Gene Editing Research Raises Hope for Rare Inherited Disorders

The New England Journal of Medicine (NEJM), one of the world’s most established medical journals, posted details of the research this week, linking gene editing science to potential treatments for peroxisomal disorders — conditions caused by faults in tiny structures inside cells called peroxisomes, which help break down fatty acids and produce certain chemicals the body needs to function.

Peroxisomal disorders are rare and can affect the brain, liver, and kidneys. Because the body cannot process certain fats correctly, symptoms may include problems with vision, hearing, and neurological development. There are currently very limited treatment options for most of these conditions, according to NHS guidance on inherited metabolic disorders.

The NEJM article falls under the journal’s Clinical Implications of Basic Research series, which translates laboratory-level science into what it might eventually mean for patients. The piece is tagged under both genetics and gastroenterology, reflecting the wide-ranging effects these disorders can have on the body.

Gene editing refers to techniques that can alter DNA sequences — in effect, correcting or switching off faulty genetic instructions. Research in this area is ongoing, and no gene editing treatment for peroxisomal disorders is currently approved for routine NHS use.

For Kent residents living with rare or inherited conditions, the NHS Genomics Medicine Service offers specialist support through regional hubs. Anyone concerned about symptoms or a family history of inherited metabolic conditions should speak to their GP in the first instance, or call NHS 111 for guidance.

Key information

• GP referral: Ask your GP about referral to a metabolic or genetics specialist if you have concerns about an inherited condition
• NHS 111: Call 111 for non-emergency health advice, available 24 hours a day
• Rare Disease UK: A patient organisation supporting people affected by rare conditions across the UK