Genome
Episodes
Dr. George Church discusses revolutionary technologies in the field of genetic engineering.
In this clip, Dr. David Sinclair describes how epigenomic modifications can influence how an organism ages, potentially reversing years of age-related damage.
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Dr. George Church discusses revolutionary technologies in the field of genetic engineering.
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In this clip, Dr. David Sinclair describes how epigenomic modifications can influence how an organism ages, potentially reversing years of age-related damage.
Topic Pages
News & Publications
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Exposure to benzyl butyl phthalate, a common plastic additive in everyday items, was found to cause extensive reproductive cell disruption and DNA damage. journals.plos.org
The risks of everyday plastics may go beyond environmental concerns, affecting our reproductive health on a cellular level. Benzyl butyl phthalate (BBP), a common plastic additive found in toys, cleaning products, food packaging, and cosmetics, has been linked to reproductive and developmental impairments. A recent study in worms found that BPP induced abnormalities in chromosome segregation and increased cell death in reproductive cells.
Researchers exposed C. elegans, a type of roundworm, to four different concentrations of BBP: 1, 10, 100, and 500 micromolar. Then, they measured the chemical’s effects on the worms' chromosomes and cell structure while tracking its metabolism into two primary byproducts: monobutyl phthalate and monobenzyl phthalate.
They found that exposure to 10 micromolar BBP induced considerable cellular disruption, increasing germ cell apoptosis, abnormalities in chromosome structure, and elevated levels of DNA damage throughout the reproductive tissues. The compound also triggered increased oxidative stress and affected critical genes involved in cell cycle progression and oxidative metabolism.
These findings suggest that BBP exposure profoundly affects reproductive health by impairing the cellular processes necessary for healthy chromosome segregation and genomic stability. A person’s phthalate burden may contribute to poor metabolic function, inflammation, and cognitive dysfunction. Learn how sauna use induces substantial sweat losses, promoting the excretion of toxic compounds like BBP.
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Gene therapy for thalassemia ends need for transfusions in young children www.sciencedaily.com
Gene therapy treats transfusion-dependent beta-thalassemia.
Gene therapy is a technique that modifies a person’s genes to prevent, treat, or cure a disease. Gene therapies work by a variety of mechanisms, including replacing a disease-causing gene with a healthy version of the gene, inactivating a disease-causing gene, or introducing a new or modified gene or genes into the body. Findings from a phase 3 clinical trial suggest that beti-cel gene therapy successfully treats transfusion-dependent beta-thalassemia.
Beti-cel is a gene therapy that works by adding a modified form of the beta-globin gene into a recipient’s own blood cell-producing stem cells. This process relies on transduction, the process by which foreign DNA is introduced into a cell by a virus or viral vector. Beti-cel therapy is designed to facilitate the production of normal, healthy hemoglobin and obviate the need for transfusions.
Thalassemia is a class of inherited blood disorders that affect the genes for hemoglobin, the oxygen-carrying component of the red blood cells. Hemoglobin, which consists of two proteins (alpha and beta) becomes incorporated into red blood cells during their maturation. Insufficient production of either the alpha or beta proteins due to genetic defect impairs oxygen transport via the red blood cells, inducing anemia and often necessitating blood transfusions.
The study involved 22 people (ages 4 to 34 years) with transfusion-dependent beta-thalassemia. Prior to receiving the gene therapy, each of the participants underwent chemotherapy to temporarily halt their red blood cell production. The investigators administered beti-cel intravenously and monitored the recipients for an average of 30 months.
They found that 20 of the 22 participants, including six who were under the age of 12 years, no longer required blood transfusions after receiving the gene therapy, typically within one month of administration. Four of the participants experienced adverse events related to the gene therapy, but most events were mild except for one event in which the participant developed thrombocytopenia, a condition in which blood platelet levels are too low.
These findings suggest that beti-cel gene therapy successfully treats transfusion-dependent beta-thalassemia and opens the door for more gene therapy strategies and applications in the future. Learn more about gene therapy in this episode featuring world-renowned geneticist Dr. George Church.
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Chimerism is a condition in which a person’s body contains two different sets of DNA. It can occur in fraternal twins and as a consequence of bone marrow transplantation. A recent news article describes a unique case of chimerism that could have implications for forensic scientists.
Three months after a man received a bone marrow transplant to treat his acute myeloid leukemia, some tissue samples from his body contained two sets of DNA: his own, and that of the donor. Other tissues had only the recipient’s DNA. Remarkably, the changes in the man’s DNA persisted for several years, and now, some four years after the bone marrow transplant, the DNA in his semen is exclusively that of the donor.
This case could have serious implications for the field of forensic science, especially when investigating sex crimes. For example, if an individual developed chimerism following a bone marrow transplant and then went on to commit a crime, it could mislead forensic investigators.
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A meta-analysis of genome-wide association studies identifies multiple longevity genes www.nature.com
we perform two meta-analyses of GWA studies of a rigorous longevity phenotype definition including 11,262/3484 cases surviving at or beyond the age corresponding to the 90th/99th survival percentile, respectively, and 25,483 controls whose age at death or at last contact was at or below the age corresponding to the 60th survival percentile. Consistent with previous reports, rs429358 (apolipoprotein E (ApoE) ε4) is associated with lower odds of surviving to the 90th and 99th percentile age, while rs7412 (ApoE ε2) shows the opposite. Moreover, rs7676745, located near GPR78, associates with lower odds of surviving to the 90th percentile age. Gene-level association analysis reveals a role for tissue-specific expression of multiple genes in longevity. Finally, genetic correlation of the longevity GWA results with that of several disease-related phenotypes points to a shared genetic architecture between health and longevity.
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Summary Investigators have long suspected that pathogenic microbes might contribute to the onset and progression of Alzheimer’s disease (AD) although definitive evidence has not been presented. Whether such findings represent a causal contribution, or reflect opportunistic passengers of neurodegeneration, is also difficult to resolve. We constructed multiscale networks of the late-onset AD-associated virome, integrating genomic, transcriptomic, proteomic, and histopathological data across four brain regions from human post-mortem tissue. We observed increased human herpesvirus 6A (HHV-6A) and human herpesvirus 7 (HHV-7) from subjects with AD compared with controls. These results were replicated in two additional, independent and geographically dispersed cohorts. We observed regulatory relationships linking viral abundance and modulators of APP metabolism, including induction of APBB2, APPBP2, BIN1, BACE1, CLU, PICALM, and PSEN1 by HHV-6A. This study elucidates networks linking molecular, clinical, and neuropathological features with viral activity and is consistent with viral activity constituting a general feature of AD.