Fanconi anemia is a rare and aggressive genetic disorder that affects bone marrow function and increases cancer risk. Despite advances in treatment, many individuals with this condition do not survive into adulthood without bone marrow transplantation and regular cancer screening. However, a recent study has identified a new gene, FANCX, which plays a critical role in the Fanconi anemia pathway. This discovery sheds light on the severity of Fanconi anemia caused by mutations in FANCX.

Researchers from Rockefeller University’s Laboratory of Genome Maintenance, led by Agata Smogorzewska, have been studying the Fanconi anemia pathway and its associated genes for years. They discovered that FANCX is a previously unknown gene involved in this pathway, and its mutations result in a more severe form of Fanconi anemia.

The researchers began to suspect that Fanconi anemia patients hadn’t presented with FANCX mutations until now because these mutations are so severe. Without the protein produced by FANCX, it’s unlikely that a fetus will survive. Smogorzewska and her team started looking for FANCX mutations in families with multiple miscarriages, which led to the identification of several cases.

The findings of this study have significant implications for families affected by Fanconi anemia. With the help of Kasturba Medical College in India, the researchers identified a second family with two miscarriages, and studies revealed that the mutant protein from that family lacked normal function. This discovery may soon enable clinicians to screen for FANCX mutations during IVF, selecting only healthy embryos for implantation.

The study’s lead author, Agata Smogorzewska, emphasizes the importance of collaboration in rare disease research. She highlights the role of the Fanconi Cancer Foundation in facilitating research and coordinating publications with other researchers. The foundation makes a significant contribution to the advancement of knowledge in this area, allowing families, patients, clinicians, and researchers to collaborate and compete.

The discovery of FANCX as a new Fanconi anemia gene has far-reaching implications for our understanding of this condition and its management. It may soon be possible to help families that carry these mutations prevent Fanconi anemia in future pregnancies by screening for FANCX mutations during IVF. The researchers now know what they’re looking for, which brings hope to those affected by this rare and aggressive genetic disorder.

In a groundbreaking study led by Irish researchers, scientists have uncovered how a lipid-rich fluid in the abdomen, known as ascites, contributes to immune failure in advanced ovarian cancer. The findings shed new light on immune suppression in ovarian cancer and pave the way for innovative immunotherapy approaches.

According to the research, more than 70% of patients with ovarian cancer are diagnosed at an advanced stage, often accompanied by significant volumes of ascites fluid. This fluid not only supports the spread of cancer throughout the abdominal cavity but also severely impairs the body’s immune defenses. Understanding how ascites affects the immune system is crucial for developing better treatments that harness the power of the immune system to combat cancer.

Researchers from Trinity College Dublin and University College Dublin explored how ascites disrupts immune cell function, focusing on natural killer (NK) cells and T cells, key players in eliminating tumors. By analyzing the contents of ascites fluid from ovarian cancer patients, the team identified a group of fat molecules called phospholipids as primary drivers of this immune dysfunction.

Dr. Karen Slattery, Research Fellow at the Trinity Translational Medicine Institute, is the first author of the research article published in Science Immunology. She stated: “We discovered that these lipids interfere with NK cell metabolism and suppress their ability to kill cancer cells. Crucially, we found that blocking the uptake of these phospholipids into NK cells using a specific receptor blocker can restore their anti-tumour activity, which offers a compelling new target for therapeutic intervention.”

Prof. Lydia Lynch, formerly based in Trinity and now at Princeton University, is the senior author of the research article. She emphasized: “This study marks a significant advancement in ovarian cancer research, identifying a new mechanism underpinning immune failure and laying the foundation for new therapies that could restore immune function in these patients. By targeting the fat-induced suppression of immune cells, future treatments could empower the body’s own immune defenses to fight back and improve outcomes for ovarian cancer patients.”

Pregnant women who suffer from metabolic dysfunction-associated steatotic liver disease (MASLD), previously known as non-alcoholic fatty liver disease, are more likely to give birth prematurely. A new study published in the journal eClinicalMedicine has found that these women have a significantly higher risk of preterm birth, and this increased risk cannot be attributed solely to their weight or obesity.

According to the research conducted by Karolinska Institutet, one in five people in Sweden may have MASLD, while globally, it could affect as many as three out of ten individuals. Common risk factors for developing the disease include metabolic disorders like type 2 diabetes and being overweight or obese. The study’s findings are based on Swedish registry data and included a total of 240 births among women with MASLD, along with 1140 matched births from the general population.

Alarmingly, the research revealed that women with MASLD were more than three times as likely to give birth prematurely compared to those without the disease. This increased risk persisted even after adjusting for factors such as weight and metabolic disorders. The study’s lead author suggests that this association may not solely be due to a high BMI, implying that the liver disease itself could have negative effects on pregnancy outcomes.

Moreover, women with MASLD had a 63 percent higher risk of caesarean section compared to the control group. However, this increased risk seemed to be explained by their high BMI, as no significant difference was observed when comparing them to overweight or obese women without fatty liver disease.

While the study’s findings are concerning, it is essential to note that MASLD itself did not increase the risk of congenital malformations in the children born to these women. The authors acknowledge that their research may have been influenced by other factors and emphasize the importance of closely monitoring pregnant women with MASLD to reduce the risk of complications.

The study’s conclusions highlight the need for specific recommendations regarding pregnancy care for women with MASLD, which could potentially be added to clinical guidelines for managing the disease.