Posts by: Magdalena Kegel

Magdalena Kegel

Magdalena is a writer with a passion for bridging the gap between the people performing research, and those who want or need to understand it. She writes about medical science and drug discovery. She holds an MS in Pharmaceutical Bioscience and a PhD — spanning the fields of psychiatry, immunology, and neuropharmacology — from Karolinska Institutet in Sweden.

January 25, 2018

Ambroxol May Have Multiple Effects on Neurons in Gaucher, Parkinson’s Diseases

Ambroxol — a chest congestion and cough medicine that’s being investigated for the treatment of Gaucher disease — has several molecular mechanisms in addition to acting as an enhancer of the enzyme ... Read more

December 19, 2017

Coexisting Gaucher and Thalassemia May Complicate Diagnosis, Case Study Suggests

Thalassemia — a condition caused by a lack of hemoglobin in red blood cells — might be present in patients with Gaucher disease, making a diagnosis difficult, a case study suggests. ... Read more

October 12, 2017October 12, 2017

Parkinson’s Disease Risk Should Be Discussed Before Gaucher Genetic Testing, Patients Say

A recent survey of people who were tested to see if they carry Gaucher disease-causing mutations in the GBA gene asked if they believe patients should also be informed about ... Read more

September 26, 2017

Researchers Suggest Lyso-Gb1 as Gaucher Treatment Response Marker

Lyso-Gb1 (glucosylsphingosine) may be a sensitive marker of disease burden and treatment response in patients with Gaucher disease type 1, argue researchers from the biotechnology company Shire and Zedek Medical ... Read more

September 19, 2017

Gaucher Disease Guidance Could Help Non-specialists Diagnosis It Better, Study Reports

Doctors who are not Gaucher disease experts should have straightforward and easy-to-follow diagnosis guidance so patients can be treated earlier, according to a study reporting that it can take ... Read more

July 27, 2017July 27, 2017

Poor Bone Health in Gaucher Disease May Be Unrelated to the Condition Itself, Study Reports

Poor bone health in people with Gaucher disease is likely driven by processes independent of the condition, researchers at Argentina’s National University of La Plata report. They identified the prime suspects ... Read more

July 25, 2017

Long-term Follow-up Needed to Assess Newborn Screening for Lysomal Storage Disorders

The benefits of newborn screening for lysosomal storage disorders such as Gaucher disease were not directly apparent 15 months after Illinois launched statewide screening. Long-term follow-up is needed to ... Read more

July 11, 2017July 11, 2017

Recommendations on Genetic Counseling for Gaucher-Parkinson’s Link Are Needed, Researchers Argue

Although people with Gaucher disease have a higher risk of developing Parkinson’s disease later in life, the link between the two diseases is rarely addressed in a genetic counseling setting. ... Read more

July 6, 2017

FDA, EMA Propose Exploring Innovative Solutions for Gaucher Disease Drug Development

Regulatory agencies in the U.S. and Europe have joined forces to develop a proposal with the aim to spur innovative approaches in the development of new Gaucher disease treatments. The ... Read more

June 13, 2017June 13, 2017

Introduction of Enzyme Replacement Therapy with Cerezyme Has Significantly Decreased Severe GD1 Complications, Study Shows

The presence of severe complications of Gaucher disease type 1 (GD1) at the time a patient starts treatment has steadily dropped since the introduction of enzyme replacement therapy with ... Read more

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