The rare genetic disorder that causes severe itchiness and liver failure
Disease name: Progressive familial intrahepatic cholestasis (PFIC)Affected populations: PFIC is a group of rare genetic diseases that cause progressive liver failure. The exact prevalence of PFIC is unknown, but estimates suggest that these diseases affect between 1 in 100,000 and 1 in 50,000 people worldwide. In the United States, fewer than 50,000 people total are…
A child who got CAR-T cancer therapy is still disease-free 18...
Science News was founded in 1921 as an independent, nonprofit source of accurate information on the latest news of science, medicine and technology. Today, our mission remains the same: to empower people to evaluate the news and the world around them. It is published by the Society for Science, a nonprofit 501(c)(3) membership organization dedicated…
Norrie disease: The rare genetic disorder that makes people go blind...
Disease name: Norrie diseaseAffected populations: Norrie disease is an extremely rare, inherited genetic disorder that causes vision loss and was first described in Denmark in 1927. The exact incidence of Norrie disease in the population is unknown, but around 500 cases have been reported worldwide. The disease mainly affects males, and when females do develop…
‘Speech gene’ seen only in modern humans may have helped us...
Scientists have identified a gene that may have played a role in the emergence of spoken language in modern humans, or Homo sapiens.The gene, called NOVA1, carries instructions for a protein that plays a crucial role in brain development by binding to and regulating genetic material called RNA in neurons. Among other functions, RNA acts…
Scientists just rewrote our understanding of epigenetics
Scientists have uncovered a new way that cells control their genes — and it may rewrite our understanding of "epigenetics."Epigenetics is a form of DNA modification that doesn't affect the DNA sequence itself. Instead, it describes when chemical groups attach to specific genes, thus switching those genes on or off, or else changing the 3D…
Researchers look to genetics to better understand heart disease in South...
People of South Asian descent are more likely to be affected by heart disease, but their risks often go unnoticed. Researchers are looking to genetics to learn more and prevent early deaths.
Massive study of 3 million people reveals genetic ‘hotspots’ linked to...
Scientists have pinpointed nearly 300 "hotspots" in the human genome that may increase the risk of bipolar disorder.In the largest study of its kind to date, an international research team conducted a thorough analysis of DNA from almost 3 million individuals, including more than 158,000 with bipolar disorder. The DNA data was collected from people…
People with this rare genetic condition can’t repair damage to their...
Disease name: DNA ligase IV (LIG4) syndromeAffected populations: LIG4 syndrome is an extremely rare inherited condition that was first reported in the U.K. in 1990. Little is known about its exact prevalence worldwide, but as of 2020, approximately 55 cases had been described in the medical literature.Causes: LIG4 syndrome is caused by a mutation in…
Iron Age Celtic women’s social and political power just got a...
Science News was founded in 1921 as an independent, nonprofit source of accurate information on the latest news of science, medicine and technology. Today, our mission remains the same: to empower people to evaluate the news and the world around them. It is published by the Society for Science, a nonprofit 501(c)(3) membership organization dedicated…
IVF may raise risk of certain disorders in babies — and...
Assisted reproductive technologies (ART), such as in vitro fertilization (IVF), may affect the epigenetics of the placenta, slightly raising the risk of certain health impacts for babies.To date, ART has helped usher in more than 10 million successful births worldwide. These technologies are safe, but compared with unassisted births, they come with some increased risk…
