Breast cancer survivors with excess body weight at increased risk of developing second cancer

Breast cancer survivors who are overweight have a statistically significant increased risk of developing second primary cancers, according to results from a study conducted by Kaiser Permanente researchers and published in the Journal of the National Cancer Institute. There are approximately 3.9 million breast cancer survivors in the United States today and studies have found women diagnosed with breast cancer […]

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New genetic link to male infertility found

The findings published in eLife show that men with this unstable subtype of the Y chromosome have a significantly increased risk of genomic rearrangements. These rearrangements affect the sperm production process (spermatogenesis) and consequently, these men can be up to nine times more likely to have fertility issues. Molecular diagnostics of this genetic variant could help identify those at higher […]

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New genetic link to male infertility found

The findings published in eLife show that men with this unstable subtype of the Y chromosome have a significantly increased risk of genomic rearrangements. These rearrangements affect the sperm production process (spermatogenesis) and consequently, these men can be up to nine times more likely to have fertility issues. Molecular diagnostics of this genetic variant could help identify those at higher […]

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FDA OKs First ‘Targeted Treatment’ for Rare DMD Mutation

The US Food and Drug Administration (FDA) has approved the antisense oligonucleotide casimersen (Amondys 45, Sarepta Therapeutics) injection for the treatment of patients with Duchenne muscular dystrophy (DMD) plus a rare DMD mutation, the agency has announced.  This particular mutation of the DMD gene “is amenable to exon 45 skipping,” the FDA noted in a press release. It added that […]

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What is Krabbe disease?

Krabbe disease is also known by many other names, these include Globoid cell leukodystrophy, Galactosylcerebrosidase deficiency and Galactosylceramidase deficiency. (1, 4) It is a very rare condition that is caused by a genetic defect that affects the nervous system. (2) Types of Krabbe disease There are two main types of Krabbe disease: early-onset (infantile) Krabbe disease late-onset (juvenile- or adult-onset) […]

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