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Advocacy Awareness Policy Research

Rare Disease Advocacy – Behind the Scenes

I ran across this article a few minutes ago. It’s a great insight into the challenges those of us working in rare disease advocacy working encounter.

Every person and agency mentioned in this article is someone we at the MLD Foundation regularly come into contact with as we work on behalf of those with MLD.
http://cen.acs.org/content/dam/cen/91/19/09119-cover.pdf

Categories
Awareness Research

Intracerebral Gene Therapy Phase I/II Clinical Trial for MLD

We are pleased to share that a Phase I/II Intracerebral Gene Therapy clinical trial for MLD is now recruiting late infantile MLD patients. Dr. Patrick Aubourg and Dr. Caroline Sevin are the co-Principal Investigators.

We have posted complete details of the trial, including inclusion criteria, here.

This trial is based on many years of work in the lab, and on some parallel work with ALD that showed good results.

Categories
Advocacy Awareness Education General Newborn Screening Policy Research

RARE Patient Advocacy Summit – 2012

I was pleased to be the organizer and host for the RARE Project | Global Genes RARE Patient Advocacy Summit on September 29th, 2012. The day-long event with 140 in attendance and over 120 viewing via a live webcast.  Videos of the event are available below for viewing.

Categories
Awareness Education General Research

List of Rare Diseases

This list was prepared using data supplied by the NIH’s Office of Rare Disease Research in late 2011. Please note that your medical providers and insurance payors probably have their own lists of diseases they think are rare – this list is for quick reference only. 

Quick Jump: A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Rare Diseases and Disorders Starting With “A”

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  • Aagenaes syndrome
  • Aarskog syndrome
  • Aase Smith syndrome
  • ABCD syndrome
  • Abderhalden Kaufmann Lignac syndrome
  • Abdominal aortic aneurysm
  • Abdominal chemodectomas with cutaneous angiolipomas
  • Abdominal cystic lymphangioma