Articles tagged with Heredity
ALS is now believed to be a protein aggregation disease, with copper-containing proteins playing a critical role in its development. The research found that SOD1 mutations cause the protein structure to destabilize, leading to increased motion and aggregation.
Researchers have resolved the crystal structure of sulfamidase, a key enzyme in Sanfilippo A syndrome. The discovery provides insights into the molecular consequences of genetic mutations and will aid in developing novel therapeutic molecules to manage the devastating disease.
A study published in Neural Regeneration Research found that genetic diagnosis is crucial in ruling out Huntington's chorea. The analysis incorporated clinical symptoms, imaging examinations, and gene diagnosis, suggesting that a combination of these factors is necessary for an accurate diagnosis.
John J. O'Shea has made groundbreaking discoveries related to cytokine signaling and primary immunodeficiencies, earning him the Ross Prize in Molecular Medicine. The award recognizes his innovative research that bridges basic science and clinical practice.
A new study by UT Southwestern Medical Center found that people with an inherited mutated gene have a high chance of getting lung cancer, even without smoking. Women and those who have never smoked are mostly affected, with a one-in-three chance of developing the disease.
A study of whole-genome sequencing (WGS) found it can aid clinical diagnosis and reveal genetic bases of rare diseases, but also raises questions about reproducibility and reportable findings. Comprehensive interpretation and reporting of clinically significant findings are seldom performed.
Researchers used preimplantation genetic diagnosis (PGD) to identify mutation-free embryos and conceive healthy twins after a woman was diagnosed with a fatal genetic disorder. The treatment allowed for selective implantation of two mutation-free embryos, resulting in the birth of healthy twins.
A study by Ludwig Cancer Research uncovers a genomic phenomenon that explains why genetically identical animals are different in their biology and appearance. Single cell analysis reveals that one allele is expressed in between 12-24% of all pairs, with random switching throughout life.
A team of researchers at University of Illinois used DNA analysis to clarify the details of the Battle of Raphia, a historic battle between Asian and African elephants. The study found that the Eritrean elephants were actually savanna elephants with low genetic diversity, which is expected for such a small population.
A study by St. Jude Children's Research Hospital finds that an inherited gene variation in the GATA3 gene is tied to a nearly four-fold increased risk of developing high-risk pediatric leukemia and a greater risk of relapse, particularly among Hispanic Americans.
Research reveals an inherited genetic defect in the interleukin-10 (IL-10) pathway is associated with a higher risk of developing certain types of blood cancer, such as diffuse large B-cell lymphoma, in infants and children. The study suggests that chronic intestinal inflammation may play a role in cancer development.
A recent study found that inherited human herpesvirus 6 in telomeres can lead to unstable viral genomes and increased risk of reactivation. This research has significant implications for transplant patients who are often immunosuppressed, highlighting the need for screening donors for this inherited form of HHV-6.
A study found that emerging lethal fungus infection can easily pass its deadly genes to closely related fungal strains but less readily to distantly related ones. This understanding will help predict the spread of outbreaks and inform surveillance efforts.
Researchers found that foster parents have a greater influence on the personalities of fostered offspring than genes inherited from birth parents. In zebra finches, personality traits can be transmitted through behaviour rather than just genetics. This study raises questions about the inheritance of personality in other species.
A study by Margarita Teran-Garcia found that Mexican young adults are at a higher risk of obesity due to the FTO gene, leading to increased BMI and waist circumference. Adopting healthy habits such as a balanced diet and regular exercise can help mitigate this risk.
A nationwide study reveals that heredity plays a significant role in common forms of atherosclerotic disease, with risk highest for individuals with family history. The study found a strong correlation between early-onset aortic atherosclerosis and increased risk of developing the same type of disease.
A recent study published in Science Translational Medicine has identified a genetic mutation that makes people more susceptible to migraine headaches. This finding is significant because it represents the first demonstration of a genetic cause for migraines, which could lead to new research avenues and potential treatments.
A new study has found that many individuals with a clinical diagnosis of Familial Hypercholesterolaemia (FH) may inherit small-effect changes in multiple genes, rather than a single gene mutation. This could lead to cost savings and more targeted treatment for patients.
Researchers identified several inherited mutations in genes linked to severe syndromes that also cause autism, including AMT, PEX7, and SYNE1. These milder mutations seemed to cause brain-specific disease, offering new insights into the genetic causes of autism.
A study from University College London found that genetic differences significantly associate with managerial responsibilities, with a specific DNA sequence linked to leadership ability passing down through generations.
Researchers identified a possible hereditary mechanism for childhood leukemia, linking a genetic defect in sex cells to the disease. The study found that atypical forms of the PRDM9 gene variant increase children's risk of developing acute lymphoblastic leukemia.
A genetic study has found that Sumatran orangutans have undergone a substantial recent population decline due to deforestation. However, the research also identified critical corridors for dispersal migrations that can help maintain genetic diversity and aid in the species' conservation if protected.
A 33-year follow-up study found that men diagnosed with ADHD as children had 2.5 fewer years of schooling, lower occupational attainment, and poorer socioeconomic status. They also experienced more divorces, substance use disorders, and psychiatric hospitalizations compared to their counterparts without childhood ADHD.
A new study published in Molecular Autism found that common genetic variations can add up to increase the risk of autism spectrum disorder. The research, which analyzed data from over one million participants, suggests that inherited risk is additive and can significantly impact an individual's likelihood of developing ASD.
A study found that variations in the APOL1 gene are associated with non-diabetic kidney disease in African-Americans, but not all carriers develop the disease. Researchers suggest that environmental or viral infections may play a role in triggering the disease.
A recent study published in The Lancet found that up to 55% of cases of severe intellectual disability are caused by new, non-inherited genetic mutations. This discovery suggests a low risk of passing on the disorder to further children and highlights the potential for whole-genome sequencing as a diagnostic tool.
The Johns Hopkins Center for Inherited Disease Research has received $101 million in research funding from the National Institutes of Health. The center, part of the McKusick-Nathans Institute of Genetic Medicine, will support the genetics community in finding genes that contribute to disease through DNA genotyping and sequencing.
Scientists from Max Planck Institute discover pod corn's unique trait is caused by a damaged transcription factor controlling glume growth. The mutated gene leads to glumes resembling leaf sheaths and kernels covered in fine membranous husks.
A new study from Washington University School of Medicine found that the genetic reach of autism extends to half siblings, suggesting a central role for genetic mechanisms in transmission. The researchers analyzed over 5,000 families with a child diagnosed with autism and found that half siblings were at higher risk than full siblings.
Scientists at the University of Florida's Center for NeuroGenetics are studying a new idea that challenges traditional views on how proteins are made in cells and their impact on genetic diseases. The team aims to understand how repetitive DNA sequences can lead to disease-causing mutations without the usual protein expression signals.
Researchers have discovered that mutations in the MCM4 gene are responsible for a complex inherited condition affecting adrenal glands, growth, and immune cells in the Irish Traveller community. The findings provide deep insight into DNA replication and genomic instability, potentially increasing cancer risk.
Researchers have solved the long-standing mystery of Garrod's fourth inborn error of metabolism by identifying two different DCXR mutations linked to pentosuria in Ashkenazi Jews. This discovery sheds light on historical and geographical patterns of human genetic mutations, providing a new understanding of the condition.
Researchers identify EIF4G1 gene mutation that leads to death of brain cells, resulting in Parkinson's disease and related neurodegenerative disorders. The study offers insights into how the gene controls protein levels to cope with biological stress.
Researchers studying mutant fruit flies with dNab2 mutations have found a link to intellectual disability (ID) in humans, particularly those affected by ZC3H14 gene mutations. The study suggests that the protein's role in regulating RNA length may be critical for brain cell function and learning.
A new guide recommends when and how genetic testing is useful for inherited cardiac conditions, aiming to lower the risk of sudden cardiac death. The guidance focuses on 13 inherited conditions, including cardiomyopathy and long QT syndrome, and provides recommendations for their diagnosis and treatment.
Dr. Stephen T. Warren, a world-renowned fragile X syndrome researcher, received the 2011 Lifetime Achievement Award in Genetics from the March of Dimes. His groundbreaking work identified the genetic abnormality responsible for this disorder and led to significant contributions to clinical settings.
Holger Puchta aims to control inheritance in plants to improve crop properties using nature's existing gene pool and cutting-edge techniques like genome sequencing and DNA scissors. The ERC grant will support his five-year project.
UT researcher Francisco Úbeda and Andy Gardner found that genomic imprinting affects children's behavior, with paternal genes promoting altruism and maternal genes encouraging self-interest. This discovery has implications for understanding neurological disorders like autism and psychosis.
A new study found that physical activity can reduce the genetic predisposition to obesity by 40% in individuals with a higher genetic risk. The research, published in PLOS Medicine, suggests that even people at greater genetic risk of obesity can benefit from adopting a healthy lifestyle.
A team of researchers discovered a chromosomal abnormality in chromosome 17 region associated with clubfoot, a genetic cause for the condition. The study found that 6% of familial clubfoot cases had a duplication in this region, which may help predict treatment response and identify patients at risk of hip abnormalities.
A new gene has been discovered that explains variability in symptoms of Usher syndrome, a condition affecting hearing and vision. The discovery could lead to more precise genetic diagnosis and improved treatment options for patients.
A recent study has identified a gene linked to severe birth defects, specifically Meckel-Gruber and Joubert syndromes. The research found that mutations in the TMEM216 gene can cause these conditions by disrupting cellular signaling pathways.
Researchers have identified a genetic cause of inherited conditions causing severe fetal abnormalities, potentially leading to treatments for related disorders. The study found that the faulty gene stops cells' 'antennae' from transmitting information.
Researchers at the University of Pittsburgh have discovered a genetic mutation linked to lymphatic dysfunction, which could lead to a first-ever target for drug therapy for lymphedema. The study identified mutations in the GJC2 gene that impair cell signaling, leading to fluid accumulation and tissue swelling.
A recent study found two genetic regions associated with lower birth weight, one of which is also linked to an increased risk of type 2 diabetes. The research analyzed over 38,000 Europeans and showed that individuals with a specific gene variant were 25% more likely to develop diabetes if they had low birth weight.
Researchers have identified a molecular scaffold that bridges the two rare inherited disorders, revealing how cells repair damaged DNA. The study suggests that disruption of this interaction leads to similar chromosomal repair defects in both Fanconi anemia and Bloom's syndrome.
Researchers found that administering APC and its analogs slowed disease progression and extended survival in mutant SOD1-expressing mice. These compounds worked by decreasing SOD1 expression in brain cells, indicating a potential neuroprotective effect of APC in mouse models of inherited ALS.
Researchers have developed a new mouse model of amyotrophic lateral sclerosis (ALS) that closely replicates human symptoms, including progressive paralysis and muscle loss. The genetically engineered mice also exhibit damage to motor neurons and protein clumps, similar to human ALS pathology.
A new type of genetic change, a second copy of an entire gene, has been identified as a cause of familial chordoma, a devastating and rare form of cancer. The T (Brachyury) gene duplication was found in patients with the disease, but its exact mechanism is unknown.
Researchers identify a genetic mutation in the renin gene as a cause of inherited kidney disease, characterized by anemia and progressive kidney disease. The discovery provides insight into the role of renin in blood pressure regulation and offers potential treatment options.
St. Jude Children's Research Hospital scientists identify inherited genes ARID5B and IKZF1 associated with childhood ALL, including a gene that may predict drug response. The study offers the first proof-based evidence of inheritance playing a role in childhood ALL.
A new embryo test can detect both genetic and chromosomal abnormalities, offering a faster and cheaper alternative to current fertility treatments. The test, known as genome-wide karyomapping, can identify diseases caused by specific gene mutations and aneuploidy at the same time.
Researchers have identified a potential genetic link to vesicoureteric reflux (VUR), a common cause of urinary tract infections and kidney failure in children. The study found that the VUR susceptibility gene is located on chromosome 12 and may be inherited in an autosomal recessive fashion.
The new center aims to prevent, treat, or cure Huntington's disease by 2020 through cutting-edge research and collaboration with pharmaceutical companies. Investigators will focus on identifying potential drug targets and developing innovative technologies to modulate the disease.
Researchers identified a common genetic sequence alteration that enhances the likelihood of acquiring a mutation in a gene linked to certain blood diseases. Patients with myeloproliferative neoplasms have a higher risk of developing another JAK2 mutation due to inherited DNA sequence changes.
A new gene mutation has been identified as a common cause of inherited ALS, affecting motor neurons in the central nervous system. This discovery is part of a national study led by Northwestern University, aiming to understand the triggers of motor neuron death and develop new treatments.
Researchers discovered that mice lacking neuregulin develop dendritic spine abnormalities and exhibit hallmarks of schizophrenia, supporting the hypothesis that glutamatergic neurons play a crucial role. The study suggests that developmental defects in brain structure may contribute to schizophrenia's onset.
A new study by Tel Aviv University and the University of Utah found a significant link between brain cancer and family history. Researchers discovered that a four-fold increase in risk exists for individuals with a family history of brain tumors, highlighting genetic predispositions.
Genetic testing has significantly improved the detection of individuals at risk for sudden cardiac death in athletes. This technology enables informed decision-making regarding care and training continuation among athletes. However, its use in asymptomatic genetic carriers with normal phenotypes is a topic of controversy.
A genetic trait linked to a 10-20 percent incidence in colorectal cancer patients significantly increases the risk of developing cancer to 50 percent if inherited, surpassing other known gene mutations.