Posts by: Marisa Wexler

Marisa Wexler

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.

February 3, 2021February 3, 2021

Case Study Stresses Importance of Early Diagnosis, Awareness

News

The case of a woman diagnosed with X-linked hypophosphatemia (XLH) relatively late in life — after the condition had already taken a substantial toll on her physical health and quality ... Read more

December 2, 2020December 2, 2020

Parathyroid Status Affects Kidney Phosphate Reabsorption, Study Indicates

News

Abnormal activity of the parathyroid glands can change the extent to which phosphate is reabsorbed by the kidneys in people with X-linked hypophosphatemia (XLH), a new study indicates. The study, ... Read more

November 25, 2020November 25, 2020

New Genetic Sequencing Panel Could Help Diagnose XLH, Related Conditions

News

A new genetic sequencing panel could be used to help diagnose X-linked hypophosphatemia (XLH) and related conditions. The panel was described in the European Journal of Endocrinology, in the study “Validation ... Read more

November 18, 2020November 18, 2020

Study: Recommended Crysvita Starting Dose Too Low to Manage XLH in Children

News

The recommended starting dose of Crysvita (burosumab) is too low to effectively manage X-linked hypophosphatemia (XLH) in children with the rare inherited disorder, a Swedish study indicates. That dose, of ... Read more

November 11, 2020November 11, 2020

XLH Prevalence in Paraná, Brazil, Lower Than Elsewhere in World, Study Finds

News

The prevalence of X-linked hypophosphatemia (XLH) in the Brazilian state of Paraná is lower than elsewhere in the world, at about five cases per million inhabitants, according to a new ... Read more

November 4, 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 organizations ... Read more

October 20, 2020October 20, 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 series ... Read more

October 14, 2020October 14, 2020

Diagnostic Process for Hypophosphatemic Rickets Lengthy, Report Says

News

People with hypophosphatemic rickets (HR) may experience yearslong delays in getting a confirmed diagnosis of their condition, undergoing a multitude of clinical visits and evaluations, according to a report detailing ... Read more

September 23, 2020September 23, 2020

Newly Identified Mutation Linked to XLH in Young Girl

News

A newly identified mutation is the probable cause of X-linked hypophosphatemia (XLH) in a young girl, according to recent case report. The study, “X-linked hypophosphatemic rickets: a new mutation,” was ... Read more

September 16, 2020September 16, 2020

Real-world Data Support Effectiveness of Crysvita in Youngsters With XLH

News

One-year treatment with Crysvita (burosumab) reduced bone damage and increased phosphate levels in children and adolescents with X-linked hypophosphatemia (XLH), a study showed. The study, “Real-life clinical study: 1-year of ... Read more