When researchers at UCLA uncover a new illness, they offer a response to years of unanswered questions, providing much needed peace of mind to many families.
The genetic research conducted at UCLA laboratories has created a paradigm shift in cancer therapies. UCLA physician and scientist Dr. Antoni Ribas is pioneering the use of immunotherapies, activating patients’ own immune systems to target tumors. The use of combination therapies, or, pairing the genetic marker with drugs called MEK inhibitors, has become the FDA standard for certain cancer treatments.
Ribas’ work resulted in the drug Keytruda, which achieved “breakthrough therapy” status for melanoma treatment, allowing it to be fast-tracked for approval. Keytruda has achieved such a level of effectiveness that it is now approved to treat the most common form of stomach cancer. Groundbreaking research at UCLA has also led to FDA approval for Cyramza, which attacks a type of lung cancer, and Ibrance, a “breakthrough status” drug that treats an estrogen-receptive-positive breast cancer.
Established in 2006, the Center for Duchenne Muscular Dystrophy is a collaboration among UCLA scientists, clinicians and researchers who realized the need for an integrated multidisciplinary center to care for children and young adults suffering from this debilitating rare genetic disease that carries with it a progressive loss of muscle movement and a life expectancy of 25 years. The Center’s efforts span education and outreach, leading-edge research, drug discovery, clinical trials and care. Scientists at UCLA developed the first FDA-approved therapeutic drug for the disease. The Center is the first of its kind in the West and a cornerstone of the new California Center for Rare Diseases at UCLA.
In 2017, UCLA researchers were alerted to the case of a six-month-old Lebanese boy with ADA-SCID, or bubble baby disease, a genetic mutation wherein the baby must stay isolated to avoid exposure to viruses and bacteria. Led by UCLA’s Dr. Donald Kohn, scientists developed a cure using stem-cell gene therapy. The baby’s own cells were modified with the right genes, then transfused back into the body, where they will learn to grow new, healthy cells.
Genomic sequencing is one of science’s greatest tools, providing the ability to not only test not only a child showing symptoms of a developmental disorder, but also the child’s parents. This technique is called trio sequencing and is conducted routinely at the California Center for Rare Diseases at UCLA. A memorable case using this technique is that of 4-year-old Chloe, who came to the clinic with facial anomalies, heart defects, and low muscle tone.
Trio sequencing revealed that she carried a de novo DNA mutation, or a mutation from one of her parents, called KAT6A. The mutation did not match any documented disease, thus confirming the team’s discovery. There is no cure for the disease, but now—armed with an awareness of the mutation in their family and resulting illness— Chloe’s parents and their doctors can make a more precise treatment plan for the future.