Hermansky Pudlak Syndrome News and Research

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New strategy for editing and repairing genetic mutation associated with microduplications

Scientists at UMass Medical School have developed a strategy for editing and repairing a particular type of genetic mutation associated with microduplications using CRISPR/Cas9 and a seldom-used DNA repair pathway.

11 Apr 2019

NYU Langone Health surgeons successfully perform first lung transplant procedure

Shortly after receiving final regulatory approval to launch a new lung transplant program, NYU Langone Health surgeons successfully performed the institution's first procedure, giving two new lungs-;and a new lease on life-;to a Brooklyn woman with a complicated form of pulmonary fibrosis.

2 Apr 2018

Loyola Medicine participates in major study of rare lung disease that affects Puerto Ricans

Loyola Medicine is enrolling patients in the first major study of a rare, debilitating lung disease that disproportionately affects people from Puerto Rico.

7 Jul 2017

Hermansky-Pudlak syndrome can cause debilitating lung disease in Puerto Ricans

A hereditary condition called Hermansky-Pudlak syndrome (HPS) can cause bleeding problems, low vision, albinism and, in some patients, a debilitating lung disease.

21 Sep 2015

ATS Foundation, American Lung Association to co-fund $80,000 grant to support HPS research

The American Thoracic Society Foundation and the American Lung Association announced today that they are co-funding an $80,000 grant that will support important research into the mechanisms underlying Hermansky-Pudlak syndrome, a rare inherited disease which affects a number of organs including the lungs.

19 Dec 2013

CHOP researchers advance stem cell studies in childhood leukemia, Diamond Blackfan anemia

First produced only in the past decade, human induced pluripotent stem cells are capable of developing into many or even all human cell types. In new research, scientists reprogrammed skin cells from patients with rare blood disorders into iPSCs, highlighting the great promise of these cells in advancing understanding of those challenging diseases-and eventually in treating them.

31 Jul 2013

Hermansky Pudlak Syndrome News and Research

New strategy for editing and repairing genetic mutation associated with microduplications

NYU Langone Health surgeons successfully perform first lung transplant procedure

Loyola Medicine participates in major study of rare lung disease that affects Puerto Ricans

Hermansky-Pudlak syndrome can cause debilitating lung disease in Puerto Ricans

ATS Foundation, American Lung Association to co-fund $80,000 grant to support HPS research

CHOP researchers advance stem cell studies in childhood leukemia, Diamond Blackfan anemia

Expanding research and clinical options for children with cancer

Examining how pain could play a direct protective role in the gut

From Puberty to Menopause: Clue’s CEO, Audrey Tsang on the Power of Femtech

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