Diseases, Conditions, Syndromes
For patients with sickle cell disease, fertility care is about reproductive justice
Teonna Woolford has always wanted six kids. Why six?
Dec 13, 2022
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Page 5 - News tagged with common genetic disease
Genetics
Study demonstrates family history is not sufficient for assessing inherited disease risk
A new study from the University of Helsinki demonstrates the added value of genetic information in measuring inherited disease risk, alongside the widely used assessment of family history.
Nov 8, 2022
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Medical research
Polygenic risk scores identify high-risk individuals in European and Asian ancestry, but less so in African ancestry
An international research consortium led by the University of Helsinki has performed the largest study to date evaluating transferability of genome-wide polygenic risk scores across ancestries. Polygenic risk scores (PRS) ...
Apr 14, 2022
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Genetics
Is it time to test embryos for common diseases?
A Silicon Valley company has designed a technique to decipher the genetic code of a tiny embryo and calculate its future risk of cancer, diabetes and 10 other common diseases—presaging a day when parents could select children ...
Apr 6, 2022
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Genetics
Genetic risk scores can aid accurate diagnosis of epilepsy
Although epilepsy is a relatively common condition, affecting approximately 1% of individuals worldwide, it is often difficult to diagnose in clinical practice, and it is estimated that up to a quarter of all cases may be ...
Aug 29, 2021
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Genetics
Overlooked cilium could be genetic key to common diseases
Until recently, scientists believed that the primary cilium—an antenna-like structure found on the surface of most human cells—was largely vestigial and had little bearing on the day-to-day lives of human beings. But ...
Feb 25, 2021
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Cardiology
Genetic risk for fatal blood clots identified in IBD patients
Blood clots are the biggest cause of death in patients with inflammatory bowel disease (IBD)—ulcerative colitis or Crohn's disease. In a retrospective study recently published in the journal Gastroenterology, Cedars-Sinai ...
Nov 11, 2020
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Genetics
GTEx findings reveal genetic regulatory variation across tissues and cell types
The multi-institutional Genotype-Tissue Expression (GTEx) Consortium, in a final-phase initiative co-led by Tuuli Lappalainen, Ph.D., Core Faculty Member at the New York Genome Center, has published its final set of studies. ...
Sep 10, 2020
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Genetics
Common disease prevention and cancer screening would benefit from genomic risk assessment
Many of the most common causes of death are due to diseases whose onset could be significantly slowed down or whose prognosis could be improved by identifying with increasing accuracy individuals at high risk. In the current ...
Apr 14, 2020
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Genetics
Rare, damaging inherited mutations work together to reduce lifespan
Scientists report that the combined effects of rare, damaging mutations present at birth have a negative impact on healthspan and longevity, according to a study published this week in eLife.
Apr 9, 2020
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