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The case of an infant with type 2 Gaucher disease who clearly inherited one disease-causing mutation from his father but whose mother did not show evidence of the second defective gene was detailed by a research team at the National Human Genome Research Institute (NHGRI). Genetic mutations associated with…

Children’s National Health System no longer treats just kids. Its Rare Disease Institute, launched in April 2017, has partnered with the National Organization for Rare Disorders (NORD) to become the first of many U.S. “centers of excellence” to look after patients with rare diseases, regardless of age. The effort…

A major challenge of diagnosing Gaucher disease is that its neurological manifestations can appear very early in life or much later, according to a National Institutes of Health review of the rare condition. Also making a diagnosis difficult is the broad range of symptoms the hereditary disorder can display. In some cases its…

Glucosylsphingosine (lyso-Gb1), a recently identified biomarker for Gaucher disease (GD), was shown to contribute to the development or peripheral symptoms in a mouse study, potentially validating its use as a diagnostic tool, according to new research. The study, “Glucosylsphingosine Causes Hematological and Visceral Changes in Mice—Evidence for a Pathophysiological…

More therapies are now available for the 30 million or so people with rare diseases in the U.S. than ever before, and millions of dollars are being invested in clinical studies that will test new ways of evaluating — and advancing — potential treatments, including the use of natural history…

Using dried blood samples for measuring the levels of Gaucher disease biomarker glucosylsphingosine is now possible with a newly developed method by a team of researchers at Cincinnati Children’s Hospital Medical Center. The study, “A convenient approach to facilitate monitoring Gaucher disease progression and therapeutic response,” appeared in…

As Congress begins debate this week to overhaul the U.S. tax code, lawmakers should leave the Orphan Drug Act (ODA) — and the tax incentives it offers pharmaceutical companies to develop therapies for rare diseases — off the table. That’s the message being pushed by the National Organization for…

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 the increased risk of Parkinson’s disease (PD) before the screening. Most of those surveyed replied yes, they think people should be…

Genetic mutations causing neuropathic Gaucher disease (GD) aggravate cognitive dysfunction in Parkinson’s disease (PD), new research shows. The study “Specifically neuropathic Gaucher’s mutations accelerate cognitive decline in Parkinson’s” was published in the journal Annals of Neurology. The pace of cognitive worsening in Parkinson’s varies significantly between patients. In…

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 Center at the Hebrew University-Hadassah Medical School. Unlike other markers of treatment response, Lyso-Gb1 reflects changes in disease…