BioNews

Autosomal recessive inheritance

A pattern of inheritance in which a mutation must be present in both copies of a gene in order to cause an observable disorder or trait, for example the mutation that causes cystic fibrosis.

Also known simply as recessive inheritance.

32 articles

Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the sequencing output from an automated DNA sequencing machine.

News

20 July 2026 • 3 minutes read

SMA newborn screening to be trialled across England

by Iona Aylwin

Spinal muscular atrophy screening will be rolled out to every newborn in England by October 2027, the UK Department of Health has announced...

Comment

29 June 2026 • 6 minutes read

Expanded carrier screening: Reflections on new guidance

by Dr Kriss Fearon and 2 others

The British Fertility Society has issued new guidance which provides direction on genetic testing in gamete donation in the UK...

Comment

15 June 2026 • 5 minutes read

Grief, genetics and the IVF funding gap

by David Greger and 1 others

After losing two daughters to a rare inherited genetic condition, David and Juliette discuss what they believe is a gap in NHS IVF policy, sharing their family's story to raise awareness and help others who are facing similar challenges...

Image by Matthew Daniels via the Wellcome Collection. Depicts human cells showing the stages of cell division (starting with interphase at the top and progressing anticlockwise, the stages shown are prophase, prometaphase, metaphase, early anaphase, anaphase and telophase).

News

16 February 2026 • 2 minutes read

Topical CRISPR‑based therapy shows promise for treating skin disorders

by Dr Olivia Goff

A topical CRISPR-based genome-editing therapy has been developed to address disease-causing mutations responsible for inherited human skin disorders...

Comment

22 December 2025 • 8 minutes read

Expanded Carrier Screening: How Is It Used? What Are the Ethical Implications?

by Jen Willows

The first session of 'What Does Genomics Mean for Fertility Treatment?' – the 2025 Annual Conference of PET – explored the growing use of expanded carrier screening...

Comment

22 December 2025 • 8 minutes read

Donor Conception and Genomics: Sperm, Eggs, Embryos, Mitochondria

by Éilis Mathur

The fifth session of 'What Does Genomics Mean for Fertility Treatment?' – the 2025 Annual Conference of PET – brought together clinical, scientific and ethical perspectives on the relationship between genomics and donor conception...

News

14 July 2025 • 3 minutes read

Gene therapy improves hearing in deaf patients within weeks

by Vanessa Burns

A gene therapy for inherited deafness has safely and rapidly improved hearing in patients ranging from early childhood to adulthood...

Reviews

16 June 2025 • 5 minutes read

Event Review: BSGM Lunch and Learn – Preconception carrier screening

by Nina O'Toole

This event, hosted by the British Society for Genetic Medicine, featured two talks by clinical experts on preconception carrier screening followed by an opportunity for questions...

News

30 September 2024 • 2 minutes read

Most recessive developmental disorders linked to known gene variants

by Dr Anna Wernick

Most inherited developmental disorders are caused by previously identified genetic variants, according to the largest and most diverse study to date...

Image by Bill Sanderson via the Wellcome Collection, © Wellcome Trust Ltd 1997. Depicts the gyri of the Thinker's brain as a maze of choices in biomedical ethics (based on the sculpture 'The Thinker' by Auguste Rodin).

Comment

25 March 2024 • 5 minutes read

The ethics of preimplantation genetic testing using polygenic scores

by Dr Helena Carley and 4 others

Academics from Oxford University discuss the ethics surrounding preimplantation genetic screening tests, including the use of polygenic risk scores...

BioNews

Autosomal recessive inheritance

SMA newborn screening to be trialled across England

Expanded carrier screening: Reflections on new guidance

Grief, genetics and the IVF funding gap

Topical CRISPR‑based therapy shows promise for treating skin disorders

Expanded Carrier Screening: How Is It Used? What Are the Ethical Implications?

Donor Conception and Genomics: Sperm, Eggs, Embryos, Mitochondria

Gene therapy improves hearing in deaf patients within weeks

Event Review: BSGM Lunch and Learn – Preconception carrier screening

Most recessive developmental disorders linked to known gene variants

The ethics of preimplantation genetic testing using polygenic scores

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