When Dr. Jannine Cody’s daughter Elizabeth was born with a chromosome 18 defect, physicians told her the girl would never progress beyond a vegetative state. Chromosome 18 conditions result from gene deletions or duplications in that chromosome. Not willing to accept this prognosis, Dr. Cody focused herself on studying the disease, eventually earning her Ph.D. in Human Genetics. She is now a researcher at the University of Texas, San Antonio and founder and president of the Chromosome 18 Registry and Research Society. Her daughter Elizabeth is now in her 20s and has gone to college.
That physicians were unable to accurately predict Elizabeth’s future health is not a surprise. These diseases are so rare that most doctors are unlikely to see even one case in a career. Quite often, the people who know the most about a rare disease are parents and, in some cases, biomedical researchers. Dr. Hudson Freeze studies Congenital Disorders of Glycosolation (CDG) at Sanford-Burnham. CDG is a family of diseases in which defective enzymes fail to add necessary sugar chains to proteins, creating multiple medical issues. Dr. Freeze, who is co-chairing our Second Annual Rare Disease Symposium, has developed long-standing relationships with physicians, families and patients around the world. They often contact him directly because he can provide important insights into CDG.
“There was very little training in medical schools for glycobiology,” says Dr. Freeze. “So when patients started to turn up with these diseases there was no place for these physicians to go. They were forced to come to the basic researchers. That’s pretty different.”
The rarity of these diseases also affects the availability of treatments. Large pharmaceutical companies may not be interested because they do not see return on investment. Regulatory agencies have trouble judging their effectiveness because it’s difficult to find enough patients to conduct large clinical trials.
Dr. Emil Kakkis has spent his career trying to solve both of these problems. He became interested in rare diseases while working on his Ph.D. At the time, researchers were beginning to discover the genes responsible for these conditions, and Dr. Kakkis wanted to help translate those discoveries into treatments. He joined BioMarin Pharmaceutical, where he shepherded three drugs to market.
However, Dr. Kakkis became concerned that the regulatory process was too cumbersome and made it difficult to develop drugs for rare diseases. He created the EveryLife Foundation to , as he calls it, “cure the process.”
“We are working on scientifically sound and effective changes in regulation,” says Dr. Kakkis. “It’s not about making it easy, it’s about getting it right.”
Drs. Cody, Kakkis and Freeze will be speaking at the Second Annual Rare Disease Symposium, which will be held February 25 from 9 a.m. to 5 p.m. PST at Sanford-Burnham’s La Jolla campus.If you cannot attend in person, we encourage you to view all or part of the symposium on our live video feed.