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In more than 30 years as a researcher and specialist in bone diseases, Dr. Robert Recker had never seen someone like him. It was normal from 18 years, Nebraska, 5 feet 4 inches in size, 125 pounds is not recognizable with malformations of the skeleton - unless his bones were so close that virtually unbreakable.

They went in the office Recker a Friday in November 1995, about a year, since after a car accident for a routine check of his spine, and moving, that research could one day to treatments of ‘osteoporosis and other debilitating bone diseases.

Recker could hardly believe what he saw that day. The young woman was 50 percent denser bones than normal for someone his age.

Suspected was genetic trait, he asked the woman’s mother, even if it could test its bones and they had the same incredibly dense bone.

“I almost fell from my chair,” said Recker.

The discovery began on a professor at the Creighton University a long quest to feel, other family members and isolate the genetic mutations that result in the anomaly bone. In 1997, Recker and his colleagues at the University of Nebraska with genomics Therapeutics, a Waltham company, which specializes in genetic analysis.

Their knowledge, published today in the American Journal of Human Genetics, could pave the way for a breakthrough for the treatment of osteoporosis, a disease that affects 10 million people in the USA and almost half of all women more than 75 years. Nearly $ 14 billion spent on the prevention and treatment of disease, so that the effectiveness of a drug blockbuster potential.

During Recker Genome Therapeutics and decipher the biological processes by genetic mutations, their pharmaceutical partners Wyeth-Ayerst is already working, a drug, it would imitate their effects, reversing the deterioration of bone density, osteoporosis.

“Drug society in general view on the usual suspects,” said Randall Little, assistant director of the genome of human genetics. “Nobody would ever have predicted that the involvement of this gene in bone biology.”

The scientists knew the existence of the gene. They knew he fell into a category of gene thought to regulate fat. But they knew little different in this respect. Even if a drug is still years away, lessons learned from this investigation, one family’s mutation opened the door to a new field of possibilities.

It is unlikely to researchers, a gene directly in the management of bone density. And at a time when most treatments for osteoporosis focus on halting the loss of bone density, it provides guidance on how the reconstruction and strengthening of bones.

“That’s what’s so exciting to this discovery,” said Recker.

Within a few days for the control of the young woman and her mother, brother and father came also for bone density scans. Neither was particularly dense bones. But fascinated by the discovery and eager to help the family agreed to Recker in contact with other parents and cooperation in research. Lecturer fell by the family to protect their confidentiality.

Recker has worked with university officials the establishment of the study. It schabte with research funds from its budget. He recruited his wife, support for research and making contact with family members, and they spent a year at the screening of more than 200 families.

Cousins gekritzelt tree stumps on the remains of paper to help Recker and his wife, other relatives. Recker wife planed archives of newspapers for reminders and others. The man-woman, the team traveled to Wyoming, California, New York and South Dakota, which measures the density of bones and blood samples from family members.

In one case, Recker arranged to have a motive to drive a friend to measure bone density unit of Billings, Mont., Jackson Hole, Wyo., because one family was afraid to fly. In another, Recker a family reunion in Aberdeen, SD, where a large number of parents have lived.

In the end, Recker, the genetic mutation back on a 86-year Matriarchin, the oldest family member living with the train. He probably thinks that the transfer began with their parents or grandparents. And he has reduced the potential circle of family members on 37

Among those polled, 17 in fact divided their genetic abnormally high provision for bones. Not one of them have never had a broken bone or broken. What was truly remarkable, Recker said that his bones were most dense in the areas of the skeletal system, as the hip and spine, which bear the weight of the main body weight wins. In the arms and other extremities, their bone density was normal.

Just as the genetic mutation control bone density remains an enigma, but Recker and his research colleagues, it increases the sensitivity of natural bone on the weight and pressure. All bones develop force in response to the emphasis on them. Family members with the mutated gene, but little to build strong bones, in response to a normal weight and pressure.

“The cells, whose bones are the same. It is more than that,” said Recker. “Your bend the bone is not so much normal charges.

They do not break as much. They are Super bones. “After the circle of family members was cut to 37, Creighton Recker and his colleagues for months his DNA analysis to identify the location of the genetic abnormality. Verengten it in a region on chromosome 11 contains several hundred genes.

Insulate the mutation, Recker knew he would need help. In 1997, it was April in cooperation with Genome Therapeutics. Genomes funding its research. The company would also have to bear its own resources and know-how to read, clone and isolate the gene.

Even with the experience of the company on the closure in the region chromosome, a genetic mutation that lasted another year. The analysis from generation to generation of the family, finally, the genome of a single section, with 14 genes, that all members of the family had inherited.

The company spent an additional year, the sequencing of genes 14 - a task that was far more disheartening then, before the Human Genome Project was completed. Among them, the company found many variations. But he found only one concerned by all members of the family and nobody else.

None of the other family members were mainly the mutation on the gene LRP5. Similarly, one of thousands of other individuals whose genetic makeup compared to that of family members incredibly dense, with bones. Genome research, laboratory tests double checking their discovery. They knew they were in mice with the mutant gene as little dense bone.

Within months, because the mutation has been the cornerstone of society alliance with Wyeth-Ayerst develop drugs for the prevention and treatment of osteoporosis. The partnership, which began in late 1999, is as much a value of $ 118 million in advance and milestone payments to the firm Waltham, without charges.

Steven Rauscher, Chief Executive’s genome, said the pharmaceutical giant has experience and genetic resources for health discovery in reality. Genome is now working to determine how many possible points of attack for a potential drug, in the hope that Wyeth neuentdeckt biological understanding to create a drug, osteoporosis that attacks on its very roots.

“This is the promise of genomics - new drugs, the underlying causes of the disease,” said Rauscher. “The promise is preferable drug