Understanding Genetics

This "Help Me Understand Genetics" section is from the NLM and presents basic information about genetics in clear language and provides links to online resources. ... read more »

Genetic Testing to Prevent Fatal Brain Disease in Children

A 27-year-old woman wanted to have children but she did not want her children to live as she does, knowing she is genetically inclined to develop a very rare crippling brain disease. ... read more »

Should Newborn Screening Protocols Include Genome Sequencing?

Researchers at McGill University in Montreal, Canada, question the value of including genome sequencing to the standard regimen of tests given to newborn babies. ... read more »

Link Between Childhood Leukemia and a Genetic Mutation

A recent study of the genomes of children with a rare form of acute lymphoblastic leukemia (ALL) found that this particular genetic mutation increases a child's risk of cancer by 2,700 times. ... read more »

International Study Recommends Ovary Removal by Age 35

For women who carry the BRCA1 gene mutation, the odds of getting ovarian cancer are 39 for every 100 BRCA+ women. Once disease develops, preventive ovary removal surgery by age 35 is the best defense. ... read more »

Genetic Similarity Between Autism and Schizophrenia

New discoveries of genetic mutations link autism, schizophrenia, certain seizure disorders, and certain intellectual disabilities as stemming from a common origin. ... read more »

Why Does a Miscarriage Occur?

The American College of Obstetricians and Gynecologists estimate up to 25% of pregnancies will end in pregnant miscarriage, but why does pregnant miscarriage occur? ... read more »

Which Genes Will Your Baby Inherit?

When I was born, I was lucky enough to get my dad’s recessive blue eyes. This doesn’t happen too often though, which always gets people guessing about which traits their baby will ultimately inherit. ... read more »

Why are Some Genetic Conditions Common in Particular Ethnic Groups?

Some genetic disorders are more likely to occur among people who trace their ancestry to a particular geographic area. People in an ethnic group often share certain versions of their genes, which have been passed down from common ancestors. ... read more »

What is the Cost and How Long is the Genetic Testing?

The cost of genetic testing can range from under $100 to more than $2,000, depending on the nature and complexity of the test. ... read more »

How Does Genetic Testing in a Research Setting Differ From Clinical Genetic Testing?

The main differences between clinical genetic testing and research testing is the purpose of the test and who receives the results. ... read more »

Can Changes in Chromosomes Affect Health and Development?

Human cells normally contain 23 pairs of chromosomes, for a total of 46chromosomes in each cell. A change in the number of chromosomes can cause problems with growth, development, and function of the body's systems. ... read more »

Living with Congenital Heart Disease

Some congenital heart disease conditions are mild enough to be left untreated without reducing lifespan or quality of life, though there are lifestyle changes and health care that must be taken into consideration. If the condition worsens, at any time, further medical treatment may be needed. ... read more »

Gene Manipulation May Overcome Infertility Caused by Cancer Treatments

Researchers at Cornell University in Ithaca, New York, have found a way to reverse the damage done to the immature eggs (oocytes) of female mice exposed to radiation. ... read more »

How an Extra Chromosome Changes Entire Genome of Twins

Dr. Stylianos Antonarakis and his international team of researchers had the rare opportunity to study the genomes of identical twins where one twin had Down syndrome and the other did not. ... read more »

Jewish Genetic Diseases

There are nearly 4,000 genetic diseases known that afflict the world's population. Certain genetic diseases occur at higher frequencies among certain ethnic, racial, or demographic groups. ... read more »

Child Height Calculator: How Tall Will Your Baby Be?

Will your baby be tall? Doting parents often wonder just how tall their little ones will grow to be. According to Dr. Alex Roche, adult height can be predicted using a simple mathematical equation. ... read more »

BPA Exposure Affects Up to Four Generations of Offspring

While animal studies are not often comparable to human studies, they can tell us a bit about how the body works and what to expect or look for in human studies. A recent study provided some very interesting information on BPA or Bisphenol A. ... read more »

Microarray More Accurate Than Karyotyping

Genetic testing is an important part of diagnosing and treating chromosomal abnormalities. Currently, karyotyping is the most prevalent form of prenatal genetic testing, but the results of microarray testing appear to be more accurate. ... read more »

Walker Warburg Syndrome

WWS, also known as Walker Warburg Syndrome, is a genetic condition passed on to children of parents with two recessive genes. Both parents must have the recessive gene for children to be born with the condition. ... read more »

Spinal Muscular Atrophy

Spinal Muscular Atrophy is a genetic disorder that affects motor neurons. The protein needed to keep these motor neurons alive is not coded correctly by the SMN1 gene. ... read more »

Familial Hyperinsulinism

Familial Hyperinsulinism affects insulin levels, which in turn affects blood glucose levels. Patients with the condition release too much insulin. Too much insulin causes blood glucose levels to drop, leading to hypoglycemia. ... read more »

Familial Dysautonomia

Familial Dysautonomia, also known as Riley-Day syndrome, affects the development and function of nerves throughout the body. ... read more »

Introduction to Breast Cancer: Causes and Risk Factors

Breast cancer is the most common type of cancer in women and the second leading cause of cancer related deaths, next to lung cancer. ... read more »

Designer Babies Could be Tested to Perfection

With the development and perfection of genetic testing, every chromosome in the human body can be tested for faults and defects. This testing can and does take place while the fetus is in-utero, so what is stopping couples from aborting a fetus because chromosomal testing reveals an imperfection? ... read more »

D-Loop Genotyping May Predict Endometriosis Risk

Researchers in India recently published a study in the journal Fertility and Sterility supporting D-Loop genotyping to predict risk of endometriosis. ... read more »

Genetic Mutations Linked to Paternal Age

Hollywood stars are known for waiting later in life to start families, but researchers say men who wait longer may be increasing the risk of passing genetic mutations like autism on to offspring. ... read more »

Congenital Adrenal Hyperplasia (CAH), Fertility and Pregnancy

CAH or congenital adrenal hyperplasia is a disease caused by gene mutation. The condition affects cortisol, cholesterol and adrenal gland function. All CAH patients have some level of impaired fertility. ... read more »

BRCA Mutation

BRCA1 and BRCA2 mutations are not gender specific and can affect both men and women. A genetic counselor can discuss with you your individual risks and recommend certain methods of genetic testing. ... read more »

Study Uncovers Genetic Cause of Premature Ovarian Failure

An in-depth study of the genomes of the members of a family who all share a common ancestor has revealed a genetic cause for premature ovarian failure (POF). ... read more »

Will Your Baby Have Dimples?

Let’s face it — dimples are adorable. When a little kid smiles with those expressive indentations on both cheeks, it’s hard not smile yourself from the innocence and sweetness you see. ... read more »

Gene Expression, Not Mutation, Linked to Endometriosis

A new study of the genetics of endometriosis may prove to be a turning point in how the disease is diagnosed and treated. ... read more »

Journalist Ponders Egg Donation and Motherhood

Amy Klein and her husband, Solomon, want to have a baby but they'refinding out that actually having one isn't as easy as merely wantingone. ... read more »

BPA Could Increase Down Syndrome Risk in Unborn Fetus

BPA, or Bisphenol A, is an ingredient in some plastics and other household items. The chemical has been in the news for more than a year thanks to several research studies proving negative side effects on the fetal level with maternal exposure. ... read more »

Customizing Genes Through Designer Sperm

Scientists have brought us a step closer to stopping genetic diseases before they pass from one generation to the next. ... read more »

Comprehensive Embryo Testing

The future of embryo testing may include complete genetic profiles aiming to predict the possibility of contracting or developing genetic diseases. ... read more »

Barth Syndrome: Disease Characteristics and Growth Data

Barth Syndrome is a rare genetic disorder only associated with the X chromosome. The condition affects growth and causes cardiomyopathy and neutropenia. The study included males with an official diagnosis of Barth Syndrome (BTHS). ... read more »

Positive Parenting and Newborns with Cystic Fibrosis

Recruiting newborns into cystic fibrosis studies is important to research, but there are no studies into how parents feel about including their recently diagnosed newborns in treatment studies. ... read more »

Genetic Variations in Infants with Neonatal Abstinence Syndrome (NAS)

NAS is caused by opioid-dependence during pregnancy. Researchers revealed a connection between genetic variants in newborns with the condition, length of hospital stay and necessary treatment. ... read more »

Congenital CHARGE Disorder

In 1979, Dr. BD Hall was the first to describe CHARGE disorder. The name CHARGE is an acronym for the effects of the disorder on the body. ... read more »

Chinese May Have New Answer to Genetic Testing

Testing for potential genetic problems typically requires piercing the abdomen and amniotic sac to collect a tissue sample from the fetus. Researchers in China may have found an alternative to invasive prenatal testing. ... read more »

How Do I Know When to Get Pregnant?

Women often want to know when to get pregnant, but the answer is not as clear cut as some would like. ... read more »

Doctors Link Pregnancy and Weight Gain to Obese Children

We all have friends who think pregnancy is the time of life when they can eat what they want, when they want. Recent research notes that excessive weight gain during pregnancy may lead to an increased risk of obesity in children. ... read more »

Heterochromia and Pregnancy

Heterochromia is a genetic or acquired eye condition that affects the iris. There are three forms of the condition: complete, sectoral and central. ... read more »

What Is A Gene Mutation and How Do They Happen?

How does a gene mutation happen? Are gene mutations rare? ... read more »

Will Your Baby’s Eyes Stay Blue?

I come from a blue-eyed, brown-haired family. Every person in my immediate lineage —cousins, aunts, uncles, and grandparents — has blue eyes and curly brown hair. ... read more »

Placenta Testing Reveals Possible Preeclampsia Marker

Researchers testing placentas after infant births may have found a gene marker. The gene is associated with the immune system and may be the cause of some cases of preeclampsia. ... read more »

Genetic Factors in Infertility Identified

A genetic factor may predict an inability to conceive in men. At the heart of the research findings was the meiosis expressed gene 1, or MEIG1. ... read more »

Fetal DNA Pulled from Mom’s Blood

According to a study published in the journal Nature, mom's blood may hold the key to DNA and genetic testing. This study could be the first step in making genetic testing a part of prenatal care for all women. ... read more »

RNA in Bloodstream Provide Dynamic "Video" of Life in the Womb

Researchers at Stanford University in California have developed a test that uses a small sample of a pregnant woman's blood to monitor the RNA activity of a fetus throughout pregnancy. ... read more »

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