Posts

Review: Understanding Rare Genetic Diseases in Low Resource Regions Like Jammu and Kashmir – India

Image
down syndrome chromosome 21 :: Article Creator Scientists Say Gene Editing Could Eliminate Down Syndrome Cutting-edge gene editing technology could eradicate Down syndrome, according to Japanese scientists. Down syndrome, which causes a range of developmental differences and affects 1 in 700 newborns in the United States, is caused by the presence of an extra copy of chromosome 21. The extra chromosome, also known as trisomy 21, causes cellular overactivity, compromises a range of processes within the body, and can manifest in distinctive physical traits, learning difficulties and health concerns. Now new research out of Mie University in Japan suggests that by using the DNA-modifying tech CRISPR, it is possible to remove the surplus chromosome in affected cells and bring cellular behavior closer to typical function. Down syndrome, which causes a range of developmental differences and affects 1 in 700 newborns in the United States, is caus...

NMC Guidelines For Competency-Based Training Programme For DM Medical Genetics

Image
hemoglobin disorders list :: Article Creator Hemoglobin Electrophoresis: Purpose, Procedure, And Results - Healthline What is a hemoglobin electrophoresis test? A hemoglobin electrophoresis test is a blood test used to measure and identify the different types of hemoglobin in your bloodstream. Hemoglobin is the protein inside red blood cells responsible for transporting oxygen to your tissues and organs. Genetic mutations can cause your body to produce hemoglobin that is formed incorrectly. This abnormal hemoglobin can cause too little oxygen to reach your tissues and organs. There are hundreds of different types of hemoglobin. They include: Hemoglobin F: This is also known as fetal hemoglobin. It's the type found in growing fetuses and newborns. It's replaced with hemoglobin A soon after birth. Hemoglobin A: This is also known as adult hemoglobin. It's the most common type of hemoglobin. It's found in h...

Fig. 1: Phenotypic and dysmorphic features of patient 1 (A and B),...

Image
edwards syndrome chromosomal abnormality :: Article Creator This Misunderstood Genetic Condition Has Afflicted Humans For Centuries ... Beneath the shadow of an ancient hilltop village of Alto de la Cruz situated in Spain's northern Navarre region, an infant was buried with all the pomp and finery not typically reserved for anyone in this region during the Iron Age. While the dead were usually cremated, this baby was placed beneath a dwelling surrounded by sheep and goat remains — likely offerings for the afterlife — bronze rings and a Mediterranean sea shell. This infant, whose remains date back to nearly 800 to 500 B.C., wasn't the only one laid to eternal rest with such tender care. Since the 1940s, archaeologists have uncovered infants elsewhere in Spain, Greece, and Bulgaria buried in a similar reverent fashion. But only now, with the help of genetic sequencing, are scientists uncovering what exactly was so special about these childre...

Acute health events in adult patients with genetic disorders: The Marshfield Epidemiologic Study Area

Image
acquired factor x deficiency :: Article Creator What Is Factor X Deficiency And How Is It Treated? - WebMD Factor X is a protein in your blood that helps with clotting. Blood clotting is important because that is what helps you to stop bleeding when you get a cut or bruise. Factor X deficiency is a genetic disorder when you are born without this protein. You can also develop the condition later in life.‌ Other names for factor X deficiency include:  Stuart-Power factor deficiency,  F10 deficiency,  Congenital Stuart factor deficiency  Congenital factor X deficiency Factor X deficiency is a condition that leads to a bleeding disorder. The symptoms of factor X deficiency include: The severity of factor X deficiency varies from person to person. Your body still produces 40% or more of the normal amount of factor X in mild cases. You may have no symptoms or only very minor ones.  Your body produces 10% to 40% of the usual amount of fac...

Genetic counseling for pre-implantation genetic testing of monogenic disorders (PGT-M)

Image
about hemophilia :: Article Creator Hematology: Heredity & Clotting FactorsTIME TIME December 27, 1963 12:00 AM GMT-5 All that most laymen know about hemophilia is that it is an odd and dangerous disease of the blood that strikes men only, although it is transmitted by women. Medical researchers have learned a great deal more than that, but when the nation's expert hematologists gathered in Washington, they realized that much more was still to be learned. They are baffled by at least eight bleeding disorders that are caused by the lack of any one of ten different clotting factors in the blood. Genetic Lottery. Classical hemophilia, known since ancient times, is caused by a severe shortage of clotting Factor VIII. This disease, which afflicted a dozen descendants of Queen Victoria, results from a defect in a recessive gene carried on the x (female) chromosome. If a hemophilic man marries a normal woman, all their sons are normal but a...

Review: Understanding Rare Genetic Diseases in Low Resource Regions Like Jammu and Kashmir – India

Image
chromosome 5 deletion syndrome :: Article Creator Cri-du-chat Syndrome: Symptoms, Causes, And Treatment Cri-du-chat (cat's cry) syndrome is a rare disorder that causes issues with an infant's growth and development. Some characteristics of the condition include a distinct cry that sounds like a meowing kitten, a small head size, and facial abnormalities. It first appeared in literature in 1963 when Dr. Jerome Lejeune named the disorder after its most distinctive feature. "Cri du chat" is a French phrase that translates to "cry of the cat." Cri-du-chat syndrome is considered rare, appearing in 1 in every 15,000–50,000 live births. However, it is one of the most common chromosomal disorders. This article discusses cri-du-chat syndrome, its symptoms, causes, and more. Cri-du-chat syndrome is a chromosomal deletion syndrome. It occurs when some portion of the short arm of chromosome 5 (5p) ...

Acute health events in adult patients with genetic disorders: The Marshfield Epidemiologic Study Area

Image
low platelet count anemia :: Article Creator Anemia And Thrombocytopenia: Causes And Treatment - Medical News Today Anemia and thrombocytopenia cause low levels of red blood cells and platelets. This can cause fatigue and bleeding problems. Thrombocytopenia is a low platelet count. Platelets, also known as thrombocytes, are small blood cells that bone marrow produces. Platelets help the blood clot in order to heal wounds. Low platelet counts can cause bleeding problems. Anemia is a lack of healthy red blood cells. Red blood cells carry oxygen around the body, so anemia may cause people to experience fatigue or shortness of breath. This article will describe anemia and thrombocytopenia in more detail and explore a range of medical conditions that may cause them to occur together. People with mild cases of thrombocytopenia may not notice any symptoms, and doctors often discover it through a routine blood test. ...