3-1_3-11 Genetic Disease _ Gene Therapy

3-1_3-11 Genetic Disease _ Gene Therapy - Genetics in...

Info iconThis preview shows pages 1–2. Sign up to view the full content.

View Full Document Right Arrow Icon
1 Scientists Solve Rare Bone Disease Mystery By VERENA DOBNIK NEW YORK (AP) - Scientists have discovered a mutant gene that triggers the body to form a second, renegade skeleton, solving the mystery of a rare disease called FOP that imprisons children in bone for life. Genetics in Current Events (thanks to Sarah Nashed ) ``We've reached the summit,'' said Dr. Frederick Kaplan , an orthopedist whose team at the University of Pennsylvania School of Medicine pinpointed the cause of FOP, or fibrodysplasia ossificans progressiva . The disease is believed to afflict only 2,500 people worldwide. After 15 years of work involving study of multigenerational families around the world, scientists at Penn's Center for Research in FOP and Related Disorders found that FOP is caused by a single mutation in a gene called ACVR1 . This devastating glitch means that tendons, ligaments and skeletal muscle begin painfully transforming into bone, sometimes locking joints overnight. Genetics in Current Events The genetic twist that leads to FOP, Kaplan said in a telephone interview, ``is relevant to every condition that affects the formation of bone and every condition that affects the formation of the skeleton.'' ``In the next five years, this might open up the possibility of developing drugs that would be effective in stopping bone formation,'' said Dr. Victor A. McKusick* , at Johns Hopkins University School of Medicine in Baltimore. He said the FOP genetic breakthrough is likely to shed light on other related diseases.``The first thing that comes to mind is osteoporosis, which is the flip side of the coin when it comes to bone formation,'' he said. ``When one learns about one side - extra bone growth - it helps you understand what goes the other way'' - bone breakdown. Stephanie Snow, a 15-year-old with FOP, hopes the finding will lead to a drug that can stop the stiffening damage to her body, which includes a fused, immobile neck, arms she can't raise and problems with hip mobility. The Santa Maria, California teenager dreams of becoming a veterinarian.``If they develop a pill we can take every day, I can move and do more things, and it might be easier for me to become a vet, like I've always wanted to,'' she said. * Lead author and editor of Mendelian Inheritance in Man Human Genetic Disease and Gene Therapy Genetic Analysis 2 March 1 & 3, 2011 INTRODUCTION Genes underlie every aspect of human health. Every disease susceptibility probably has some genetic component. Knowledge of how genes work together and interact with the environment is very important. It will have a profound impact on the way diseases are diagnosed, treated and prevented in the future. Such changes are already beginning.
Background image of page 1

Info iconThis preview has intentionally blurred sections. Sign up to view the full version.

View Full DocumentRight Arrow Icon
Image of page 2
This is the end of the preview. Sign up to access the rest of the document.

Page1 / 13

3-1_3-11 Genetic Disease _ Gene Therapy - Genetics in...

This preview shows document pages 1 - 2. Sign up to view the full document.

View Full Document Right Arrow Icon
Ask a homework question - tutors are online