A groundbreaking medical geneticist and pediatrician, Dr. Annick Raas-Rothschild has been doing genetic research in the Hadassah Medical Center’s Human Genetics Department since 1998. “I am the mother of orphan diseases,” she says.

“These are rare disorders,” she explains, “which have a prevalence of fewer than five cases in every 10,000 people, and they fascinate me.”

Born and educated in Paris, Dr. Raas-Rothschild is married to an Israeli whom she met in Paris when she was five years old.  She and her husband came to live in Israel in 1983—six years after they married. Dr. Raas-Rothschild already had her medical degree and began a residency specializing in pediatrics at Meir Medical Center, adjacent to Tel Aviv. She went on to head Meir’s pediatric day care for two years.

“I was seeing children with complex unexplained diseases and I wanted to know more,” Dr. Raas-Rothschild relates. This led her to an interest in medical genetics. During her residency, she met one of Israel’s first medical geneticists, Dr. Richard M. Goodman, and took an elective course with him, followed by a medical genetics fellowship.

When back in Paris for an 18-month post-doctoral experience, Dr. Raas-Rothschild mapped the gene for mucolipidosis III—a rare disorder also known as pseudo-Hurler polydystrophy. The inherited metabolic disorder is characterized by an enzyme abnormality with multiple organ involvement. Patients with this disease usually have skeletal abnormalities, short height, and corneal clouding.

It is important for parents to know what medical problems to anticipate when their child has a genetic abnormality, she notes. For example, she explains, one third of children with Down syndrome have kidney problems and if parents know this, preventive steps can be taken to mitigate complications. By the same token, although children with Down syndrome have lower intelligence, they typically enjoy music and drawing and if parents are aware of this tendency, they can tailor their children’s education accordingly.

Children with Smith-Magenis syndrome—a developmental disorder that affects many parts of the body—“have very poor sleep patterns, which often means they exhaust the entire family,” says Dr. Raas-Rothschild. “But if you know this, she adds, you can give the child melatonin and he will be able to sleep at night.”

Dr. Raas-Rothschild has three children—one son, age 26, another age 14, and a daughter age 20. “I’m proud of my French roots, upbringing, and education,” says Dr. Raas-Rothschild, “but the move to Israel was the right one for us all—professionally, culturally, and as a family.”