At most a couple of thousand patients worldwide have the inherited disorder, which causes recurring fevers, rashes, joint pain and kidney damage.
Meanwhile, researchers had discovered the gene for Huntington's, a fatal inherited disorder.
An illustration earlier this year was the delay in FDA approval of a biological used to treat Pompe disease--a debilitating inherited disorder--that was to be manufactured in a new, larger-scale manufacturing facility.
That's an inherited degenerative disorder of the central and peripheral nervous systems.
Compounds in preclinical tests target cystic fibrosis (30, 000 people plus a thousand new cases per year), Huntington's disease (30, 000 cases) and Rett syndrome, a rare inherited brain disorder.
This month, a committee from the European Medicines Agency recommended the approval of a gene therapy drug, named Glybera (alipogene tiparvovec), for the treatment of a rare inherited genetic disorder.
FORBES: Europe Takes The Lead Toward Approval Of First Gene Therapy Drug
The study, which tracked 1000 patients in 16 countries for more than four years, was conducted by researchers from Queens University and Newcastle University in the UK. They focused principally on people with Lynch syndrome, an inherited genetic disorder that causes cancer by affecting genes responsible for detecting and repairing DNA damage.
FORBES: Study: Daily Aspirin Cuts Hereditary Cancer Risk in Half
It is a particular gamble if the child is conceived partly to provide a bone marrow graft for a brother or sister with a nasty genetic disease: not only might the new baby turn out be a poor match for transplantation, but might also have inherited the same disorder as his or her sibling.
Rothberg's 14-year-old daughter, the oldest of his five kids, has a mild form of an inherited disease called tuberous sclerosis complex, a relatively rare disorder (50, 000 or so Americans have it) that can cause benign tumors in the heart, kidney, skin, lungs, eyes and brain, where seizures can occur.
Those born with the disorder, which affects people from all races, inherited the genes from their parents who may or may not have any of the associated traits.
It's thought that inherited traits may play a role in who is susceptible to the disorder.
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