Genetic Disorders - Boston Children's Hospital
Genetic disorders include certain types of birth defects, chronic diseases, developmental problems, and sensory deficits that are inherited from one or both parents. Learn more from Boston Children's Hospital.
Genes and Genetics (for Teens) | Nemours KidsHealth
What Is a Genetic Disorder? A genetic disorder happens when a gene (or genes) has a problem with its code, and this causes a health problem. Sometimes a genetic disorder happens when a child inherits it from one or both parents. Other times, it happens only in the child (and the parents do not have the genetic disorder). How Do Genetic ...
Genetics (for Parents) | Nemours KidsHealth
What Is a Genetic Disorder? A genetic disorder happens when a gene (or genes) has a problem with its code, and this causes a health problem. Sometimes a genetic disorder happens when a child inherits it from one or both parents. Other times, it happens only in the child (and the parents do not have the genetic disorder). How Do Genetic ...
Genetic Testing 101: What Parents Need to Know
If your child has symptoms of a condition linked to a genetic disorder, your child's doctor may recommend genetic testing to confirm a diagnosis and refine treatment plans. Even if a child or adult has no unusual health symptoms, a family history of genetic disease can be a reason to recommend genetic testing.
Genetic Disorders | Genomics and Your Health | CDC
2024年5月15日 · There are several types of genetic disorders. Some disorders are caused by a genetic change (mutation) in a single gene; some are caused by an abnormality in one of the chromosomes; and some are complex, involving numerous genes and influences from environmental factors.
Genetics - Nemours Children's Health
We’re experts in pediatric genetic disorders, including conditions that are present at birth, conditions that affect the brain, rare syndromes that have many symptoms at once, and many more. Our team knows how genetic conditions can affect a …
Rare Diseases and Disorders in Children - UPMC Children's …
These are the rare diseases passed down through genes that we most often treat at our center: Alpha-1-Antitrypsin Deficiency (AATD). This disease can cause liver and lung damage. Fabry Disease. When a child's body doesn't have the enzymes to break down lipids or fats. It can cause kidney and heart problems. Gaucher Disease.
Overview of Chromosome and Gene Disorders - Overview of …
Variants of genes in other cells may cause disease that is not passed down to children (because the sperm or eggs are not affected). Having two copies of an abnormal gene can lead to serious diseases or conditions, such as cystic fibrosis or Tay-Sachs disease. Sometimes disorders can occur even when a person has just one copy of an abnormal gene.
Genetics Home Reference - Children's National Hospital
We provide genetic counseling services for families with a known genetic disorder and recurrence risk counseling for parents of a child with an inherited condition. Our genetic counselors provide information on family planning options, explain the testing options available to you and help coordinate referrals for related specialists at Children ...
Phenylketonuria (PKU) - Children's Hospital of Philadelphia
Cell and gene therapy is an innovative and cutting-edge approach to treating certain genetic disorders like PKU. Researchers at CHOP have pioneered some of the first FDA-approved cell and gene therapies for use in children. And we continue to investigate new ways of treating – and potentially curing – genetic disorders in children.
- 某些结果已被删除