomics (1)
  • Department of Pathology and Laboratory Medicine (1)
  • Department of Pediatrics (1)
  • Division of Hematology (1)
  • Division of Neurology (1)
  • Mitochondrial Medicine (1)
  • Office of Academic Training and Outreach Programs (1)
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