Research on inherited diseases and their causes. Covers RNA therapies, hidden diabetes subtypes, pulmonary disease, and prenatal genetic testing.
A study finds that a lack of physical activity disrupts normal homeostatic mechanisms, leading to an increased risk of chronic conditions. The research highlights the importance of physical activity in preventing common chronic diseases, including cancer, cardiovascular diseases, and metabolic disorders.
A recent study reveals that mutations in the FBN1 gene can cause Marfan syndrome by disrupting an exonic splicing enhancer, leading to exon skipping and compromised fibrillin protein activity. This understanding may help explain other human diseases associated with exon skipping.
Researchers identified a new cholesterol disorder caused by mutations in the CYP7A1 gene, leading to elevated cholesterol levels and increased risk of heart disease. The study found that carriers of the mutation had significantly higher cholesterol levels and were more likely to develop gallstones.
A genetic polymorphism in the PON1 gene has been found to significantly increase stroke risk in young adults by a factor of 4.10 compared to those without the abnormality. The presence of this genetic abnormality also interacts with other risk factors, such as smoking and high blood pressure, to multiply stroke risk.
Researchers created genetically engineered mice lacking keratin 17, a structural protein found in hair follicles, to investigate its role in hair growth. The results show that K17 knockout mice display temporary baldness due to hair fragility and premature cell death, but eventually regrow fur at around three weeks old.
Researchers discovered an autoimmune response to GAD65 enzyme leading to excess glutamate and brain damage in children with juvenile Batten disease. The study suggests immunotherapy may slow progression of the disease, which is fatal by late teens or twenties.
Researchers identified the AGPAT2 gene as the cause of congenital generalized lipodystrophy, a rare disorder characterized by extreme lack of body fat at birth. The disorder leads to severe diabetes, insulin resistance, and metabolic complications in affected individuals.
A study by UC Berkeley's Bruce N. Ames found that megavitamin therapies can effectively treat over 50 genetic diseases, mostly rare metabolic disorders due to defective enzymes. High-dose vitamins, particularly B vitamins like niacin and thiamine, may also improve metabolism in older populations.
Studies reveal connections between the serotonin transporter gene SLC6A4 and autism, as well as a potential link between the glutamate receptor 6 (GluR6) gene and the syndrome. The findings contribute to a deeper understanding of the genetic underpinnings of autism.
A study by Pitt researchers found that men and women have different genetic markers associated with severe depression, which may lead to better diagnosis and treatment strategies. The findings suggest that sex-specific genes for recurrent major depression may be the rule rather than the exception.
A new UCLA study finds that 'sweaty palms' syndrome is caused by a dominant gene, affecting up to 5% of the population. The disorder can significantly impact daily life and career, with symptoms including excessive sweating in hands and feet.
A large DNA-based study revealed that only a small percentage of people with the genetic mutation for hereditary hemochromatosis develop symptoms. Most individuals with the mutation remain asymptomatic and do not experience the disease's life-shortening effects.
Researchers investigate genetic link between Prader-Willi syndrome and psychotic illness, finding association with a sex-specific imprinted gene on chromosome 15. The study suggests that allelic variation of this gene could be a cause of genetic vulnerability to psychotic illness in the general population.
Scientists discover that the 'Sleeping Beauty' transposon can deliver gene sequences to correct congenital blood and immune system disorders prenatally. Jakub Tolar's presentation also shows bone marrow stem cells engraft and differentiate into brain and liver cells after in utero transfer.
Researchers found that Helicobacter pylori infection was more common in patients with hereditary angioneurotic oedema, a genetic disorder causing non-itchy swellings. Eradicating the infection improved abdominal symptoms and reduced episodes of acute pain.
A new study by UCLA researchers has created images showing how an individual's genes affect their brain structure and intelligence. The findings, published in Nature Neuroscience, reveal that genetic differences can significantly impact brain regions controlling language and reading skills.
Researchers have determined the function of the Hairless protein, revealing its role in regulating gene expression dependent on the thyroid hormone receptor. The discovery provides molecular insight into congenital hair loss disorders and represents a stepping stone for designing therapeutic agents.
Mutations of the Lkb1 gene cause Peutz-Jeghers syndrome, a disorder characterized by polyps in the intestines and increased risk for cancerous tumors. Researchers found that Lkb1 regulates the formation of heart and blood vessels in embryos.
The Mayo Clinic emphasizes the need for quality web-based genetics information for patients and physicians. Researchers found that patients often turn to the internet for genetic information, but may find it confusing and inaccurate. Centralizing access to reliable websites and improving readability could address these issues.
Researchers at Yale University have identified a genetic cause of high blood pressure, a condition that affects 25% of adult populations. The study found two genes that contribute to the disease, which is linked to increased salt reabsorption and diminished potassium secretion in the kidneys.
A study of 347 patients found that CoQ10 slowed the decline of patients with Huntington's disease by an average of 15 percent, improving cognitive skills and daily responsibilities. However, the results are inconclusive due to limited patient numbers, and more research is needed before CoQ10 can be recommended as a treatment.
A clinical study of 800 people with Long QT Syndrome found that an individual's own characteristics and electrocardiogram findings are the major determinants of risk for sudden death. This challenges the long-held assumption that family history plays a role in determining the risk.
Couples seeking preimplantation genetic diagnosis (PGD) for single gene disorders or to avoid chromosomal abnormalities have differing views on embryo destruction and genetic trait selection. The study found that most couples prioritize having a healthy child over preventing genetic transmission of inherited mutations.
Researchers have identified a genetic mutation, FOXL2, responsible for early onset of menopause in some women, who may also be born with blepharophimosis. The discovery sheds light on the role of genetics in age-related changes and may lead to new insights into aging and reproductive health.
A Duke University study reveals that long-term genetic instability in cancer cells can be induced by stresses beyond DNA damage, including nutrient starvation and heat. This persistent genetic instability may play a key role in carcinogenesis and could help explain the large number of mutations seen in cancer cells.
Researchers have discovered a crucial genetic element that regulates alpha-synuclein protein activity, which is involved in both inherited and non-inherited forms of Parkinson's disease. By identifying this element, scientists hope to gain insights into the underlying mechanisms of the devastating disease.
Researchers have identified a new genetic risk factor for late onset Alzheimer’s disease on chromosome 10, which may interact independently of the APOE4 gene. The study found a potential mechanism linking this region to elevated amyloid-beta levels in the brain, suggesting new therapeutic opportunities.
Scientists at Baylor College of Medicine identified new genes involved in RNA processing, transcriptional regulation, and detoxification that contribute to neurodegenerative diseases. The discovery provides new insight into the disease process and may lead to the development of drugs to slow or halt degeneration.
Researchers have identified a genetic cause for immunoglobulin A nephropathy (IgAN), the most common form of glomerulonephritis worldwide. The gene, located on chromosome 6, is linked to the disease in about 60% of families studied.
A University of Iowa study found that individuals who test negative for Huntington disease often experience doubts and guilt rather than relief. They struggle to redefine their goals and purpose in life after learning they don't carry the gene mutation.
New research found that 13 of 50 people with primary pulmonary hypertension shared a genetic defect in the BMPR-II gene, similar to those with familial forms. This discovery has important implications for treatment and future therapies focused on altered cell signals.
Researchers discovered a high incidence of Alzheimer's disease in an Arab community, suggesting a possible role for a previously unknown recessive gene. DNA analysis revealed that only 4% of participants carried the apolipoprotein E-4 gene variant, lower than expected rates in other populations.
A team of researchers has discovered the gene responsible for Mucolipidosis IV, a rare genetic disorder affecting Ashkenazi Jews. The newly identified gene is linked to impaired fat breakdown, leading to accumulation of fats and sugars in lysosomes.
Researchers analyzed biologic, chemical, and genetic mechanisms to understand how SCA2 gene mutations cause damaged nerve cells. They found basic mechanisms in SCA2 cells differ from other genes associated with neurodegenerative diseases, suggesting new treatment possibilities for ataxia and related conditions.
Researchers find nearly 99% identity in X and Y chromosome regions, revealing a much smaller difference in mutation rates. This discovery suggests that genetic-disease-producing mutations must be explored for individual underlying causes, potentially changing the understanding of inherited diseases.
Researchers at UC Irvine have discovered a protein called calsenilin that can offset calcium imbalances in brain cells, which contribute to the development of early-onset familial Alzheimer's disease. This finding may lead to pharmaceutical therapies and preventive measures to halt the progression of this neurological disorder.
Researchers have identified three candidate regions on chromosomes 5q, 7q, and 19q that may contain genes influencing prostate cancer aggressiveness. These regions are associated with a higher Gleason score, indicating poor differentiation of tumor cells and increased risk of metastasis.
The World Alzheimer Congress will showcase recent discoveries on Alzheimer's disease, including the link between cell suicide and amyloid protein accumulation. Researchers also explored the role of apoE4 in driving brain damage and cognitive decline.
Researchers have pinpointed a genetic error in the VEGFR3 gene responsible for hereditary lymphedema, a condition affecting millions worldwide. This discovery enables genetic testing and provides a therapeutic target for inherited forms of lymphedema.
Researchers have developed a preimplantation genetic diagnosis test for OTCD, allowing them to detect the abnormality in embryos. This breakthrough may enable PGD tests for other families in the future, providing relief to those affected by this rare and distressing disease.
Researchers at Children's Hospital of Philadelphia uncover the connection between chromosome 22's chemical structure and genetic diseases like +der(22) syndrome. They found unstable DNA sequences that can lead to translocations, increasing the risk of disease.
Researchers discovered a new gene, neurofilament light, associated with Charcot-Marie-Tooth disease, which affects peripheral nerves and leads to progressive weakness. The defect is linked to demyelination, resulting in axonal loss and muscle denervation, also seen in other neurological disorders like Parkinson's and Alzheimer's diseases.
A survey of 95 individuals with a parent or sibling diagnosed with colon cancer found strong interest in genetic testing for susceptibility to the disease. However, many fail to follow recommended screening guidelines, highlighting the need for targeted educational efforts and interventions.
A study published in Alcoholism: Clinical & Experimental Research found that beta-endorphin levels are heritable and can predict an individual's risk of developing alcoholism. The research suggests that the hormone may be used as a biomarker to identify specific individuals at high genetic risk.
A study published in the New England Journal of Medicine highlights a rare genetic disorder Ehlers-Danlos syndrome Type IV, which increases the chance of early death. The disease affects between one in 100,000 and one in 500,000 people, with most deaths following rupture of large arteries.
Researchers at Ohio State University have developed a new technique to improve the accuracy of genetic testing for cancer and inherited diseases. The method separates human chromosomes and allows for independent analysis of each copy, detecting key mutations that were previously missed.
Researchers developed a new laboratory method to improve genetic diagnostic tests for colon cancer and inherited diseases. The technique detects defective genes that are masked when one copy is normal, increasing the accuracy of testing. This could lead to increased detection rates for many genetic diseases.
Hopkins researchers identified a dysfunction in HD that affects brain movement correction, leading to jerky movements. The study suggests that subtle jerkiness may appear before clinical symptoms, potentially providing an early diagnostic tool.
A research team at the Max Planck Institute of Neurobiology has discovered a new genetic cause for muscular dystrophy, uncovering a subtle disturbance in muscle fibre architecture. This breakthrough could improve diagnosis and therapeutic strategies for degenerative muscle disorders.
Researchers are conducting the largest study ever to identify the genetic susceptibility for osteoarthritis, a condition affecting over 21 million Americans. The three-year study will analyze DNA samples and health histories of 1,400 families with multiple siblings diagnosed with primary generalized osteoarthritis.
Researchers found that perforin, crucial for destroying abnormal cells, also plays a regulatory role in controlling the immune system's response to infections. This discovery may lead to new treatments and cures for diseases like lupus and multiple sclerosis.
A new transgenic mouse model develops damaging tau protein tangles as it ages, exhibiting clinical symptoms similar to tauopathies. The tau mouse is expected to aid in understanding the role of tau tangles in Alzheimer's disease and other neurodegenerative diseases.
A genetic abnormality in triglyceride regulation has been found to be common among Asian Indians, placing them at increased risk of heart disease. The study, which analyzed DNA from 100 people, suggests that this abnormality prevents blood fats from being broken down effectively.
Researchers at Wake Forest University School of Medicine have cloned the gene responsible for primary hyperoxaluria type II, a rare inherited form of kidney stone disease. The discovery may lead to better understanding and treatment of the disease, which can cause severe kidney failure and early death if left untreated.
Researchers at Howard Hughes Medical Institute uncover the first human disease linked to a defect in the MECP2 gene silencer mechanism. The discovery provides new insights into nervous system development and may lead to new treatments for Rett Syndrome, a neurodevelopmental disorder causing mental regression in young girls.
Researchers have identified 109 mariner elements in the human genome, which may contribute to genetic disorders such as Charcot-Marie-Tooth disease and hereditary neuropathy. The study's findings suggest that mariner transposons could be a hotspot for genetic change and error.
A team of international researchers has identified the gene responsible for congenital generalized lipodystrophy, a severe form of lipodystrophy characterized by selective loss of body fat from birth. The discovery is expected to provide insights into common obesity and metabolic disorders.
Gene-repair pioneer Eric Kmiec has established the University of Delaware's Laboratory of Gene Therapy, focusing on sickle-cell anemia, Huntington's Disease and food-crop advances. His technique repairs genetic mutations by stitching mutated sequences back together in their proper order.
Scientists have developed a new 'Knockout' mouse model that closely mimics the human kidney disorder IgA nephropathy, providing a promising lead for treatment. The researchers found that supplying deficient mice with uteroglobin prevented the disorder from occurring, mirroring human cases.
Researchers have found another aberrant gene on chromosome 2 that produces identical symptoms to the X-chromosome gene discovered earlier. The discovery improves genetic diagnosis prospects and may help in developing future therapies for hypohidrotic ectodermal dysplasia.