All articles tagged with #genetic disorders
Research shows that as men age, harmful mutations in sperm increase and are favored during sperm production, raising the risk of passing on genetic disorders like neurodevelopmental issues and cancer to offspring, due to a process called 'selfish selection.'
The US Department of Health and Human Services is significantly reducing funding for mRNA vaccine research, canceling nearly $500 million in contracts, but is still supporting mRNA therapies for cancer and genetic conditions, indicating a shift in focus from vaccines to other medical applications.
In the UK, eight babies have been born using a pioneering IVF technique called mitochondrial donation treatment (MDT), which involves DNA from three people to prevent genetic disorders passed through faulty mitochondria, marking a significant advancement in medical science and genetic disease prevention.
In the UK, a pioneering IVF technique involving mitochondrial donation has successfully resulted in the birth of eight healthy children, offering a new hope for women at risk of passing on mitochondrial genetic diseases, with ongoing monitoring and potential for wider adoption.
British scientists have successfully used a technique called mitochondrial donation to create 'three-parent' babies, helping families avoid inherited mitochondrial diseases, marking a significant milestone in genetic technology, though ethical and safety concerns remain.
Doctors in the UK have successfully used a groundbreaking IVF technique involving DNA from three people to prevent mitochondrial diseases, resulting in the birth of eight healthy babies, marking a significant advancement in reproductive medicine.
A new drug, Vykat XR, approved for Prader-Willi syndrome, offers hope for controlling extreme hunger caused by genetic factors, highlighting the complexity of obesity and the need for targeted treatments. However, federal funding cuts threaten ongoing research into obesity and rare diseases, potentially hindering future breakthroughs.
Researchers have discovered a critical early postnatal period when circulating blood stem cells can be effectively targeted with gene therapy directly in the body, opening new possibilities for treating genetic blood disorders without stem cell transplantation or chemotherapy, with promising results in mouse models and potential applicability to humans.
In 2024, significant medical breakthroughs have emerged, including the approval of Orlynvah, a novel antibiotic for resistant UTIs, and Cobenfy, a new schizophrenia drug targeting acetylcholine. A promising twice-yearly HIV prevention injection, lenacapavir, has shown over 99% effectiveness in trials. Additionally, the first treatments for Niemann-Pick disease type C have been approved, and Bayer's elinzanetant shows promise for treating hot flashes. These advancements highlight ongoing progress in combating antibiotic resistance, improving mental health treatments, and enhancing disease prevention.
A rare ghostly white angular roughshark, exhibiting leucism, was discovered off the coast of Albania, marking the first documented case of this genetic condition in the species and its family. Leucism, which affects melanin production, results in reduced pigmentation but does not impact the shark's health or survival. This discovery highlights the potential environmental pressures in Albanian waters, a region significant for endangered marine species, and underscores the need for conservation efforts.
Prime editing, an advanced form of CRISPR/Cas9 technology, has received FDA approval for its first clinical trial by Prime Medicine to treat chronic granulomatous disease (CGD). This technology, which can correct up to 89% of known genetic variants, offers precise and versatile genome editing capabilities. While promising for treating various genetic disorders, challenges remain in terms of design, delivery, safety, and high manufacturing costs.
DNA tests like AncestryDNA and 23&me are revealing the prevalence of incest in the US, with one in 7,000 children born of incest. The tests have led to shocking discoveries for individuals, uncovering uncomfortable family secrets and causing feelings of disgust, anger, and confusion. Incestuous relationships increase the risk of genetic disorders and birth defects in offspring, leading to concerns about reproduction for those affected. The disturbing truth about parentage has left many individuals traumatized and struggling with health issues, while also shedding light on the extent of this issue in the US.
Recent research challenges the long-standing understanding of the end-replication problem in DNA, revealing two distinct issues rather than one. Telomerase and the CST–Polα-primase complex are both essential for chromosome protection, addressing the leading and lagging-strand problems in DNA replication. This discovery may lead to a revision in the science of telomeres and potential impacts on genetic disorders, offering new insights into maintaining chromosome immortality.
Researchers have identified cases of trisomy 21 (Down syndrome) and trisomy 18 (Edwards syndrome) in ancient and prehistoric individuals through genetic analysis of 9,855 human genomes. The study reveals six cases of Down syndrome and one case of Edwards syndrome, with evidence of skeletal abnormalities consistent with these genetic disorders. The findings suggest that these individuals were cared for and buried with respect, indicating compassionate community attitudes towards those with genetic disorders in the past. The study highlights the potential of integrating genetic, anthropological, and archaeological data to gain insights into the prevalence and societal perceptions of genetic disorders in ancient populations.
Gene therapy using Crispr-Cas9 has shown promising results in treating hereditary angiodema, a genetic disorder causing painful and unpredictable swelling attacks. Patients treated with a single dose of the therapy showed little sign of further symptoms, with one patient experiencing only minor symptoms. The treatment has the potential to provide a permanent cure for this debilitating condition and could also be used to treat other genetic disorders. Larger trials and long-term monitoring are planned to assess the therapy's safety and efficacy.