700 Children's® – A Blog by Pediatric Experts

Posts About Genetics

Posted by: Murugu Manickam, MD on Oct 10, 2024

For as much as we think we know about Down syndrome, there is still more and more that we are learning. In fact, we are sometimes explaining things to families at the same time we are learning them.

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Turner Syndrome: Unique as a Butterfly

Turner Syndrome is a genetic condition, a difference in the number or type of sex chromosomes, in those assigned female at birth.

physician screening newborn for cystic fibrosis
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Cystic Fibrosis Newborn Screening

Within the first few days of a newborn baby’s life, a blood test is done. This newborn screening tests for many diseases that can be found and treated early in life, including cystic fibrosis.

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Pediatric News You Can Use From America’s Largest Pediatric Hospital and Research Center

700 Children’s® features the most current pediatric health care information and research from our pediatric experts – physicians and specialists who have seen it all. Many of them are parents and bring a special understanding to what our patients and families experience. If you have a child – or care for a child – 700 Children’s was created especially for you.

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Latest Posts

Duchenne Muscular Dystrophy: Advancements Research in the Pipeline

Aug 02, 2023

Researchers in the Jerry R. Mendell Center for Gene Therapy at Nationwide Children’s are leading the way in developing new treatments for Duchenne Muscular Dystrophy by participating in studies happening around the world. They also lead studies at Nationwide Children’s that are not happening anywhere else. Read More

Down Syndrome Awareness: Dispel the Misconceptions

Mar 21, 2023

March 21st is World Down Syndrome Day to symbolize the third copy of the 21st chromosome in people with Down syndrome. Read More

IGM Blog infographic

Genes, Genetics and Genomics: Understanding What Makes You Who You Are

Mar 03, 2022

Genes are short sections of DNA that carry information passed down from parents to their children. This information provides the instructions that determine physical features such as eye color, hair color and height. Sometimes this information can cause diseases. View our infographic explaining genes, genetics, the genome and genomics. Read More

Adult hand wearing a surgical glove, holding a baby's foot.

Research for Rare Disease: Giving Hope to Families Who Are Searching for Answers

Feb 24, 2022

According to the Centers for Disease Control (CDC), 30 million people in the United States have a rare disease—and about half of them are children. Sometimes rare diseases are caused by unique mutations, or changes, in a child’s genes. Read More

pregnant woman with hands on her belly.

Prenatal Genetic Testing: Is It Right for You?

Jan 10, 2022

Prenatal genetic testing can help find out if a fetus has a chromosome disorder. Chromosome disorders are often associated with multiple medical problems, such as intellectual disability and birth defects. Read More

parents laying down wit their daughter who has down syndrome.

Down Syndrome Life Expectancy Is Higher, But Not For Everyone

Jul 21, 2021

Over 6,000 babies are born with Down syndrome in the United States each year. As recently as 1983, a person with Down syndrome lived to be only 25 years old on average. Today, the average life expectancy of a person with Down syndrome is nearly 60 years and continuing to climb. Read More

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Rare Disease: Finding Answers for Patients with Mysterious Conditions

Feb 26, 2021

For a disease to be considered “rare,” fewer than 200,000 people in the United States will be affected by it. Some rare genetic disorders can be very difficult to diagnose, and for parents of a child with a rare disease, one of the most anxious times is the period of waiting for a diagnosis. Read More

Research looking into a microscope

What Parent’s Need to Know About Genetic Testing

Feb 29, 2020

Genetic testing can help doctors look for changes in genes that can cause diseases or disorders. It can also provide families with more information about long-term needs, health care needs, and future family planning. Read More