Gene therapy and scientific advances offer hope for long suffering patients

Researchers are making progress on the treatment and management of rare diseases through gene therapy and experimental drugs.

Even though most of these conditions have no cure and the patients have to depend on occupational therapy, medics are looking at the possibility of using gene therapy to control rare diseases.

Gene therapy uses genes to treat or prevent disease. It is still in the experimental stage but if approved, will allow doctors to treat rare genetic diseases by inserting a gene into a patient’s cells instead of using drugs or surgery.

Some of the approaches that researchers are using include replacing a mutated gene that causes disease with a healthy copy of the gene, ‘knocking out’ a gene that is malfunctioning by making it inactive and introducing a new one so that the body can fight the disease better.

Last week, a baby in USA who had Severe Combined Immunodeficiency (SCID), a rare autoimmune disease, was reported to have been cured after a gene therapy, raising hope for patients with rare diseases.

“We removed his bone marrow and replaced some cells with ones without the faulty gene. The renewed cells were returned to his body via an intravenous injection,” said the doctor who performed the operation.

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Last year, a drug called Zolgensma was approved in the US as gene therapy for the treatment of spinal muscular astrophy in children below two years.

Even though it offers hope, there are still many challenges and ethical questions that have been raised about the use of gene therapy.

Some of the issues around the use of gene therapy is the high cost associated with it, making it an option only for the wealthy. There have also been concerns over the misuse of the therapy, including the fear that medics could use it to alter the genetic makeup of individuals; some of who may not have rare diseases.

Other than gene therapy, stem cells therapy has also been used to control conditions such as Duchenne Muscular Dystrophy (DMD). Stem cell therapy is a new technology where one’s own cells are harvested from the bone marrow, cells are then purified in a lab and good stem cells are re-injected back to one’s body to boost affected areas.

This therapy is used to manage other neurological disorders like autism, cerebral palsy, dementia, mental retardation, brain injury, spinal cord injury, stroke and other motor neurone diseases. Despite the progress, many Kenyans who suffer from these conditions can hardly access the options.

“I had to take my son to India for a stem cell therapy and we had two fundraising, including a social media appeal for us to afford it,” says John Mwiri whose son has DMD.

Dr Andrew Odhiambo says Kenya needs centres of excellence where individual diseases are handled.

“Developed countries have centres that handle specific diseases. For instance, if it is a certain type of cancer, there is one centre that does extensive research on it. We need something for specific rare diseases,” he says.

Until then, the patients can only hope. George Kiama whose daughter was diagnosed with hereditary angio edema says he was disappointed when the Universal Health Coverage did not touch on anything about rare or orphan diseases.

“It made us realise that nobody knows what we go through, or even if they do, they don’t care,” he says.

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Gene therapyRare diseasesGenetics