Israeli genetic scientists Dalit Ben-Yosef, Ph.D., and Rachel Eiges, Ph.D., were among the approximately 200 researchers and other experts presenting information at the recent 11th Fragile X Conference, held at Union Station’s Hyatt Regency Hotel, July 23 – 27 in downtown St. Louis.

Fragile X Syndrome, or FXS, is the most common cause of intellectual disability, formerly called mental retardation, and is the most common genetic cause of autism. FXS causes mental impairment, and is associated with hyperactivity and other behavioral difficulties. It is a genetic disease caused by mutation of the FMR gene on the X chromosome. FXS is more common in males but there can be affected females. Besides those individuals with full FXS, about one million American are carriers for the FXS mutation.

The local organizer of the conference was Margaret Israel, founding president of the Fragile X Resource Center of Missouri, an organization that provides parental support and educational outreach on Fragile X Syndrome. Fragile X Resource Center of Missouri was the local host organization for the Fragile X Conference.

“This international conference is sponsored by the National Fragile X Foundation, which has been in effect since 1984,” Israel said.

Researchers Dalit Ben-Yosef and Rachel Eiges presented results from their research study published in November 2007. Ben-Yosef is the In vitro Fertilization Director at the LIS Maternity Hospital in Tel Aviv, Israel. Ben-Yosef was the clinical side of the research team, and the research scientist half was Rachel Eiges, who is head of the Stem Cell Research Laboratory in Medical genetics at Shaare-Zedek Medical Center in Jerusalem. Ben-Yosef spoke in a panel discussion titled Stem Cell Research and Its Implications for Fragile X Research and Treatment.

“We got a grant from the Fragile X Foundation two years ago,” said Ben-Yosef. “This project is unique because it is the first time that human embryonic stem cells were used. Human embryonic stem cells were derived from Fragile X affected embryos. We have cells that are proliferated, we grow them in the lab, they carry the natural mutation for Fragile X and we can use it as a model to study the disease, for the Fragile X Syndrome.”

Ben-Yosef’s IVF clinic does not only treatment for patients with infertility but also patients with genetic diseases. The clinic routinely screens embryos for genetic diseases, such as Fragile X and Tay-Sachs. Genetic screening is not considered controversial in Israel, according to Ben-Yosef.

FXS is caused by a single gene mutation, which inactivates, or silences, a gene that makes a protein important in the brain. “We can discover new things about how the gene is silenced,” said Ben-Yosef.

The conference drew over 800 people, including families, scientists and educators, from 20 countries around the world. The conference offered both scientific research and practical advice, with seminar topics identified as “family-friendly” or scientific. Topics covered included basic research such as that presented by the Israeli scientists, clinical and practical techniques, ethical issues, help for advocacy and guidance for parents and families in coping with the challenges. Both professionals in the field and whole families regularly attend the international conferences, which take place every two years. It is not uncommon for attendees to be both professionals in the field and members of families affected by FXS.

Even in individuals without the full FXS mutation, there can be effects. There are two identified related syndromes, Fragile X Associated Tremor/Ataxia Syndrome, or FXTAS, which produces tremor, balance problems and memory problems often mistaken for Parkinson’s or Alzheimer’s diseases, and Fragile X Associated Primary Ovarian Insufficiency, or FXFOI, which causes early menopause.

Elizabeth Berry-Kravis, M.D., Ph.D., a leading researcher in the field, moderated the panel discussion that featured Ben-Yosef. Berry-Kravis also presented findings on her research, which holds promise for new treatment that focuses on the mechanisms by which the defective gene creates problems associated with Fragile X Syndrome. The research is considered a potential breakthrough in treatment.

Other scientists speaking at the conference included Dr. Sherman Silber, the prominent fertility doctor based in St. Louis, who was the subject of an article in the Jewish Light when he was honored by the Academy of Science -St Louis in April this year. Other experts presenting talks or participating in panel discussions included Dr. Randi Hagerman, of the MIND Institute at the University of California – Davis, whose research was key in the discovery of other syndromes associated with FXS.

Dr. Jonathan Cohen, Medical Director of the Fragile X Alliance in Victoria, Australia, and his wife, Rashelle Cohen, an optometrist, both spoke at the conference. Rashelle Cohen spoke on Visual Issues in Fragile X Syndrome, while Jonathan Cohen was one of a panel of speakers on Hurdles in General Population and Newborn Screening for Fragile X.

The Cohens are not only professionals in the field but one of the families affected by FXS attending the conference.

For many Jewish families like the Cohens, attending the conference, it was a rare opportunity to meet and socialize with other Jewish families facing the challenge of Fragile X.

“There are not many Jewish families in Australia,” said Jonathan Cohen, who traveled with his family from Melbourne to attend the conference. The Cohens have become close with organizer Margaret Israel and her husband, Dr. Martin Israel, and their family. Being able to connect with other Jewish families dealing with Fragile X was enormously helpful, noted Cohen.