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. 

Headshot of Corey McMillan, PhD
July 19, 2022

Corey McMillan, PhD, is an associate professor of neurology at the University of Pennsylvania and principal investigator of the Penn Bioinformatics in Neurodegenerative Disease (BiND) Lab. He is also a member of the Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium. His research focuses on multimodal and bioinformatic approaches to improve our understanding of the biological basis of neurodegenerative conditions. Here, he shares his start in rare disease research, exciting discoveries, and future goals.

Andrea and her daughter, Bianca, celebrating World CDG Awareness Day
July 07, 2022

Andrea Miller, JD, MHA, is the founder and president of CDG CARE (Community Alliance and Resource Exchange), a patient advocacy group that supports individuals and families affected by congenital disorders of glycosylation (CDG). CDG is a large group of rare, inherited disorders that affect a complex process in the body called glycosylation. Here, she shares her journey to rare disease advocacy, impactful work by CDG CARE, and collaboration with the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC).

Rare Diseases Clinical Research Network logo with text: Research Roundup, #RDCRN
July 06, 2022

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

The Franklin family at a playground, and Dee List wearing a graduation cap
June 30, 2022

Congenital disorders of glycosylation (CDG) are a large group of rare, inherited disorders that affect a complex process in the body called glycosylation. Most children who are diagnosed with CDG have neurological issues and symptoms, developmental problems, growth delays, and problems with organs not working like they should. PMM2-congenital disorder of glycosylation (PMM2-CDG) is the most common type of CDG. Here, we speak to two parents of children diagnosed with PMM2-CDG—Heather Franklin (mother of Michaela, age 13, and Nathaniel, age 11) and Bobbie List (mother of Danielle “Dee,” age 21)—about their journey as a caregiver and advocate for children with a rare disease.