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 6, 2020November 6, 2020

Case Report Describes Man With Two Distinct Porphyria-causing Mutations

News

An Argentinian man with two different porphyria-causing mutations was described in a new case report. The unusual findings highlight the importance of thorough clinical and molecular analyses in such ... 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 23, 2020October 23, 2020

APF Pet Calendar Contest Underway to Support Expert Porphyria Care

News

Voting is underway for the 2021 Pet Calendar Contest organized by the American Porphyria Foundation (APF). Through Oct. 30, people can vote for their favorite pets, with each vote ... 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

April 17, 2020April 17, 2020

Vision Loss Can Indicate Acute Porphyria in Children, Study Suggests

News

Vision loss in both eyes can be a sign of acute porphyria in children when associated with unexplained abdominal pain, a case report suggests. Proper treatment can also successfully ... Read more

April 3, 2020April 3, 2020

Supply of Acute Hepatic Porphyria Therapy Givlaari Unlikely Affected by Pandemic

News

Alnylam Pharmaceuticals is not expecting the production and supply of Givlaari (givosiran), a treatment for acute hepatic porphyria (AHP), to be affected by the COVID-19 pandemic, the company said. Besides Givlaari, Alnylam ... Read more

March 6, 2020March 6, 2020

Givlaari Approved in EU for Patients With Acute Hepatic Porphyria

News

The European Commission has approved Givlaari (givosiran) to treat acute hepatic porphyria in patients, 12 and older, in the European Union. This follows Givlaari’s approval for the same indication ... Read more

January 24, 2020January 24, 2020

Regular Blood Removal Could Be Effective Strategy to Manage CEP, Case Report Suggests

News

Regular removal of blood, through a procedure called phlebotomy, reduced symptoms and porphyrin levels in a person with congenital erythropoietic porphyria (CEP), likely by reducing iron levels in the ... Read more

September 20, 2019September 20, 2019

TB Antibiotic Shows Promise in Mice with Erythropoietic Protoporphyria, but Researchers say More Human Studies are Needed

News

Isoniazid, an antibiotic to treat tuberculosis, produces promising results in mice with erythropoietic protoporphyria (EPP), but the standard dose is not high enough to have an effect in humans, ... Read more

August 22, 2019August 22, 2019

Alnylam Partners with Ironwood to Make Doctors More Aware of Givosiran’s Potential

News

Alnylam Pharmaceuticals and Ironwood Pharmaceuticals are joining forces to better inform healthcare professionals about givosiran, Alnylam’s potential therapeutic for acute hepatic porphyria (AHP). Givosiran (also known as ALN-AS1) is an RNA-based ... Read more