Skip to main content
Premium Trial:

Request an Annual Quote

Start It Themselves

A six-year-old girl has become the first person to receive gene therapy for Sanfilippo syndrome, Today reports. Patients with Sanfilippo lack a certain enzyme and cannot break down long-chain sugars, leading to progressive worsening of mental status — Today says the condition is sometimes called 'childhood Alzheimer's disease.' It's a rare recessive disorder, affecting one in 70,000 births.

As Today reports, Eliza O'Neill has Sanfilippo type A, which is the more severe form of the disease. After she was diagnosed, her parents, Cara and Glenn O'Neill, learned of a promising gene therapy study that had been conducted in mice, but that had struggled to find funding for a trial in humans. The O'Neills raised more than $1.8 million to start a clinical trial, according to Today.

And Eliza was the first patient to take part. "Eliza's future is uncertain right now and that's a fabulous thing for a Sanfilippo parent because prior to treatment, Eliza's future was definite: suffering, degeneration, seizures, feeding tubes, wheelchairs and death," Glenn O'Neill says. "Now her future is uncertain and we think that's a great thing because of the potential."

The Scan

ChatGPT Does As Well As Humans Answering Genetics Questions, Study Finds

Researchers in the European Journal of Human Genetics had ChatGPT answer genetics-related questions, finding it was about 68 percent accurate, but sometimes gave different answers to the same question.

Sequencing Analysis Examines Gene Regulatory Networks of Honeybee Soldier, Forager Brains

Researchers in Nature Ecology & Evolution find gene regulatory network differences between soldiers and foragers, suggesting bees can take on either role.

Analysis of Ashkenazi Jewish Cohort Uncovers New Genetic Loci Linked to Alzheimer's Disease

The study in Alzheimer's & Dementia highlighted known genes, but also novel ones with biological ties to Alzheimer's disease.

Tara Pacific Expedition Project Team Finds High Diversity Within Coral Reef Microbiome

In papers appearing in Nature Communications and elsewhere, the team reports on findings from the two-year excursion examining coral reefs.