Articles tagged with Genetic Disorders
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.
A novel gene, BRI, located on chromosome 13 has been identified as responsible for familial British dementia, a rare inherited disease that causes progressive dementia and spasticity. The discovery provides new clues to the abnormal changes in the brain that lead to dementia.
Researchers describe the first case of sporadic fatal insomnia (SFI), a neurologic disorder matching Shakespeare's witches' curse, caused by protein misfolding rather than a mutant gene. The condition's symptoms and neuropathology are identical to those of fatal familial insomnia.
Scientists have discovered a biochemical connection between presenilin and Notch, a protein controlling crucial aspects of developmental biology. This link may lead to new insights into the causes of Alzheimer's disease.
Scientists have confirmed that a protein complex, when defective, causes limb girdle muscular dystrophy. Researchers developed a cell culture system to mimic the defect and found that complete assembly of the sarcoglycan complex is dependent on simultaneous synthesis of all four sarcoglycans.
Researchers have localized a new gene, SCA10, associated with a rare form of inherited ataxia that also causes seizures in 20% of family members. The finding may shed light on the pathogenesis of epilepsy.
Recent genetic studies suggest modern humans originated in Africa, with extremely high genetic diversity across the continent. This diversity holds potential for understanding genetic diseases of Africans and African Americans, as well as finding treatments for diseases like malaria and HIV.
Researchers at Duke University Medical Center found that umbilical cord blood transplants can cure genetic diseases in children, with an overall survival rate of 68% and 80% success rate in patients under 2 years old. Early diagnosis and treatment are key to the successful outcomes.
A study reveals that mutant tau proteins disrupt microtubule assembly, leading to neuronal death in frontotemporal dementia and parkinsonism (FTDP-17). This discovery suggests a primary role for tau tangles in disease progression, pointing to potential therapeutic strategies involving tau-stabilizing drugs.
Researchers at Jefferson Medical College successfully used a gene repair technique to change the color of white albino mice cells to black, restoring melanin production and correcting a genetic mutation. The breakthrough holds promise as a potential treatment for some hereditary diseases by correcting the underlying genetic defect.
A study of 3359 twin pairs found that genes play a significant role in two behaviors contributing to compulsive gambling, with familial factors explaining 62% of the behavior. The researchers estimate that about half of these behaviors are genetically mediated, highlighting the importance of inherited factors in vulnerability to gambling.
A new form of inherited dwarfism, known as Dwarfism of Sindh, has been identified in a large Pakistani family. The condition is caused by a genetic mutation in the growth hormone-releasing hormone receptor (GHRH-R), leading to growth hormone deficiency and dwarfism.
Researchers identify three mutations in tau gene causing hereditary neurodegenerative diseases, providing new direction for exploring Alzheimer's disease. The findings suggest that abnormal tau protein accumulation kills brain cells, potentially leading to the development of treatments for related diseases.
Researchers have created a transgenic mouse model of Huntington's disease, exhibiting progressive behavioral and motor dysfunction. The mice developed similar neuropathological changes to those seen in human Huntington's disease, with symptoms worsening as the abnormal gene load increased.
Researchers found a genetic mutation in the CCR5 gene promoter that significantly delays HIV disease progression, affecting approximately 20% of infected individuals. The mutant promoter is 45% less active, leading to slower disease progression and increased resistance to HIV infection.
A study of 206 patients with Alzheimer's disease found that those with the lowest genetic risk had fathers who were significantly older at birth. This suggests a possible link between paternal age and increased susceptibility to the disease, which could be influenced by environmental factors affecting the father's DNA.
Scientists found that aspirin suppresses accumulation of genetic mutations causing hereditary colorectal cancer. Aspirin screens for cells with stable genetics, potentially preventing the disease. Researchers now plan a clinical trial to study higher doses of aspirin in preventing hereditary colon cancer.
Researchers at UT Southwestern Medical Center have shown that the transmission of mtDNA in yeast is organized and finite, rather than random. This discovery has implications for understanding genetic disorders caused by mtDNA mutations in humans, where the mother passes on a minority of her mtDNA copies to the fetus.
A 15-year study in over 100 families and 1,000 subjects provides the first reliable evidence of genetic susceptibility to schizophrenia. The study identified a stretch of DNA on chromosome 13 associated with schizophrenia susceptibility.
A new genetic mutation, APC I1307K, is found to modestly increase the risk of hereditary breast cancer in women of Ashkenazi Jewish descent. The mutation's effect is most significant in those who already carry BRCA mutations.
Researchers at Oregon Health Sciences University have identified a genetic cause for age-related macular degeneration, the leading cause of blindness in the US. A large family study revealed a specific gene location on chromosome 1q25-q31, offering hope for future treatments and preventative measures.
A study by Johns Hopkins School of Public Health found that one APOE variant can predict the age of onset for Alzheimer's disease in those predisposed. The research suggests that lifestyle choices may be protective against the disease.
Researchers at UCSF have identified nine genetic mutations in the P4501 alpha gene that cause hereditary vitamin D-dependent rickets, a condition affecting bone growth and development. The discovery enables prenatal diagnosis and genetic testing of adults to identify carriers of the mutated gene.
Researchers at Cornell University have discovered a genetic correlation between dog blindness and a similar human disease, potentially leading to new treatments for human eye disorders. The study identifies the canine version of the human RP17 gene defect, which could lead to gene therapy methods for both dogs and humans.
Researchers found a genetic link between bleomycin hydrolase and Alzheimer's disease, with individuals having two copies of the G allele being four times more likely to develop AD. This discovery offers new opportunities for early intervention and potential therapy targeting this enzyme.
Researchers have created mouse models with induced mutant lipoproteins to study atherosclerosis, providing insights into the genes responsible for human diseases. The study reveals that breeding prone traits onto different strains has helped identify differences in susceptibility and resistance genes.
Researchers at Duke University Medical Center have developed a groundbreaking treatment for Pompe disease, a rare genetic muscle-wasting disorder. The injectable enzyme therapy has shown promise in improving muscle strength and reducing glycogen buildup in muscles, offering new hope for children born with the fatal condition.
In 1997, scientists made significant discoveries in cloning, with the cloning of Dolly sparking debate on ethics and potential benefits. The year also saw major breakthroughs in Mars exploration, gamma ray bursts, and advances in genetic understanding, including the identification of clock genes and microbial genomes.
A genetic map of dogs was constructed using 150 microsatellite markers, revealing the organization of genes and traits on the canine genome. The study has significant implications for understanding human diseases such as cancer, epilepsy, and bleeding disorders.
Researchers have identified a novel human gene responsible for the systemic autoimmune disease APECED. The discovery provides valuable insights into the mechanisms of destructive autoimmune responses and may hold significance for other autoimmune conditions like diabetes and rheumatoid arthritis.
Researchers investigated the role of Btk in B cell development and found it essential for choosing which B cells launch an attack against invading bacteria. Additionally, Btk plays a crucial role in telling B cells not to react to autoantigens, preventing autoimmune diseases like rheumatoid arthritis and diabetes.
Researchers have identified a genetic susceptibility locus for ET, a debilitating disorder characterized by tremors in the arms, head, neck, and voice. The discovery paves the way for future research to identify the cause of ET and develop more effective treatments.
Researchers have discovered that saliva is a reliable source of genetic material for DNA screening, eliminating the need for blood samples and associated risks. This breakthrough could make genetic testing more accessible to populations previously outside the medical mainstream.
Researchers found that a gene linked to family-inherited Alzheimer's accelerates amyloid peptide production and plaque formation. The study suggests that early changes can be targeted with drugs to slow or prevent the disease.
A MGH-led team has pinpointed the location of the DYT1 gene on chromosome 9, revealing it is responsible for virtually all cases of early-onset dystonia. The discovery may help understand how stress triggers neurological diseases and lead to the development of a blood test to diagnose the disorder.
Virginia Tech Professor Doris Teichler Zallen explains the options, limitations, and problems of genetic testing for disorders like Alzheimer's, breast cancer, and muscular dystrophy. She highlights the need for informed consumers to weigh the benefits and risks of testing against their personal values and circumstances.
Researchers have discovered cellular and biochemical mechanisms that could lead to the development of new drugs to prevent or treat Huntington's disease. The study identifies neuronal intranuclear inclusions as aggregates of huntingtin protein, which interacts with brain cells.
Researchers found that mice with the human gene Bcl-2, which protects against cell death, developed ALS significantly later and lived longer than those without. The study suggests that gene therapy could delay ALS onset and lead to the development of drugs mimicking protective genes.
Researchers have identified the genetic link to Griscelli disease, a rare autosomal recessive disorder characterized by partial albinism and immunologic abnormalities. The gene responsible for the condition is myosin-5a, which plays a crucial role in organelle transport within cells.
Scientists at the NIH have identified a gene abnormality causing some cases of Parkinson's disease, which affects nerve cells and dopamine production. The discovery provides a new tool for understanding cellular abnormalities in Parkinson's disease and connects it to research on Alzheimer's disease.
A recent study published in Science found that genetic inheritance patterns continue to play a significant role in how people learn and process knowledge in old age. The research, conducted on Swedish twins aged 80+, showed that heritability accounted for 55% of individual differences in cognitive ability.
Researchers at the University of Chicago found a protein molecule that transmits genetic traits without DNA or RNA in yeast, forming long fibers like those seen in neurodegenerative diseases. This discovery sheds light on the mechanism behind these devastating brain disorders.
Researchers at Johns Hopkins Medicine found that the gene KVLQT-1 is imprinted nearly everywhere in the body, but not typically in heart cells. This selective imprinting may explain why changes to the gene have different effects on heart rhythm and growth disorders.
Scientists have developed spectral karyotyping, a powerful new way to visualize human chromosomes in a full-color palette. This technique allows for easy examination of chromosome changes that could lead to disease, such as missing or extra pieces, and can be used to identify chromosomal abnormalities linked to disease progression.
Researchers have created a mouse model that mimics Familial Combined Hyperlipidemia (FCHL), a disorder causing high cholesterol and triglycerides, leading to premature heart disease. The study suggests APOC3 genetic variations underlie the disease, offering new hope for drug development.
Researchers localized the gene responsible for Parkinson's disease to a small region of chromosome 4, marking a significant advancement in understanding the disease. This finding is based on a large family study with multiple cases of Parkinson's disease over several generations.
Researchers at the University of Wisconsin Medical School have identified genes for two devastating genetic disorders affecting abnormal pigmentation, including Hermansky-Pudlak syndrome and Chediak-Higashi syndrome. The discoveries may pave the way for genetic testing to identify patients and carriers, as well as new areas of biology.
Recent studies from Johns Hopkins Medicine have identified genetic links to Crohn's disease, a condition affecting 400,000 US citizens. The research suggests multiple genes contribute to the disease, with earlier onset in families with a history of the condition.
Research by Dr. Roger Rosenberg and colleagues found that people with one-fourth Cherokee or less ancestry had a lower risk of developing Alzheimer's disease, suggesting a potential protective genetic effect. The study suggests that ancestry may play a role in delaying the development of the disease after age 65.
The joint venture aims to improve the ability to diagnose, control, and cure cancers by identifying gene defects and relating them to treatment responses. Memorial Sloan-Kettering's retrospective database and Sequana's gene discovery platform will be combined to achieve this goal.
Scientists have developed a powerful new way to visualize the full set of human chromosomes using spectral karyotyping, which translates computer-gathered light waves into a full-color palette. This technique enables easy examination of chromosome changes that could lead to disease, such as missing or extra pieces.
Researchers have identified the gene responsible for Chediak-Higashi syndrome, a fatal childhood disease that weakens the immune system and increases cancer risk. The discovery could lead to new treatments and diagnostic tests for patients with cancer or autoimmune disorders like lupus.