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British scientists have discovered a new genetic disorder that slows brain development




If a child is born with a smaller than average head size or stops growing after birth, he / she may be suffering from a rare genetic disorder. Researchers at the University of Portsmouth and the University of Southampton have discovered a new genetic disorder that slows children’s intellectual development and can lead to early onset of cataracts. The majority of patients with this condition have been found to have microcephaly, a birth defect in which a baby is born with a head size smaller than average or the head does not grow after birth. In many cases, such babies also have small brains that may not be properly developed, the researchers said. Read again- Rare Diseases in Children: UK Approves “World’s Most Expensive Drugs” to Treat Spinal Muscular Atrophy

The condition has no name yet, but it is likely to affect 1 in 17 children, the research team wrote in the findings and published in the journal Genome Medicine.Researchers have sequenced the DNA of a new patient Genetic disease And their families have discovered a genetic alteration called Coat Protein Complex 1 (COPB1), indicating that it is a potential root cause of the disease. When they used tadpoles to mimic human genetic variants, they found that tadpoles with alterations in the COPB1 gene had significantly smaller brains than control tadpoles. In addition, many tadpoles with altered COPB1 genes suffered from cataracts, as seen in people with this condition. This clearly shows the link between genes and disease. Read again- Two Brothers with Hunter Syndrome Move to Delhi High Court for Free Treatment

Identifying variants will not only help clinicians provide more timely and accurate screening and prenatal diagnosis of this rare disease, but will also help develop targeted interventions, the research team said. Says. Read again- Noonan Syndrome with Multiple Freckles: Have You Hear About This Disorder?

3 common Hereditary hereditary diseases and their symptoms

Hereditary disorders can be caused by mutations in one gene or multiple genes, or a combination of gene mutations and environmental factors, or changes in the chromosomes that carry the genes.Some gene mutations are inherited from parents, while other gene mutations occur randomly during a person’s life due to exposure to several environmental factors, such as: Cigarette smoke. The following are some common types of hereditary diseases –

Down’s syndrome

Down’s syndrome is a genetic disorder caused when abnormal cell division results in an extra copy of chromosome 21. This extra genetic material causes delayed and impaired physical and mental development in children born in this condition.Common symptoms associated with Down’s syndrome Includes: small head and short neck. Flat face and upwardly tilted eyes, lower than normal flat ears, large protruding tongue, wide hands and short fingers.


Thalassemia is a hereditary blood disorder that causes individuals to produce less than normal hemoglobin. Hemoglobin helps red blood cells carry oxygen, so a lack of hemoglobin causes anemia and tires the patient. Severe anemia may require regular blood transfusions and chelation therapy. Signs and symptoms of thalassemia include fatigue, weakness, pale or yellowish skin, deformities of the facial bones, slow growth, bloating, and dark urine. In some babies, these signs and symptoms appear at birth, while in others they develop in the first two years of life.

Cystic fibrosis

Cystic fibrosis, a hereditary disease, can cause patients to produce mucus, clog the lungs, occlude the pancreas, and affect the digestive and reproductive systems. It is estimated that 95 percent of male patients with cystic fibrosis are sterile. Cystic fibrosis Is a life-threatening condition, and people in this condition tend to have a shorter lifespan than normal, with a median survival age of 33.4 years.

Patients with cystic fibrosis have higher than normal levels of salt in their sweat. If your child has it, you can taste the salt by kissing it. Other signs and symptoms of cystic fibrosis due to respiratory and digestive system damage include persistent cough, wheezing, foul-smelling greasy stools that produce mucus (sputum), weight gain and poor growth. Includes, chronic or severe constipation.

If you become aware of these signs or symptoms of a genetic disorder, take your child to a doctor who is familiar with these conditions.

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Published: April 4, 2021 1:49 pm | Updated: April 4, 2021 1:56 pm

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