Martin Hewison, PhD, analyzes vitamin D metabolism in human tissues and diseases using high-performance liquid chromatography equipment.
Understanding Metabolic Diseases
Metabolic diseases go by many names, and none of them are welcome in anyone’s life: arthritis, asthma, diabetes, kidney or liver disease, lupus, inflammatory bowel disease. These are just a few metabolic diseases with one thing in common: All turn the human body into its own worst enemy, with life-limitingoften painfulconsequences.
If we understand the why and the how, we can overcome these painful disorders. Today, we’re at work identifying risk factors and improving diagnostics, developing new drugs and targeted therapies, and finding genetic markers. While metabolic diseases are all about the body out of tune and out of rhythm with itself, meaningful, effective treatments promise to restore harmony and health.
Mark Pimentel, MD, is Director of the Gastrointestinal Motility Program and Laboratory at Cedars-Sinai.
Cedars-Sinai has already set many milestones in the treatment of metabolic illnesses, including:
- Identifying a genetic marker for inflammatory bowel disease that indicates whether the disease will be aggressive or benign
- Discovering a new protein that regulates intestinal inflammation in Crohn’s disease
- Developing new drugs for the treatment of pituitary tumors
Embracing Life Again
At age 6, Emma Sweaza became one of approximately 200,000 children in the U.S. diagnosed with Inflammatory Bowel Disease, an umbrella term for chronic conditions like Crohn’s disease and ulcerative colitis which cause painful inflammation in the digestive tract. Emma’s condition went from bad to worse, and within a short time, she was missing school, afraid to leave home for fear of having an intestinal flare up.
“I had to take a bunch of medicinesometimes more than 20 pills a dayand have my blood drawn all the time,” says Emma, today 11 years old. “My parents took me to several pediatric gastroenterologists, but no one was able to make me feel better.”
That was until she met Marla Dubinsky, MD, Director of the Pediatric Inflammatory Bowel Disease Program at Cedars-Sinai, who treated her with new medications, dietary changes, and ultimately, surgery. The Pediatric IBD Program at Cedars-Sinai provides a full range of patient-centered care that includes nutritional and psychosocial programs designed for young patients. Thanks to the surgery, Emma was able to go back to school and start living a normal life again.
The causes of IBD are still unknown, but Dr. Dubinsky and her team are evaluating genetic and immune factors leading to disease development in children, medication safety, and promising new treatments.
“The Pediatric IBD Program at Cedars-Sinai doesn’t just treat my illness; they also make sure that I am eating and growing well, that I have good self-esteem, and that I don’t get too sad while dealing with a chronic illness.”