Genetic Testing of Diseases - Latest News and Research Updates

Health News Posted on May 6, 2021 -

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People Aged Over 105 may Have More Efficient DNA Repair

People aged above 105 years may have a genetic background with more efficient DNA repair, according to a study published in eLife . These people have had their genomes decoded in a detailed manner first time, providing clues as to why they ...

Novel Test Detects Leftover Cancer DNA in the Blood

Tumor-uninformed test detects the residual or leftover cancer DNA circulating in the blood of patients following treatment. Guardant Reveal test developed by precision oncology company Guardant Health, is "tumor-uninformed". It doesn't require ...

Gene Therapy Shows Promise in Congential Blindness Patients

New gene therapy for a congenital blindness was found to be safe and improved patients' vision, according to a clinical trial led by researchers at the Scheie Eye Institute in the Perelman School of Medicine at the University of Pennsylvania. ...

Gene Therapy to Combat HIV Devised

A more efficient, enduring CAR gene therapy to combat HIV has been devised by a UCLA research team. This new approach to CAR T gene therapy -- a type of immunotherapy that involves genetically engineering the body's own blood-forming stem ...

Hot Spot For DNA Damage In Neurons Have Been Discovered

Specific regions within the DNA of neurons that accumulate a certain type of damage (called single-strand breaks or SSBs) have been discovered by the researchers at the National Institutes of Health (NIH). The general understanding of ...

Three Drugs Regimen Exhibit Safer Efficacy Against Cystic Fibrosis

Regimen of three drugs (elexacaftor/tezacaftor/ivacaftor) that targets the genetic cause of most commonly affecting cystic fibrosis was found to be safe and effective in 6-11-year-olds as per an international, open-label Phase 3 study at the ...

Therapy for Cause of Cystic Fibrosis Safe and Effective

Regimen containing three drugs (elexacaftor/tezacaftor/ivacaftor), found to be safe and effective in 6-11-year-old cystic fibrosis patients with at least one copy of F508del mutation in the CFTR gene. For children in this age group who have ...

FDA Approves New Treatment For Rare Duchenne Muscular Dystrophy Mutation

For the treatment of patients with Duchenne muscular dystrophy (DMD) along with a rare DMD mutation, the US Food and Drug Administration (FDA) has approved the antisense oligonucleotide Casimersen (Amondys 45, Sarepta Therapeutics) injection. ...

Drug Resistance Developed By Bacteria In Cystic Fibrosis – Discovered

Slimy strategy used by bacteria to defeat antibiotics and other drugs used to combat infections afflicting people with cystic fibrosis have been discovered by the researchers at the University of Montana, published in the journal Cell Reports. ...

World-First Fabry Disease Treated With Gene Therapy

Fabry disease patients were treated for the first time with gene therapy. Researchers say that the treatment is working and safe, revealed a world-first Canadian pilot study. The Canadian research team was the first to use gene therapy in 2017 ...

Is There a Link Between DNA and Marriage Satisfaction?

Newlyweds with higher levels of CC variation have successful relationships, as they are more grateful for their partner, have higher levels of trust more forgiving and are more satisfied with their marriages, according to a new study conducted by a ...

Knowing DNA Repair Toolkit to Chart Cancer Evolution

Deficiencies in DNA repair pathways increase the instability of the genes, and this causes cancer to develop. Therefore, detailed knowledge of how DNA repair pathways participate in this process is crucial for tracking tumor progression, ...

Genetic Testing Detects Uncommon Variants Incorrectly

Technology that is commonly used by commercial genetic testing companies is incorrect in detecting very rare variants, as per the study in the BMJ . After hearing of cases where women had surgery scheduled after wrongly being told they had ...

Newly Engineered Gene Therapy Offers Safer Treatment For Blood Disorders

Potentially safer and more effective gene therapy vector for blood disorders like sickle cell disease and beta-thalassemia have been developed by the researchers at Children's Hospital of Philadelphia (CHOP), published in the journal ...

Designer DNA Helps Treat Multiple Myeloma in Mice

Targeted approach helps to treat myeloma by silencing IRF4, a gene that allows myeloma stem cells and tumor cells to proliferate and survive. Past studies have shown that high IRF4 levels are associated with lower overall survival rates for ...

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Test Your Knowledge on Gene Therapy

Gene Therapy - Potential Treatment for Incurable Diseases Gene therapy is a novel procedure in which genetic material is introduced into a patient's cells to replace a faulty gene in order to try and cure disease. It holds promise in ...

Muir-Torre Syndrome (MTS)

Muir-Torre syndrome is a subtype of Lynch syndrome or HNPCC. It is a rare autosomal dominant cancer syndrome, characterized by neoplasms of the sebaceous glands and visceral organs, especially colon cancer.

Hunter syndrome

Hunter Syndrome is a rare inherited disease in which the breakdown of sugars that build connective tissues is impaired due to the malfunctioning of an enzyme.

Apert Syndrome

Apert syndrome is a rare inherited condition marked by abnormal shape of the face and skull due to premature fusion of the bones, and webbing of hands and feet.

Incurable Diseases

Incurable diseases are disorders of infectious, non-infectious, genetic, metabolic, neoplastic or autoimmune nature that do not currently have a cure.

Turner Syndrome

Turner syndrome, a genetic developmental disorder in females is caused by a missing or incomplete X- chromosome. Girls are short and have dysfunctional ovaries.

Harlequin Ichthyosis

Harlequin ichthyosis or ichthyosis congenita is a genetic disorder that results in a thick, dry and scaly skin with fissures and is often fatal.

Noonan Syndrome

Noonan syndrome is a genetic disorder that affects different parts of the body. It is caused by changes in one of various autosomal dominant genes.

Basics of Rare Diseases

Rare or orphan diseases are least understood of all chronic diseases. They are more common than projected and kill more people than cancer and HIV together.

Genes may Guide Intelligence throughout Life

Ever wondered how your intelligence level is different from others? learn more about how genetic makeup can guide intelligence during your lifespan

Mucopolysaccharidosis

Mucopolysaccharidosis (MPS) are a group of inborn metabolic disorders due to the absence or malfunctioning of specific enzymes required to process molecules called glycosaminoglycans.

Coffin-Lowry Syndrome

Find the facts of coffin-Lowry syndrome including Symptoms, Causes, Treatment, Diagnosis, Prevention and more information.

Huntington's Disease

Huntington's disease is a genetic degenerative disorder that affects the brain and causes psychiatric, motor and cognitive dysfunction. Learn about causes, symptoms and treatment

Galactosemia

Galactosemia is one of many genetically inherited diseases and it affects one's ability to process galactose. Learn about the symptoms, diagnosis and treatment for galactosemia.

Alagille Syndrome

Alagille syndrome is a rare genetic disorder that is caused by hereditary or spontaneous mutations in JAG1 or NOTCH2 on chromosome 20. Liver damage is a prominent symptom of this condition.

Williams Syndrome

Williams syndrome is a rare genetic disorder due to a deletion in the long arm of chromosome 7.

Seckel Syndrome

Seckel syndrome is a rare genetic disorder characterized by an abnormally small head, birdlike facial features, mental retardation, and blood malignancies.

Porphyria

Porphyria or vampire disease or is a group of inherited diseases that cause symptoms of the nervous system and/or skin. Treatment depends on the type of porphyria.

Aicardi-Goutieres Syndrome

Aicardi-Goutieres Syndrome is observed in infants and older children. To date, defects in 6 genes are known to cause the syndrome. Irritability, erratic sleep, and fever are some symptoms.

Christianson Syndrome

Christianson syndrome is a condition that occurs due to mutations (abnormal changes) in the gene SLC9A6 that is present on X chromosome. It primarily affects the nervous system.

Tuberous Sclerosis

Tuberous sclerosis is genetic disorder characterized by benign tumors in many parts of the body, including brain, skin, lungs, kidney and heart.

Radiation Hazards

Ionizing radiation can damage living tissue in the human body. It strips away electrons from atoms breaks some chemical bonds.

Von Recklinghausen's Disease

Von Recklinghausen's Disease / Neurofibromatosis can cause bone deformities and skin problems. Multiple soft-nerve tumors or neurofibromas are seen. Light brown tan spots develop on the skin.

Progeria

'Paa' is a film in which Amitabh Bachchan, in a rare role reversal, plays son to Abhishek Bachchan, his real-life son!

Muscular Dystrophy

Overview about muscular dystrophy, a muscle disease characterized by muscle weakness and muscle wasting.

Birth Defect - Genetic

Achondroplasia is a genetic disorder which is one of the leading causes of dwarfism

DNA Finger Printing

DNA fingerprinting is a technique which helps forensic scientists and legal experts solve crimes, identity thefts, legal suits and terrorism cases.

Cervical Cancer - Incidence

Cervical cancer is the second most common cancer among women and is the primary cause of cancer-related deaths in developing countries

Breast Cancer Management: Advances

The crab that invades the breast is no more a fear factor with all the advancements that medical science and customized protocols can fight breast cancer. the recent developments in the management of breast cancer.

Alzheimers Disease

Alzheimer's disease is a progressive neurodegenerative disease affecting memory and thinking and making the person increasingly dependent on others.

Achondroplasia

Achondroplasia is a rare genetic disorder of bone growth that causes short-limbed dwarfism. It occurs due to mutations in a single gene called the FGFR3.

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