Rare Research Report logo
September 07, 2022

Each month, we share summaries of recent Rare Diseases Clinical Research Network (RDCRN) grant-funded publications. Catch up on the latest RDCRN research. 

Headshot of Erica Barnes, MS, CCC-SLP
August 30, 2022

Erica Barnes, MS, CCC-SLP, is the co-founder of Chloe’s Fight Rare Disease Foundation (CFRDF), a patient advocacy group that supports research to find and implement effective cures and treatments for rare childhood genetic diseases. She also serves as a board member of Cure MLD, state ambassador of the Minnesota RareAction Network, and advocacy committee chair of the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN). Here, she shares her journey to rare disease advocacy, impactful work by CFRDF, and collaboration with GLIA-CTN.

Global Leukodystrophy Initiative Clinical Trials Network logo
August 23, 2022

The Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN) is a consortium of scientists, clinicians, industry stakeholders, and patient advocacy leaders working together to promote advances in the diagnosis and treatment of leukodystrophies—a group of rare, primarily inherited neurological disorders. Here, program manager Omar Sherbini, MPH, shares the history of the consortium, current research, and future plans.

Rare Research Report logo
August 15, 2022

Each month, we share summaries of recent Rare Diseases Clinical Research Network (RDCRN) grant-funded publications. Catch up on the latest RDCRN research. 

Inherited Neuropathy Consortium logo
August 09, 2022

The Inherited Neuropathy Consortium (INC) is a group of academic medical centers, patient advocacy organizations, and clinical research resources dedicated to conducting clinical research in Charcot-Marie-Tooth disease, a group of disorders that affect the peripheral nerves. Here, program manager Shawna Feely, MS, LGC, and principal investigator Michael Shy, MD, share the history of the consortium, current research, and future plans. 

Headshot of Kristin Anthony
August 05, 2022

Kristin Anthony is president and founder of the PTEN Hamartoma Tumor Syndrome Foundation, a patient advocacy group of the Developmental Synaptopathies Consortium (DSC) that aims to find treatments or a cure for PTEN hamartoma tumor syndrome (PHTS). She is also the new chair of the Rare Diseases Clinical Research Network (RDCRN)’s Coalition of Patient Advocacy Groups (CPAG). Here, she shares her start in rare disease advocacy, exciting work with the PTEN Foundation and DSC, and goals as the CPAG chair.

Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) logo
July 28, 2022

The Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium is a group of scientists, clinicians, patients, and advocates working together to advance therapeutic development for amyotrophic lateral sclerosis (ALS) and related neurodegenerative disorders. Here, CReATe leaders share the history of the consortium, current research, and future plans.