Empowering Parents with Knowledge and Tools to Navigate Genetic Disorders
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There are many genetic disorders – 7,000 identified to date, and this number is rising all the time. The majority of genetic disorders are also referred to as rare diseases, meaning they affect less than 200,000 people in the US. Genetic disorders may be the result of a specific gene change or mutation. They may […]
Genetic illnesses are often called by different names and terms. The most common include rare diseases, genetic disorders, genetic syndromes, and genetic conditions. The broad definition of a genetic illness is caused by a genetic or chromosomal change or mutation in the DNA of an affected individual. A gene or chromosome change can trigger any […]
Some of the most widely recognized symptoms of rare diseases are their unique facial features. Perhaps the most well-known of these are the almond-shaped eyes and flattened nasal bridge common in individuals with Down syndrome. When it comes to diagnosing a genetic disease, the identification of specific facial features in an individual may be used […]
There are five widely recognized genetic disorders in babies that are currently believed to be the most common. This is either because of their high prevalence or because there is more awareness about these particular genetic disorders. This genetic disorder occurs in 1 in every 700 live births in the US, making it one of […]
A chromosomal abnormality affects either the number or structure of chromosomes. This can involve missing or extra chromosomes, or structural changes such as missing parts, duplications, or rearrangements. A chromosomal abnormality may be inherited (passed down from parents to child) or it may be the result of a new mutation or gene change that occurs […]
Some genetic diseases, due to the way in which they are inherited or passed on, may only affect mothers and sons. This occurs when a genetic disease is inherited in an X-linked recessive pattern. If a Mother carries a gene mutation or change (known to cause a rare disease) on one of her two X […]
Chromosome deletion syndromes are caused by deletions from parts of chromosomes. This means that parts of a chromosome are missing as a result of the deletion. Also known as chromosomal abnormalities these deletions can cause serious medical and health issues from birth. They can also cause severe intellectual disability. Chromosomal deletion abnormalities, including some of […]
Genes form the basis of all living organisms. Scientists once tested to see what was the smallest possible amount of genes necessary to sustain life. Starting with a microbe that had one of the smallest known genomes (complete sets of genetic instructions), they trimmed down the genes to 473. However, even at that relatively tiny […]
Williams syndrome is a genetic syndrome that presents with multiple symptoms. It is defined as a rare disease and occurs in just 1 in every 10,000 people. Symptoms of this rare disease affect multiple systems and parts of the body. The syndrome is caused by the deletion of specific genes from a very specific region […]