Nancy Wexler facts for kids

Quick facts for kids Nancy Wexler
Wexler in March 2015
Born	(1945-07-19) July 19, 1945 (age 80)
Nationality	American
Alma mater	Radcliffe College University of Michigan
Known for	Contributing to identification of the gene that causes Huntington's disease
Awards	Benjamin Franklin Medal in Life Science (2007)
Scientific career
Fields	Genetics
Institutions	Columbia University

Nancy Wexler (born July 19, 1945) is an American scientist who studies genetics. She is a professor at Columbia University. She is famous for helping to find the gene that causes Huntington's disease. This is a serious inherited illness. Even though she studied psychology, she chose to work in genetics.

Nancy Wexler's mother had Huntington's disease. This inspired Nancy to lead a research team. They went to a remote part of Venezuela where many people had the disease. She visited villages like Laguneta, San Luis, and Barranquitas. Her team collected DNA samples from a large family. Many family members had Huntington's disease. These samples were very important. They helped a group of scientists around the world find the gene. Nancy Wexler also helped create a test. This test can find out if someone carries the gene for Huntington's disease.

Nancy Wexler's Early Life and Education

Nancy Wexler was born on July 19, 1945, in Washington, D.C. She grew up in California and Kansas. Her father, Dr. Milton Wexler, was a psychologist. Her mother was a geneticist who taught biology. Both parents taught Nancy and her sister about science. They learned about nature, physics, and astronomy.

Nancy's grandfather died when her mother, Leonore, was young. Leonore learned about Huntington's disease (HD) from a library book. She read that it was a "fatal, inherited disease only affecting men." But her three brothers all had HD and died from it. The family kept this diagnosis a secret for many years. They said the uncles were "nervous" instead of ill.

When Leonore started showing HD symptoms, her ex-husband, Milton, kept it from her. She still thought only men got HD. When they finally told her, Nancy said her mother seemed to have known the truth all along.

Nancy Wexler decided early on that she wanted to learn everything about the disease. She attended many workshops. One film showed Huntington's patients living in a community in Venezuela. This was different from how patients in the U.S. were often cared for. Years later, Nancy became involved in research in Venezuela.

Her College and University Studies

From 1963 to 1967, Nancy Wexler studied psychology at Radcliffe College. She earned her degree in 1967. Then, she got her PhD in clinical psychology from the University of Michigan in 1974. She only took one biology class in college.

In 1968, her father started the Hereditary Disease Foundation. This foundation connected Nancy with many scientists. These scientists, along with books and lectures, became her teachers in genetics. Nancy and her sister, Alice, became very involved in the foundation. Nancy is now its President. The foundation raises money for research on HD and other inherited diseases. They also hold workshops for scientists working on these diseases.

Her older sister, Alice Wexler, is a historian. She also helped with Huntington's research. Nancy and her family are featured in Alice's book, Mapping Fate -A Memoir of Family, Risk, and Genetic Research. This book describes how the Wexlers dealt with their mother's illness. It also tells how they worked to advance HD research. Alice Wexler also wrote a book about the history of HD.

Here is a summary of Nancy Wexler's education:

• 1963–1967: A.B. degree from Radcliffe College.
• 1967–1968: Studied at the University of West Indies, Jamaica, on a Fulbright Scholarship.
• 1968: Attended Hampstead Clinic Child Psychoanalytic Training Institute in London, England.
• 1968–1974: PhD in Clinical Psychology from the University of Michigan.

For her PhD, Wexler wrote about Huntington's disease. She focused on how it felt to be at risk for the disease.

Nancy Wexler's Career and Research

In 1976, the U.S. Congress created a special group to study Huntington's disease. Nancy Wexler was part of this group. She and her team traveled to Barranquitas and Lagunetas. These are two villages in Venezuela near Lake Maracaibo. Many people there had Huntington's disease.

Starting in 1979, the team worked for twenty years. They collected over 4,000 blood samples. They also documented 18,000 different people to create a family tree. This helped them understand how the disease was passed down. They discovered that the gene was on chromosome 4. This discovery led to a test for the disease.

For her important work, Nancy Wexler has received many awards. These include the Mary Woodard Lasker Award for Public Service and the Benjamin Franklin Medal in Life Science (2007). She also has honorary degrees from several universities.

The Impact of Huntington's Disease on Her Family

Nancy Wexler's mother's symptoms got worse over time. Her fingers moved constantly, then her whole body had uncontrollable movements. Nancy explained that her mother's chair would move across the floor when she sat. Her head would hit the wall. To keep her safe at night, her bed was padded. Her mother also lost a lot of weight. She needed to eat at least 5,000 calories a day because of her body's unique needs. She passed away on Mother's Day in 1978.

Nancy Wexler continued her research on HD. She credits her father, Milton Wexler, for her drive. He and her sister Alice worked closely with her for many years. Eventually, her father felt science had become too complex. He handed his work over to Nancy and her colleagues.

Nancy Wexler has also held many important public roles. She chaired groups like the NIH/DOE Ethical, Legal and Social Issues Working Group. She also chaired HUGO, the Human Genome Organization. She has served on boards for the American Association for the Advancement of Science.

Finding the Huntington's Disease Gene Location

Nancy Wexler faced many challenges when she took over her father's work. Her main goal was to continue the research. Scientists studied DNA from patients with Huntington's disease.

In October 1979, Nancy Wexler learned about using "polymorphisms" as markers. These are small differences in DNA that can help locate genes. She was hosting a workshop and heard scientists talk about finding genes. This gave her an important idea. Because of her idea, James F. Gusella focused on finding HD markers. He quickly found a marker that could show if a person had HD. Wexler gave Gusella blood samples from the people in Venezuela. One after another, the samples confirmed his early finding.

Huntington's disease is a "trinucleotide repeat disorder." This means it's caused by a section of a gene that is repeated too many times. The HTT gene is found on chromosome 4. It has a sequence of three DNA bases—cytosine-adenine-guanine (CAG)—repeated many times. This repeated section is called a "polyglutamine tract."

Testing for Huntington's Disease

Since 1986, tests have been available to find out if someone will get HD before symptoms appear. These are called "presymptomatic" tests. There are also "prenatal" tests for babies before they are born. Nancy Wexler helped lead a program that offered these tests. She also worked as a counselor, talking to over 100 people about testing. She believes that detailed counseling is very important for both types of testing.

It was hard to find people for research studies. This was because there was no treatment or cure for the disease. Patients sometimes felt very sad and hopeless. They did not want to deal with the high chance of inheriting the disease.

Before the gene was fully identified, earlier tests used markers close to the gene. These tests could tell if a person was very likely to get the disease or not. Sometimes, the test could not give a clear answer.

Nancy Wexler and her sister Alice decided they did not want to know their own test results. Wexler learned that the disease usually appeared in middle age. But sometimes, it was found in children as young as two years old. The disease would affect muscles, including those used for swallowing.

Wexler often took her research personally because of her family's connection to the disease. She sometimes thought things happening to her were symptoms of HD. She thought about her own decision not to be tested. "I wonder if I would really be that much happier if I knew I wouldn’t get the disease," she said. Yet, she was curious to know. "When my sister and I both decided not to have children," she said, "neither of us ever expected anything to happen in our lifetime that might change that." Wexler continued her research even while thinking about her own testing. Testing was also done in Canada, Great Britain, and Europe.

Types of Prenatal Testing

Two types of prenatal tests are offered. The most common is "exclusion testing." This test tells if a baby has inherited the short arm of chromosome 4 from a specific parent. This test is helpful in two situations:

• When parents at risk do not have enough information about their family's genetics.
• When parents at risk prefer not to know their own genetic status.

If the test shows the baby has the chromosome from the affected parent, the parents must decide what to do. The test is about 96% accurate in predicting if a person will develop the disease.

Thoughts on Genetic Counseling

Wexler believes that people who come for presymptomatic testing benefit greatly from counseling. Sometimes, the counseling itself is more helpful than the test. Her ideas about counseling come from her own experience and talking with other experts. Being at risk for HD deeply affects most people's lives. They may have had a sick parent or other relatives with HD. Almost everyone welcomes the chance to talk with someone who understands what they are going through. Wexler says, "The genetic test gives people a crystal ball to see the future."

Tetrabenazine Medication

On December 6, 2007, a company called Prestwick Pharmaceuticals presented information to the United States Food and Drug Administration (FDA). They talked about a drug called tetrabenazine. This drug helps treat "chorea," which is a symptom of Huntington's disease. Chorea causes uncontrolled movements.

Nancy Wexler wrote a message to her Hereditary Disease Foundation about the safety of this drug. In her letter, Wexler said she would speak to the FDA committee. She would share her personal experience with HD. She believed tetrabenazine could help people with HD. Before this, there were no approved treatments in the United States for chorea related to HD. She encouraged patients with chorea to speak up about the need for tetrabenazine. With Nancy Wexler's help, tetrabenazine was approved by the FDA.

See also

In Spanish: Nancy Wexler para niños