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2 months ago | 
progress.org.uk | lynne smit |Anna Wernick
Low levels of anti-Müllerian hormone (AMH) decrease the chances of becoming pregnant, independently of age or duration of time spent trying to conceive. Although at-home fertility tests have soared in popularity, their reliance on AMH levels as an accurate fertility indicator has been debated in the literature.
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Dec 9, 2024 | 
progress.org.uk | lynne smit |Anna Wernick
A blood test that screens for fetal disorders during pregnancy also accurately signposts cancers in unsuspecting mothers-to-be. A small study led by the National Institute of Health in Maryland, investigated pregnant and postpartum women who had received unusual cell-free DNA (cfDNA) results during their pregnancy but had fetal abnormalities ruled out. Despite none of the women outwardly displaying any signs, nearly half of the women were diagnosed with cancer.
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Sep 30, 2024 | 
progress.org.uk | Joanne Delange |Anna Wernick
Most inherited developmental disorders are caused by previously identified genetic variants, according to the largest and most diverse study to date. Using newer techniques, researchers at the Wellcome Sanger Institute, near Cambridge, and GeneDx, Maryland, reanalysed genetic data from almost 30,000 families affected by autosomal recessive developmental disorders (ARDD) to better understand their genetic causes.
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Aug 19, 2024 | 
progress.org.uk | Joanne Delange |Anna Wernick
Bending and stretching stem cells can tell them what cell type to become, according to Canadian researchers. Stem cells replicate and develop into other types of cells in the body, making them useful research tools and potential treatments for diseases of cell loss – like Alzheimer's and Type 1 diabetes.
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Jul 22, 2024 | 
biorxiv.org | Jenny Hällqvist |Christina E. Toomey |Rui Pinto |Anna Wernick
AbstractParkinson's Disease (PD) is an increasingly prevalent condition within the aging population. PD can be attributed to rare genetic mutations, but most cases are sporadic where the gene-environment interactions are unknown/likely contributory.
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Jul 15, 2024 | 
progress.org.uk | Hannah Flynn |Anna Wernick
Fertility-sparing surgery for cervical cancer, without hysterectomy, may have similar outcomes to more radical surgery in women with small tumours. At present, women with stage I cervical cancers with tumours over two centimetres are advised to undergo standard surgery. This involves the removal of the womb, known as a hysterectomy.
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Apr 15, 2024 | 
progress.org.uk | Joanne Delange |Anna Wernick
A novel genetic variant reduces the risk of Alzheimer's disease by up to 70 percent in people who are predisposed. Researchers at Columbia University in New York investigated the genomes of healthy people with an Alzheimer's-associated gene to see if they carried another genetic variant that protected them. They discovered that many of these unaffected individuals carried a variant in the FN1 gene which allows the toxic Alzheimer's protein, amyloid, to filter out of the brain into the blood.
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Mar 4, 2024 | 
progress.org.uk | Joanne Delange |Anna Wernick
Researchers have unravelled how mutations in a single gene can cause abnormal brain development in fetuses and babies. Although scientists had previously discovered the link between mutations in the gene that codes for a protein called Trabid and microcephaly, it was unknown how these mutations caused the developmental disorder. An Australian research team in Parkville, Victoria, discovered the mechanism underpinning how these mutations affect neuronal development.
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Oct 2, 2023 | 
progress.org.uk | Joanne Delange |Anna Wernick
Common diseases, such as type 2 diabetes and post-traumatic stress disorder (PTSD), are more prevalent in people with closely related parents, a new study has shown. Scientists at the Wellcome Sanger Institute, Cambridge, and Queen Mary University, London, have developed a new research method to analyse genetic data for the degree of relatedness and risk of disease.
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Sep 4, 2023 | 
progress.org.uk | Joanne Delange |Anna Wernick
A novel mutation is present in 39 percent of Parkinson's disease patients of African heritage, but is virtually absent in those of European descent, a global genome wide association study has found. The international collaboration comprised scientists from the University of Lagos in Nigeria, University College London, and the US National Institutes of Health (NIH) in Bethesda, Maryland.
