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We often focus on covering the innovation side of the biotech industry – we describe how promising investigational drugs work, what trends shape the biotech industry, and the companies within it. But we sometimes forget about the patients these drugs are made for. As today is Christmas Day, and it’s all about sharing some quality time with your loved ones, let’s focus on why biotech is important: the patients.
Taking a step back from the industry and the mechanisms behind the drugs, looking at the broader picture might be where we clearly see the meaning of it all – allowing people with debilitating conditions to have a second chance at a normal life. Biotech can make the blind see or the deaf hear, and I don’t think any other industry can have this kind of impact on people’s lives.
On this special day, we take a look at the presents biotech has made to patients – perhaps it will make you believe in Christmas miracles.
Table of contents
Biotech Christmas miracle #1: Opal’s journey from deafness to hearing
Born with auditory neuropathy – a rare genetic condition disrupting nerve signals from the inner ear to the brain – Opal Sandy faced a silent world from birth. This condition often stems from mutations in the OTOF gene, which encodes otoferlin, a protein essential for transmitting auditory information. Without functional otoferlin, inner ear hair cells cannot effectively communicate with auditory nerve fibers, leading to hearing impairment.
In a clinical trial at Addenbrooke’s Hospital in Cambridge that started in May 2023, doctors introduced a functional copy of the OTOF gene directly into Opal’s cochlea using an adeno-associated virus (AAV) vector. This DB-OTO gene therapy aimed to restore the production of otoferlin, thereby re-establishing the critical communication between hair cells and the auditory nerve.
Remarkably, within four weeks of receiving the infusion, Opal began responding to sounds even when her cochlear implant was switched off. At 24 weeks post-treatment, her hearing levels for soft sounds, such as whispers, were close to normal. A year later, at 18 months old, Opal could hear her parents’ voices and started to speak words.
Children with a variation in the OTOF gene, like Opal, usually pass the newborn screening, and the condition goes unnoticed. It’s usually around age 2 or 3 that hearing loss can be detected when there is a delay in speech. In the case of Opal, she was identified as being at risk as a sister suffers from the same condition. The genetic test confirmed the mutation which made her the perfect candidate for the gene therapy trial.
Professor Manohar Bance, chief investigator of the trial said in a University of Cambridge paper “More than sixty years after the cochlear implant was first invented – the standard of care treatment for patients with OTOF-related hearing loss – this trial shows gene therapy could provide a future alternative. It marks a new era in the treatment for deafness.”
Allowing deaf children to hear, speak, and listen to music – if that is not a miracle, I don’t know what is.
Biotech Christmas miracle #2:Restoring vision for Hannah and Tyler
Advancements in gene therapy have ushered in transformative treatments for inherited retinal diseases, offering hope to individuals like Hannah and Tyler, whose lives have been profoundly impacted by these innovations.
Seven-year-old Hannah Leber was diagnosed as a baby with Leber congenital amaurosis (LCA), a rare genetic disorder leading to severe vision impairment or blindness from birth. LCA is often caused by mutations in the RPE65 gene, which is crucial for the visual cycle. These mutations disrupt the conversion of light into electrical signals in the retina, resulting in vision loss. People with LCA usually become completely blind at around 20 to 30 years old.
In 2017, Hannah received the gene therapy Luxturna at the Children’s Hospital of Philadelphia (CHOP). The treatment involved delivering a functional copy of the RPE65 gene directly into her retinal cells using an AAV vector. This intervention restored the normal visual cycle, enabling Hannah to perceive light and images. Hannah isn’t the only one who suddenly gained vision thanks to biotech.
Tyler Wilfong, a resident of Lincolnton, North Carolina, was born with retinitis pigmentosa (RP), a progressive genetic disorder that causes the breakdown of retinal cells, leading to gradual vision loss. RP often results from mutations in various genes essential for retinal function, causing degeneration of photoreceptor cells. By the age of 23, Tyler lost his driver’s license because of his impaired vision and he was ultimately facing total blindness.
Tyler participated in a clinical trial at the Duke Eye Center. The treatment involved injecting an AAV vector carrying a healthy copy of the defective gene into his eye. Remarkably, within days of the procedure, Tyler experienced improved vision, allowing him to see his newborn son for the first time.
Like the treatment Opal received, both treatments utilize AAV vectors to deliver functional genes to retinal cells. AAV vectors are engineered to be non-pathogenic and can efficiently target retinal cells with minimal immune response. Once administered, the vectors introduce the healthy gene into the host cells, enabling the production of essential proteins that were previously deficient due to genetic mutations.
These therapies exemplify the potential of gene therapy to correct genetic defects at their source, offering lasting solutions for conditions that were once deemed untreatable. Thanks to those, Hannah and Tyler can now see. Biotechnology with personalized medical care can bring light into lives that had been overshadowed by genetic blindness.
Biotech Christmas miracle #3:Healing Emily’s brain
The fight against cancer is still one of the biggest biotech is facing. Thankfully, technological advancements have led to new treatments and approaches that have already successfully defeated cancers of patients with poor prognoses.
At five years old, Emily Cooke was diagnosed with ganglioglioma of the brain stem, a rare and challenging form of brain cancer. Traditional treatments had limited success, prompting her medical team to explore alternative options. They turned to trametinib, a drug initially developed to treat melanoma.
This targeted therapy inhibits MEK1 and MEK2, proteins that play a crucial role in the MAPK/ERK signaling pathway. By blocking this pathway, trametinib can reduce tumor cell proliferation and induce apoptosis, effectively controlling tumor growth in cancers driven by mutations in this pathway.
Administering trametinib to Emily aimed to disrupt the aberrant signaling pathways driving her tumor’s growth. Remarkably, this approach led to significant tumor reduction and clinical improvement, offering Emily and her family renewed hope for the future. Her case is a good example of the potential of repurposing existing drugs to treat different cancer types, especially in pediatric patients with limited treatment options.
Professor Richard Scolyer, a melanoma pathologist, also faced a personal health crisis when diagnosed with stage 4 glioblastoma, an aggressive brain tumor with a poor prognosis. Leveraging his expertise, he became the first patient to undergo a novel treatment combining neoadjuvant immunotherapy – administering immune checkpoint inhibitors before surgery – to enhance the body’s immune response against the tumor.
This approach, previously successful in melanoma, aimed to shrink the tumor preoperatively, making surgical removal more effective and reducing the likelihood of recurrence. Administering immune checkpoint inhibitors before surgery can prime the immune system to recognize and attack tumor cells more effectively. This strategy may lead to tumor shrinkage, facilitate complete surgical resection, and potentially decrease the risk of metastasis and recurrence.
One year post-treatment, Professor Scolyer remains cancer-free, demonstrating the potential of adapting immunotherapy strategies across different cancer types.
Biotech, an industry with long but worthwhile timelines
Biotech is an industry where you have to be patient, with the full journey from drug discovery to approval usually taking over 10 years if the drug ends up being approved at all. These long timelines can sometimes make you lose sight of the ultimate goal, making a difference in patients’ lives.
Recent years have allowed us to witness significant progress and conditions and diseases once thought to be untreatable have actually been cured in some cases. Giving sight to a blind patient or hearing to a child who would end up deaf in the future aren’t the only examples. Gene therapy is perhaps one of the most impressive examples of the wonders biotech can accomplish – we could have shared stories about the progress it has made in spinal muscular atrophy (SMA), or how CRISPR gene editing now allows the correction of sickle cell disease patients’ genes to achieve normal hemoglobin levels.
Beyond human health, biotech can make miracles happen in biodiversity. Believe it or not, one of my family’s Christmas movies is Jurassic Park – don’t ask me why, it doesn’t make sense to me either, I just sit and watch it with a cup of hot chocolate every year. Well a modern biotech, Colossal Bioscience, is confident it’s going to bring extinct species back to life – not dinosaurs but the woolly mammoth. If you ask me, that is still a miracle.
The industry is making progress every day, diseases that biotech managed to make more manageable or to slow down yesterday could be cured tomorrow. For instance, we are discovering new approaches to Alzheimer’s disease giving us hope that one day biotech could also allow us to recover precious memories or prevent patients from losing them. If this seems like a long shot today, we could have said the same for inherited blindness 50 years ago.
Biotech is an exciting and important industry and in the end, its goal is to allow patients to experience life to the fullest – enjoying Christmas with their family without a care in the world, for instance.
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