Rare Diseases
Conference Coverage
Will TP53-mutated AML respond to immunotherapy?
NATIONAL HARBOR, MD. – Patients with TP53-mutated AML were shown to have increased immune infiltration, but it isn’t clear if they will respond...
Conference Coverage
Serum test sheds light on Merkel cell carcinoma
LAS VEGAS – The rare skin cancer is linked to a subclinical virus and a serum test can offer clinicians useful insight into tumor burden.
Conference Coverage
Cilofexor passes phase 2 for primary biliary cholangitis
BOSTON – The nonsteroidal farnesoid X receptor agonist can reduce serum levels of liver biomarkers in patients with...
Conference Coverage
Ataluren shows real-world benefit for nonsense mutation Duchenne muscular dystrophy
AUSTIN, TEX. – Side effects in children taking ataluren were primarily gastrointestinal upset, headache, and...
Conference Coverage
Better overall survival with nivolumab vs. chemo for advanced ESCC
BARCELONA –Nivolumab was associated with improved overall survival and a favorable safety profile vs. chemotherapy...
Case Reports
Adiposis Dolorosa Pain Management
While current approaches to treatment focus on surgery, opiates, and other medications, health care providers may also consider ketamine infusion...
Conference Coverage
Experts address barriers to genetic screening
WASHINGTON – Panel explores clinical implications of removing barriers to genetic testing for newborns and carriers.
News
Adverse cytogenetics trump molecular risk in NPM1-mutated AML
The findings have implications for postremission treatment decisions, including whether NPM1-mutated patients should receive allogeneic...
News
FDA approves afamelanotide for treatment of rare condition with light-induced pain
This is the first treatment approved to help patients with erythropoietic protoporphyria increase their exposure to light.
Conference Coverage
C-Path and NORD team up to speed development of treatments for rare disorders
ROCKVILLE - A new data analytics platform aims to accelerate therapies from bench to bedside for rare diseases.