Posts by: Marisa Wexler MS

Marisa Wexler MS

Marisa holds an MS in Cellular and Molecular Pathology from the University of Pittsburgh, where she studied novel genetic drivers of ovarian cancer. She specializes in cancer biology, immunology, and genetics. Marisa began working with BioNews in 2018, and has written about science and health for SelfHacked and the Genetics Society of America. She also writes/composes musicals and coaches the University of Pittsburgh fencing club.

November 11, 2020November 11, 2020

Eye Movement Condition Nystagmus May Be Feature of Infantile Pompe, Report Shows

News

Nystagmus, a condition in which the eyes move rapidly and uncontrollably, may be a feature of infantile-onset Pompe disease, a new case report suggests. The report, “Nystagmus in Infantile ... Read more

November 5, 2020November 6, 2020

NORD Hosting ‘RareLaunch’ Workshops to Help Start Rare Disease Non-profits

News, syndicated

The National Organization for Rare Disorders (NORD)’s RareLaunch training program will host two days of free virtual workshops in December, with the aim of empowering leaders to start non-profit ... Read more

October 19, 2020October 19, 2020

Telehealth ‘Helpful’ Alternative to In-person Care, Rare Disease Patients Say

News, syndicated

A majority of rare disease patients using telehealth during the COVID-19 pandemic thought the experience positive, and many would like the option of continuing its use in future appointments, a ... Read more

June 24, 2020June 24, 2020

Glc4 Is Potential Biomarker of Pompe Disease, Study Suggests

News

Measuring the urinary levels of a particular sugar molecule called tetraglucose (Glc4) could be useful for diagnosing Pompe disease, a study from France suggests. The study, “Urine glucose tetrasaccharide: ... Read more

May 14, 2020May 14, 2020

Urinary Levels of Glc4 Abnormally High in Pompe Patients, Turkish Study Finds

News

Urinary levels of a proposed Pompe disease biomarker known as Glc4 are higher in patients with either infantile-onset or late-onset forms of this disorder compared to healthy individuals in ... Read more

March 12, 2020March 12, 2020

Better Newborn Screening Needed for Pompe, Could Improve Prognosis, Report Says

News

The discovery of a new combination of mutations causing infantile-onset Pompe disease, described in a case report, highlights the importance of screening for early detection of the rare genetic ... Read more

March 5, 2020March 5, 2020

Albuterol With ERT Improves Lung, Motor Function in LOPD Patients, Phase 1/2 Trial Shows

News

When used in combination with enzyme replacement therapy, albuterol improves lung and motor function in patients with late-onset Pompe disease (LOPD), a Phase 1/2 trial showed. Trial findings were ... Read more

November 21, 2019November 21, 2019

Case Report Demonstrates Presence of Polyneuropathy In LOPD

News

People with late-onset Pompe disease (LOPD) can develop damage to the nerves that run throughout their body, a recent case report about four patients shows. Such nerve damage in ... Read more

November 14, 2019November 14, 2019

Study Finds Association Between Whole-body MRI Measurements and Muscle Function Scores

News

Muscle strength and function measurements in people with late-onset Pompe disease (LOPD) correlate with whole-body magnetic resonance imaging (WBMRI) results, a new study suggests. The study, “Whole‐body MRI in ... Read more

November 7, 2019November 7, 2019

Molecular ‘Tag’ Improves Efficacy of Gene Therapy for Pompe Disease in Mice, Study Shows

News

A molecular “tag” to improve distribution of the acid-alpha glucosidase (GAA) protein within cells enhanced the efficacy of gene therapy in a mouse model of Pompe disease, a recent ... Read more