Please ensure Javascript is enabled for purposes of website accessibility Salisbury introduces bill to mandate newborn screening for Gaucher disease

Salisbury introduces bill to mandate newborn screening for Gaucher disease

Would ensure timely detection of genetic disease with multiple health impacts

Rep. Abigail Salisbury    June 24, 2025 | 4:46 PM

HARRISBURG, June 24 – State Rep. Abigail Salisbury today introduced legislation that would require all Pennsylvania newborns to be tested for Gaucher disease – an inherited genetic disorder with far-reaching health consequences.

Salisbury, D-Allegheny, said H.B. 1652 would ensure diagnosis at the earliest possible time, when treatment can help alleviate some symptoms of the disease.

“Currently, there is no cure for Gaucher disease, which causes fatty substances to accumulate and enlarge the liver and spleen,” Salisbury said. “People born with the disorder can develop a litany of problems, from organ, blood and bone disorders to gynecological and obstetric problems, to even some cancers.

“The good news is that timely detection and treatment can alleviate some of the symptoms and help people achieve better outcomes. My bill would ensure that Gaucher testing is included among the diseases for which Pennsylvania newborns are screened. It’s a simple step that can make a huge difference in the life of someone born with this disease.”

Gaucher disease is a genetic condition in which a person is missing an enzyme that breaks down lipids – fatty compounds in the body that serve various important functions. This can result in symptoms including a large liver and spleen, low number of red blood cells, easy bruising, bone pain, bone fractures and lung disease. In rare cases, the disease can affect the brain, causing unusual eye movements, swallowing difficulties and seizures.

Several other states already test for Gaucher disease.