Today we held our fourth annual symposium marking Rare Disease Day. As keynote speaker William A. Gahl, M.D., Ph.D., noted, “it takes a village” to diagnose, treat, and care for people with rare diseases. By “village,” he meant parents, advocates, doctors, basic scientists, clinical researchers, government officials, and philanthropists—all of whom were represented at the event. Gahl is clinical director of the National Human Genome Research Institute (NHGRI) and director of the NIH Undiagnosed Diseases Program
José Luis Millán, Ph.D. and his lab have studied hypophosphatasia, an inherited disease that makes bones dangerously fragile, for the past 15 years. The researchers developed a mouse model of the disease—mice that, like their human counterparts, lack an enzyme called alkaline phosphatase. Then, just about five years ago, scientists from Enobia Pharma approached Millán. They had developed an enzyme replacement therapy called ENB-0040 and they needed someone who could help them test it—someone with a model and with extensive knowledge of hypophosphatasia and the alkaline phosphatase enzyme. So Millán and his team administered it to their mice. Mice with hypophosphatasia usually survive for 20 days at most. When the treated mice were alive at day 21, Dr. Millán knew they were onto something promising.
Ten year-old Mason Barto is a sweet Pennsylvania fifth grader almost like any other. Except that he’s lived with a tracheotomy, a permanent feeding tube, and a number of other health problems since birth. Mason’s condition was inherited, but for most of his life no one could pinpoint the genetic cause of his health problems. They didn’t even have a name for it.
Then, a few months ago, Sanford-Burnham’s Dr. Hudson Freeze and his team finally discovered the genetic defect underlying Mason’s health problems and diagnosed him with what’s called a congenital disorder of glycosylation (CDG). In other words, Mason has a mutation in a gene that directs glycosylation—the process by which cells coat proteins with sugars. Lack of sugars disrupts cell growth, differentiation, and communication. There are several different types of CDG and symptoms and severity can vary widely.
While it doesn’t mean there’s an immediate cure for Mason, he is now taking a simple sugar therapy and is beginning to show early signs of improvement. The finding also gives new hope to other children living with this condition.
Rare diseases are roughly defined as conditions affecting fewer than 200,000 people in the United States. Although a relatively small number of people are diagnosed with each individual disorder, there are 6,000 different rare diseases. Added together, these affect 1 in 10 Americans—30 million people.
Today, February 29, is the rarest day of the year and also Rare Disease Day. Last week, we held our 3rd annual Rare Disease Symposium. Today, there are events being held all over the U.S. and the world. Here are just a few:
National Institutes of Health (NIH) is holding a day-long celebration and recognition of the various rare diseases research activities supported by the NIH.
National Organization for Rare Disorders (NORD) will be live-streaming the Rhode Island Rare Disease Foundation Awareness event taking place 6:00-8:00 p.m. ET today in Cranston, RI. NORD is also sponsoring a Handprints on the Hill campaign to encourage everyone to join us in sending an important message to President Obama, members of Congress, and other elected officials.
For more information, check out:
Pictures from Sanford-Burnham’s Rare Disease Day Symposium 2012
Keynote talk by Dr. Eric Green, director of the National Human Genome Research Institute
Video, blog posts, and more from Sanford-Burnham’s Rare Disease Day Symposium 2011
Rare disease research at Sanford-Burnham
At Sanford-Burnham’s 3rd annual Rare Disease Day Symposium, held today in La Jolla, Calif., keynote speaker Eric Green, M.D., Ph.D., director of the National Human Genome Research Institute at the NIH, spoke about genomic medicine. Sometimes called “personalized medicine,” or even “precision medicine,” Dr. Green defined this revolutionary field as the idea that health care can be tailored to the individual based on his or her own genomic information.
Dr. Green was there when the human genome was first sequenced in 2001 and he’s now leading the next step—figuring out how to use that information. In his talk, Dr. Green outlined five active research areas that are taking us from what he called “helix to health:”
What: Third Annual Sanford-Burnham Rare Disease Day Symposium: Identifying and Treating Genetic Diseases in Children
Where: Sanford-Burnham Medical Research Institute, La Jolla, Calif., Building 12 (map)
When: February 24, 2012 – registration opens at 8:00 a.m. PT, program begins at 9:00 a.m. PT
Keynote speaker: Dr. Eric Green, director of the National Human Genome Research Institute
Program and free registration: click here
Symposium flyer: download PDF
Can’t make it? Submit your genetic disease-related questions for panel discussion to Nick at firstname.lastname@example.org. The symposium will be recorded and available on Sanford-Burnham’s website shortly after the event.
Sanford-Burnham’s successful series of Rare Disease Day symposia is based on the concept that treatment of rare diseases requires participation and exchange among all stakeholders—scientists, physicians, affected patients and their families, support groups, granting agencies, industry, and philanthropists. This year’s event, organized by Hudson Freeze, Ph.D., will focus on glycosylation-based disorders.
A few highlights:
- Attendance by several children with Congenital Disorders of Glycosylation who are now benefiting from new therapies
- Lunchtime panel discussion for patients and researchers
- Presentation by patient advocacy group
- Discussion of how one rare disorder relates to Parkinson’s disease
What: 3rd Annual Sanford-Burnham Rare Disease Symposium
Where: Sanford-Burnham Medical Research Institute, La Jolla, Calif.
When: February 24, 2012
Keynote speaker: Dr. Eric Green, director of the National Human Genome Research Institute (NHGRI) at the NIH
Sanford-Burnham’s successful series of Rare Disease symposia is based on the concept that treatment of rare diseases requires participation and exchange among all stakeholders—scientists, physicians, affected patients and their families, support groups, granting agencies, industry, and philanthropists.
This year’s event, organized by Dr. Hudson Freeze, will focus on Glycosylation-Based Disorders: Discovery, Patients, and Progress Toward Treatments.
Save the date now. Program and registration information will be available soon. In the meantime, video and media coverage of last year’s event are available here.
This video of three year-old Corinna is remarkable because it would seem so unremarkable if you didn’t know Corinna’s story—she looks just like any other kid. I had the pleasure of meeting this very special attendee at Sanford-Burnham’s 2nd Annual Rare Disease Day Symposium last February. Corinna was born with hypophosphatasia (HPP), a rare inherited disease that affects bone development, leaving her fragile and unable to walk. Lauren, Corinna’s mother, had brought her along to the symposium and was excited to meet the scientists studying HPP and hear about the latest research.
The family traveled from Philadelphia to be there that day – no small task, considering Corinna’s special needs and lack of mobility. I first talked to Lauren on the phone, helping her with directions from her hotel to the Sanford-Burnham campus. Then I waited for them outside and helped her get the stroller out of the taxi. I set it up while Lauren got Corinna out of the car. Corinna was blond, adorable, friendly—and just about the same size as my own daughter. My heart went out to them. I know how trying it can be to travel with a toddler, even under the best of circumstances.
There was a moment at our recent Rare Disease Symposium when Dr. Michael Whyte, a pediatrician from Shriner’s Hospitals in St. Louis, presented video of a patient who is participating in a clinical trial. The patient, Amy, suffers from hypophosphatasia (HPP), a genetic bone disease similar to rickets. The trial is for an enzyme replacement therapy developed collaboratively by Dr. Whyte, Dr. José Luis Millán and Enobia Pharma to treat HPP. Before treatment, Amy’s bones were so soft she had to be flown to the trial in an insulated box. She was weeks away from dying. In the video, she runs, jumps and kicks a ball. Hard not to be moved.
Enobia’s HPP drug is in Phase II clinical trials and looks quite promising. However, rare diseases present a difficult problem. While relatively few people suffer from any single rare disease, there are thousands of these conditions. Large pharmaceutical and biotech companies have a difficult time addressing them because they have not figured out how to make back their investments. But the issues go even deeper. How do you conduct a robust clinical trial on a new treatment when only a handful of people need to be treated? And how do you balance the regulatory environment to ensure that new, safe treatments can reach patients? In fact, how do you even diagnose a rare disease when so few physicians have any experience with it?
Today is Rare Disease Day and Dr. José Luis Millán, a professor in our Sanford Children’s Health Research Center, held a live chat on hypophosphatasia(HPP), a rare, genetic bone disorder similar to rickets. HPP patients’ bones do not mineralize properly. In some cases, a patient’s bones are so soft they can barely be touched without breaking.Dr. Millán has been working for several years with Dr. Michael Whyte, of Shriners Hospitals for Children in St. Louis, and Enobia Pharma to develop an enzyme replacement therapy for HPP. Though still in clinical trials, the treatment has so far shown dramatic results. In some cases, children who probably would not have survived without treatment can now run, jump and develop normally.
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.
On February 25, 2011, Sanford-Burnham will hold its Second Annual Rare Disease Symposium at the Institute’s La Jolla, California campus. Chaired by Drs. Hudson Freeze and Yu Yamaguchi and sponsored by Enobia Pharma, the symposium will feature researchers and patient advocates from around the world. The symposium coincides with national Rare Disease Day on February 28.
In the U.S., diseases are classified as “rare” when they affect fewer than 200,000 people. But since there are around 7,000 such disorders, a total of 30 million Americans are affected. Because of the rarity of these diseases, patients and their families often struggle to find information, and many have started advocacy groups to raise awareness and reach out to other families who need help. These families can be a great help to researchers, having gained personal Ph.D.s in the intricacies of an uncommon disease. Several of these parent advocates will attend the event.