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Scientists in the UK are discovering a new genetic disease that inhibits brain development

If a child is born with a smaller-than-average head size or stops growing after birth, he / she is likely to have a rare genetic disease. A research team from the Universities of Portsmouth and Southampton, UK has discovered a new genetic disease that could delay children’s intellectual development and lead to an early cataract outbreak. Most patients with the condition were also found to have microcephaly, a congenital malformation in which a baby is born with a smaller-than-average head size or the head stops growing after birth. Often, such babies also have a smaller brain that may not have developed properly, the researchers said. Read also – Rare disease in children: Britain approves ‘most expensive drug in the world’ for treatment of spinal muscular dystrophy

Believed that the study does not yet have a name, it may affect one in 17 children, the research team noted in the study results, published in the journal Genome Medicine. The researchers sequenced the DNA of patients affected by a new genetic disease and their families and found changes in a gene called layer 1 protein complex (COPB1), indicating that it is the underlying cause of the disease. When they mimicked the human gene versions using tadpoles, they found that tadpoles with the changes in the COPB1 gene had smaller brains differently than control tadpoles. In addition, many of the tadpoles with the changes in the COPB1 gene had cataracts, just as they have seen in people suffering from the condition. This clearly indicates the link between the gene and the disease. Also read – Two brothers with Hunter Syndrome go through Supreme Court in Delhi seeking free treatment

Identifying the version will help physicians provide more accurate testing and prenatal diagnosis of this rare disease as well as develop targeted interventions, the research team determined. Also read – Nonan Syndrome with Multiple Lentigines: Have you heard of this disorder before?

Three common Hereditary genetic disorders and their symptoms

Genetic disorders can be caused by a mutation in a single gene or mutations in multiple genes, or a combination of genetic mutations and environmental factors or changes in chromosomes, the structures that carry genes. Some genetic mutations are inherited from parents, while others occur during a person’s life at random due to exposure to several environmental factors such as cigarette smoke. Here are some common types of genetic disorders –

Down Syndrome

Down syndrome is a genetic disorder caused when abnormal cell division causes further replication of the 21st chromosome. This additional genetic material causes physical and mental developmental delays in children born with this condition. Common symptoms associated with Down syndrome include: small head and short neck; Flat face and eyes inclined upwards, flat ears placed lower than usual, large protruding tongue, wider hands and short fingers, etc.


Thalassemia is an inherited blood disorder that causes a person to produce less than normal hemoglobin. Because hemoglobin helps red blood cells carry oxygen, a deficiency in it can cause anemia and leave the patient tired. In severe anemia, regular blood transfusions and chelation treatment may be required. The signs and symptoms of thalassemia include fatigue, weakness, pale or yellowish skin, facial bone defects, slow growth, bloating and dark urine. In some babies these signs and symptoms appear at birth while others develop them in the first two years of life.

cystic fibrosis

Hereditary disease, cystic fibrosis causes patients to produce thick and sticky mucus that can clog the lungs and block the pancreas as well as affect their digestive and reproductive systems. It is estimated that 95 percent of male cystic fibrosis patients are sterile. Cystic fibrosis is a life-threatening condition, and people with the condition tend to have a shorter-than-normal lifespan, with a median age of survival being 33.4 years.

Patients with cystic fibrosis contain higher-than-normal levels of sweat. If your child has it, you can taste the salt when you kiss it. Other signs and symptoms of cystic fibrosis resulting from damage to the respiratory and digestive systems include: a persistent cough that produces thick mucus (sputum), wheezing, smeared fatty stools, low weight gain and growth and chronic or severe constipation.

If you notice these signs and symptoms of genetic disorders, take your child to a doctor who is knowledgeable in these situations.

With risky inputs

Posted: April 4, 2021 1:49 PM | Updated: April 4, 2021 13:56

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