Chairman's Corner

Rare Disease Day

What makes Stanford unique isn’t just its beautiful and sunny campus, or its proximity to Silicon Valley, it’s also our faculty’s commitment to tackle the most complicated, unusual or mysterious medical cases, and their determination to find solutions. Sometimes this means developing treatments and cures, but more often it entails years of spreading awareness, engaging the community, and affecting policy changes, in hopes of expanding resources for some of the rarest conditions. When I first became a neurosurgeon, I did not think that much of my career would be spent treating patients with a rare disease. While we didn’t know as much as we know now about the nervous system, and more specifically diseases that affect the nervous system and how to treat them, I certainly didn’t imagine a rare disease like Moyamoya would be central to my research and clinical care. But, it turns out, rare diseases affect many of us, not just those of us in healthcare.

According to the NIH, there are approximately 7,000 identified rare diseases in the U.S., defined as a disease affecting less than 200,000 people. While individual rare diseases affect small portions of the population, the combined total of people living with a rare disease in the United States is estimated at 25-30 million. So, it seems a fair assumption that at some point in your life you, or someone you know, will face dealing with a rare disease, and will likely find that little information is available and that few medical centers treat it.

One of the greatest problems with rare diseases is that there is so little awareness and education about them, that even specialists do not identify their symptoms right away, or sometimes they remain undiagnosed or untreated all-together. At Stanford, everything we do is based on a drive to discover answers, particularly for those with the most complex or rare disorders. In addition to my research in Moyamoya, many of our faculty focus their research and clinical efforts on rare diseases. For example, Dr. Gerald Grant is collaborating with experts at Nicklaus Children’s Hospital in Miami to conduct a trial using focused ultrasound for children with tuberous sclerosis, a rare genetic disease that causes tumors throughout the body. Several of our specialists across the Stanford campus are joining forces to create a comprehensive skull base surgery program that pioneers the least invasive, most effective treatments for rare disorders such as adenoid cystic carcinoma. In our new Neurosurgical Anatomy Lab, veteran surgeons are teaching residents how to perform complicated and nuanced surgical procedures for treatment of rare aneurysms. Next month, Dr. Steven Chang is hosting Stanford’s first Facial Pain Association Conference, aimed at bringing together clinical experts and patients to develop new solutions for those affected by the rare and painful disease, Trigeminal Neuralgia.

Many of our patients come to us because they have a rare disease and so few other places have answers for them. World Rare Disease Day is recognized just once a year, but in my line of work, we think about rare diseases every day, and we’re working hard to ensure all patients, no matter how rare their neurological disease, can find answers and therapies that will extend and improve their lives.

Happy New Year

I’m incredibly proud of our department’s accomplishments over the past year, and am confident the work we are doing continues to improve the quality of our patients’ lives.

In 2017 we welcomed four new faculty to the department, including two translational scientists, a new pediatric neurosurgeon, and a peripheral nerve surgical specialist. Our scientists and surgeons continued to push the boundaries of translational research and refining surgical techniques; integrating pioneering use of robotics in surgery, implementing the use of virtual reality in the operating room, and publishing results from a wide variety of studies focused on everything from epilepsy to brain tumors.

This past year our team worked with California legislatures to pass a new resolution declaring May 6 Moyamoya Awareness Day in California, an important step in spreading awareness for this relatively unknown disease. We also saw a renewed public interest in, and a great deal of media coverage about our stem cell therapy for stroke studies - culminating in a special ceremony where I was honored by the Smithsonian Institution with their Annual American Ingenuity Award for Life Sciences. I was surprised and humbled by the recognition!

I’m pleased to kick off the new year with the launch of our Department’s first e-newsletter, which will provide insights and the latest news to anyone interested in staying up-to-date with our Department. I am also looking forward to continuing to expand our department in 2018 with the hiring of new faculty specializing in skull base and pituitary tumors, complex spine surgery, and stem cell research. I’m eager to see what new scientific discoveries and clinical advances our researchers and clinicians will develop in the coming year, and am looking forward to sharing many more of our upcoming achievements with all of you. Happy New Year!