Cast: Bernadette Scarduzio
Bernadette Scarduzio was born with the most common inherited disease that no one has ever heard of: Charcot Marie Tooth (CMT) syndrome. CMT is the number one hereditary neuropathy in the world, affecting 1 in 2,500 people or nearly 2.6 million worldwide.
HNF’s CSO (Chief Scientific Officer), Sean Ekins wrote a blog about his work with Allison Moore and her two “fighter Mom” friends Lori Sames and Jill Wood. He named his blog: “Rare disease heroes – Extraordinary collaborators we should be listening too.” Sean helped my friends and I write a paper called: “Multifaceted roles of ultra rare and rare disease patients/parents in drug discovery.” YES, Allison Moore is going to be published! It will be in Drug Discovery Today, soon. The link to the reprint is below.
At HNF we have dedicated our lives to raising awareness about CMT, so we’d like to spend the month sharing what we’ve learned
We are delighted to announce that after volunteering for HNF for the past year Dr. Sean Ekins, Ph.D, D.Sc. will officially become our CSO responsible for overseeing the TRIAD program, directing our scientific advisory board, and communicating our research initiatives to the scientific community. In addition he serves as the Principal Investigator of the clinical Global Registry for Inherited Neuropathy (GRIN).
The clinical Global Registry for Inherited Neuropathy (GRIN) and the Rare Disease Clinical Research Network (RDCRN) contact registry are very different types of databases.
Forty-six schools, eight states, 6600 students. The third year of the Hereditary Neuropathy Foundation’s School Outreach Program was our best yet! From the authors’ home state of Rhode Island, to our current home in New York, and on out to Chicago, Philadelphia, Washington, DC and Dallas, we met our goal of reaching more students, teachers and parents than ever.
Read more about how a podiatrist can help diagnose CMT.
The Hereditary Neuropathy Foundation (HNF) and Hannah’s Hope Fund (HHF) are excited about their partnership to co-fund the Global Registry for Inherited Neuropathies
The Neuropathy Association and the Hereditary Neuropathy Foundation are pleased to announce that we will be co-hosting a Facebook Chat on July 24th that focuses on better understanding the diagnosis, care and treatment of hereditary neuropathies.
Older sister Erin, who also lives with Charcot-Marie-Tooth, pitched in along with mom, Monica Hughes. With a polished powerpoint show that included pictures and videos, plus doughnuts at the end, Miah’s classmates were engaged and ready to understand!
The biggest Team CMT Kids event of the year featured a group of youth triathletes going the distance to support those who live with Charcot-Marie-Tooth disease.
We are pleased to update our readers on the progress of the WVU-NIOSH study, “A Bi-Directional Translational Model of Exercise Training in the Treatment of Charcot-Marie-Tooth Disease”
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