Introduction: The Gene Doctors (01:58)
Every year more than a million babies are born with genetic diseases; gene doctors are revolutionizing medicine and therapies, giving patients hope. (Credits)
Personal Motivators (03:33)
Sonya and Eric are aspiring biomedical researchers looking for a cure to the genetic disease that inflicted her mother; with collage art, she explains the process of losing her to fatal familia insomnia, a rare illness causing neural damage. Sonya is also at risk of having the mutation.
Inherited Risks (03:22)
Genes are composed of A, T, C, and G molecules, mutation of their order can result in disease. Errors in DNA impact a cell's ability to make certain proteins, which have many different, vital health functions. Sonya gets tested for an inherited brain disorder, and results positive; she has been given until her fifties to live, and hoping to find a cure.
Correcting Vision (08:04)
Molly Troxel was born with symptoms of poor sight; she was later diagnosed with a rare inherited blindness and declared legally blind. She now sees as a result of experimental surgery; an ophthalmologist and eye surgeon first performed the operation on dogs. Viruses act as delivery vehicles for correct copy DNA. A genetic eye disease specialist explains inherited mutation, and Molly's specific condition.
Gene Therapy (04:38)
The goal of the Human Genome Project was to determine the DNA sequence of all human genes, and to revolutionize medicine. During clinical trials, Jesse Gelsinger had a severe immune response to a viral vector; he died in four days. The tragedy impacted the genetic research community, studies were shut down; in 2005, new trials were conducted with safer vectors.
Austin and Max Leclaire have been diagnosed with Duchenne Muscular Dystrophy, a rare and fatal genetic disease affecting balance and muscle function, and causing organ failure; by 20, most inflicted die of respiratory failure. A defect in the DMD gene restricts the production of dystrophin; scientists are researching a new drug allowing the protein formation; it is not a perfect solution, but is working. The clinical trials are emotionally and physically taxing; the Leclaire family discusses improvements in the boys' health.
Cystic Fibrosis (09:29)
In 2001, ten month old Kimberly experienced severe breathing problems; she was stabilized at the ER, and diagnosed with cystic fibrosis by a specialist; she has spent much time at the hospital. The genetic disease spurs the production of mucus, coating the lung's cilia, and leading to chronic infection; a membrane protein in airway cells normally acts as an ionic channel, but a DNA mutation blocks it. Therapy research produced Kalydeco, a faulty channel fixer; Kimberly was controversially treated, and rapidly improved.
Molly's Procedure (03:55)
After waiting eleven years to participate in a clinical trial, Molly's retinas were injected with a therapeutic virus; her vision is far better and disease progression has halted. She was treated before the disease caused irreversible damage; all trial patients improved.
Drug Approval and Ethics (05:28)
Austin and Max attend and speak at a Food and Drug Administration meeting, where patients and doctors advocate for approval of the Duchenne trial drug; the panel denies, but the final decision is not yet made. CRISPR precisely changes the sequence of DNA; there are three billion letters in the human genome, editing them is challenging. The technology could be used for trait selection and athletic advantage; doctors discuss the ethical issues of potential uses.
Timeline Researchers (01:55)
After Sonya was diagnosed with brain disease, she and her husband began researching; they quit their careers, got lab work, and were accepted to Harvard Medical. Their goal is to find a cure; they are tenacious, and progress in other gene therapy fields is encouraging.
Credits: The Gene Doctors (00:30)
Credits: The Gene Doctors
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