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 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 21, 2020October 21, 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

August 3, 2020August 3, 2020

Children With Gaucher May Need Long-term ERT to Reach Desired Immune Responses, Study Says

News

Children with Gaucher disease who are on enzyme-replacement therapy (ERT) continue to have abnormal levels of immune cells, despite partial improvements, a study suggests. Therefore, these patients may need ... Read more

July 20, 2020July 20, 2020

25% of Patients in Spain on ERT Report Missed Doses Due to COVID-19

News

In Spain, a quarter of Gaucher disease patients being given enzyme replacement therapy (ERT) infusions at hospitals experienced dose interruptions due to the COVID-19 pandemic, a study reports. Greater attention needs to ... Read more

July 13, 2020July 13, 2020

1st Patient Dosed in Trial of AVR-RD-02, Gene Therapy for Gaucher Type 1

News

A first patient has been treated in a Phase 1/2 trial of AVR-RD-02, Avrobio‘s investigational gene therapy for Gaucher disease type 1, the company announced. “The first patient dosed is an important ... Read more

January 9, 2020January 10, 2020

Novel Genetic Profile Described in Sisters with Gaucher Type 1 Disease

News

A case report about two sisters in Brazil with Gaucher type 1 disease (GD1) and severe bone disease represents a new genetic profile, researchers say. Although the uncommon genetic ... Read more

November 21, 2019November 21, 2019

Myelodysplastic Syndrome Rare, But May Be Under-diagnosed in Gaucher Type 1 Patients, Study Suggests

News

Myelodysplastic syndrome (MDS) is rare in people with Gaucher disease type 1 (GD1) but because it is difficult to detect it may lead to under-diagnosis in this patient population, a ... Read more

October 7, 2019

New Fly Model of Gaucher Disease May Improve Knowledge of Disease Mechanisms, Researchers Say

News

A new fly model of Gaucher disease may more fully summarize and present the molecular complexities of the disease in humans than other animal models do, researchers say. This ... Read more

October 3, 2019

Pilot Study Demonstrates Feasibility of Gaucher Monitoring with Cell Phones

News

Mobile phone-based monitoring may allow for better measurement of how Gaucher disease affects the lives of those who have it, a new pilot study reports. The investigators suggest that ... Read more

September 12, 2019

‘Simple’ Algorithm Seen to Help Diagnose Rare Diseases Like Gaucher Type 3

News

A new algorithm that examines neurological and oculomotor signs may make it much easier to diagnose certain “often overlooked” rare neurological conditions, including Gaucher disease type 3 (GD3), the research ... Read more