Forgotten Diseases Research Foundation

Welcome to the home page for our study of CS, TTD, and A-T!

Background

We're trying to find ways to improve how CS and TTD are managed. To do this, we need to understand how medical events (even small ones) that happen early in a child's life affect him or her later. For example, does better nutrition affect growth? Do young children whose weight is good have fewer problems or milder problems when they're older? Do they live longer? Are there any common patterns between two or more diseases?

To find patterns, we need lots of data from blood tests, growth charts, scans, hearing exams, etc. We need to put data from lots of kids together then analyze it all to look for patterns. To do this, we need medical records. We're hoping that what we learn from this study will be meaningful for patients as soon as possible.

    Things we'll analyze
  •  Blood tests (blood sugar, iron, liver enzymes, red/white cells, etc.)
  •  Growth charts (height, weight, head circumference)
  •  Scan results (brain, abdominal, etc. scans)
  •  Overall development (motor skills, etc.)
  •  Results of hearing exams
  •  Results of eye exams
  •  Nutrition reports
  •  More!

We're developing software that will help us find patterns in all the data. We'll also analyze it by looking for specific things ourselves, such as the effects of tube-feeding on growth.

Important note

Some people may have participated in a study of CS that we published a few years ago (1); you can also help with this study by sending medical records if you didn't send them last time Thank you!

Reference

  1. 1. Natale V (2011) A comprehensive description of severity groups in Cockayne syndrome. Am J Med Genet Part A 155A(5):1081-1095. Abstract on PubMed.     Full text from Forgotten Diseases Research Foundation.


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Page last modified on 8 June 2017.