Home » Health » Frequented by a gene: the New York Times

Frequented by a gene: the New York Times

The scientists, arriving by boat, found patients everywhere, some of them children, with the classic contorting and imperfect signs of the disease, which was known locally as “el mal”.

Dr. Wexler told them that she and they were related, that her family also had the disease. He showed them a small scar on the arm where he had taken a sample of skin, while he was asking them to do.

“I fell in love with them,” he said.

For 20 years, she has returned with teams that eventually collected 4,000 blood samples. They traced the path of the disease through 10 generations in a family tree that included more than 18,000 people.

“Working with Nancy in Venezuela has been a true testament to how an individual can take a team and completely extract water from a brick,” said Dr. Anne B. Young, professor and former chief of neurology at Massachusetts General Hospital. , who made 22 trips to Venezuela with Dr. Wexler. “She was able to take us all and guide us, 16 hours a day on the field where there were 96 degrees and 90 percent humidity.”

Dr. Wexler was a powerful presence.

“It was just totally charismatic and when you entered the room he hugged you and looked you in the eye and listened to everything you said,” said Dr. Young. “She never thought of herself. He always thought about what he could learn from the other person. People have become totally devoted to her. Everyone thought they would take a bullet for her. “

In 1983, just four years after the first trip, the team found a marker, a stretch of DNA that was not the gene itself but in the vicinity. It took half a dozen high-power research teams – selected by Dr. Wexler and his father – another 10 years to find the gene itself, on chromosome 4, one of the 23 pairs of chromosomes present in most cells of the body.

The discovery was a landmark in genetics, which scientists say would never have happened without Dr. Wexler.

Leave a Comment