NeurofibromatosisNeurofibromatosis Type 1Neurofibromatosis Type 2

Study for Vision Loss from NF1 Optic Pathway Glioma Funded By Gilbert Family Foundation

Alyssa Stevens - December 1, 2021

Niemann-Pick DiseaseNiemann-Pick Type C Disease

Remembering Rachael Kaflowitz: One Mother’s Fight to Support NPC Research and Awareness (Pt. 3)

Duchenne Muscular Dystrophy

RGX-202 for DMD Earns Orphan Drug Designation

Alport syndrome

A Five Year $2.25M Grant Has Been Awarded for the Study of Alport Syndrome

PODCAST: WAIT, HOW DO YOU SPELL THAT?

PATIENT WORTHY SERIES

Rare Classroom: Williams Syndrome

Welcome to the Rare Classroom, a new series from Patient Worthy. Rare Classroom is designed for the curious reader who wants to get informed on

Rare Classroom: Acalvaria

Welcome to the Rare Classroom, a new series from Patient Worthy. Rare Classroom is designed for the curious reader who wants to get informed on

Science Simplified: What is Gene Therapy?

Want to learn about scientific topics without needing a PhD? Check out the Science Simplified blog from TESS Research Foundation! Dr. Tanya Brown, PhD, works

Study of the Week: The High Cost Burden of Rare Diseases

Welcome to Study of the Week from Patient Worthy. In this segment, we select a study we posted about from the previous week that we

Aplastic anemia

Girl with Aplastic Anemia Creates Inspirational Mural

When she was just nine years old, Maika Ting, from California, was diagnosed with aplastic anemia, a rare and serious blood disorder. Although her brother

Pancreatic Cancer

Talabostat Improves Immunotherapy for Pancreatic Cancer

Years ago, talabostat (BXCL701) failed during a Phase 3 clinical trial to evaluate the therapy for patients with pancreatic cancer. However, drug developer BioXcel Therapeutics

Neurofibromatosis

Mom Runs NY Marathon to Fundraise for Neurofibromatosis

I’ve certainly never been a runner — and neither was Diane Owens, at least for a while. The mother, who lives in Southbury, CT, admits

Hereditary ATTR Amyloidosis

‘Donegal Amy’ Film Shines Light on Hereditary Amyloidosis

According to a recent article from Donegal Daily, patients with hereditary amyloidosis in Donegal, Ireland created a film on the condition that has been plaguing

COVID-19

Study: COVID-19 Vaccine and Renal Cell Carcinoma

The COVID-19 vaccine was approved quickly by the FDA in an effort to fight the raging pandemic. Due to the rapid pace of these trials,

Malaria

IgA Antibodies Found in Malaria Patients, Study Shares

In the past, many doctors and researchers have considered malaria, a parasitic mosquito-borne illness, to be an infection of the blood and liver. As malaria can

COVID-19

Disabled Journalists Have to Fight to Get into Newsrooms

In a recent article by Bailey Martens, she describes the struggles she and others have faced being disabled as journalists and brings light to the

Neuroblastoma

11/13: Indiana Blood Drive Supports Girl with Opsoclonus-Myoclonus Syndrome

3-year-old Ruby Ann Grimes is bubbly, happy, and loving. But each and every day, Ruby faces an ongoing battle: Opsoclonus-Myoclonus syndrome (OMS). Last January (2020),

Osteosarcoma

OST-HER2 Earns Rare Pediatric Disease Designation for Osteosarcoma

According to a November 3, 2021 news release from biopharmaceutical company OS Therapies, the company’s therapeutic candidate OST-HER2 (OST31-164 / Listeria monocytogenes) received Rare Pediatric

Chronic Lymphocytic Leukemia

Study Shows Novel BTK Degrader Has Meaningful Results for Patients with Chronic Lymphocytic Leukemia

According to a recent article, a study looking at an investigational BTK degrader proved to have important results in patients with chronic lymphocytic leukemia. Chronic