Human Genome Project: Ethical, Legal, and Social Implications

The Ethical, Legal, and Social Implications (ELSI) program was founded in 1990 as an integral part of the Human Genome Project. ... read more »

What Was the Human Genome Project?

The Human Genome Project was an international research effort to determine the sequence of the human genome and identify the genes that it contains. The Project was coordinated by the National Institutes of Health and the U.S. Department of Energy. ... read more »

How Is a Genetic Condition Inherited?

Some genetic conditions are caused by mutations in a single gene. These conditions are usually inherited in one of several straightforward patterns, depending on the gene involved. ... read more »

The Likelihood of Genetic Disorders

When a genetic disorder is diagnosed in a family, family members often want to know the likelihood that they or their children will develop the condition. ... read more »

Research Setting Vs. Clinical Genetic Testing

The main differences between clinical genetic testing and research testing are the purpose of the tests and who receives the results. ... 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 »

Genomic Research

Genomic Research ... read more »

"Designer Baby" Patent a Bioethical Concern

A group of bioethicists has gone on record for speaking out against a controversial patent that could lead to the development of 'designerbabies'. ... read more »

What Do Statistics Reveal About Genetic Conditions?

Statistical data can provide general information about how common a condition is, how many people have the condition, or how likely it is that a person will develop the condition. Statistics are not personalized, however, they offer estimates based on groups of people. ... read more »

How Chromosome Structure Affects Health and Development

Changes that affect the structure of chromosomes can cause problems with growth, development, and function of the body's systems. These changes can affect many genes along the chromosome and disrupt the proteins made from those genes. ... read more »

How Mitochondrial DNA Affects Health and Development

Mitochondria are structures within cells that convert the energy from food into a form that cells can use. Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small amount of their own DNA. ... read more »

Can Number of Genes Affect Health and Development?

People have two copies of most genes, one copy inherited from each parent. In some cases, however, the number of copies varies'meaning that a person can be born with one, three, or more copies of particular genes. ... read more »

Primary Ovarian Insufficiency Linked to Gene Mutation

A team of researchers at Tel Aviv University in Israel has recently discovered a link between premature ovarian failure (POF) and a specific gene mutation. ... read more »

Blood Test for Pregnant Women Shows RNA Activity in Fetus

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 »

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 »

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 »

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 »

Spina Bifida

Spina bifida is a neural tube defect. The neural tube develops in the first weeks of pregnancy and closes by the end of the first month. Spina bifida develops when the neural tube does not close properly. ... 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 »

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 »

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 »

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 Pharmacogenomics?

This relatively new field combines pharmacology (the science of drugs)and genomics (the study of genes and their functions) to developeffective, safe medications and doses that will be tailored to aperson's genetic makeup. ... read more »

What are the Types of Genetic Tests?

Genetic testing can provide information about a person's genes and chromosomes. ... read more »

What Would You Do If Genetic Testing Revealed Future Illness?

What would you do if genetic testing revealed future catastrophic illness for yourself or a child? Would you want to know? ... read more »

FDA Says Stop Selling 23andMe DNA Tests

More than half a million customers have had their blood tested but the US Food and Drug Administration (FDA) says enough already. The federal agency governing medical devices has recently issued a warning letter to the product's manufacturer. ... read more »

PKU – Phenylketonuria

Phenylketonuria or PKU is a genetic condition preventing the body from breaking down the amino acid phenylalanine and two similar substances commonly found in protein. PKU causes a build-up of the amino acid, which can lead to developmental delay. ... read more »

Chromosomal Testing on IVF Embryos - Should You Do It?

Chromosomal testing on IVF embryos is not usually a regular part of the IVF process. However, some fertility specialists are offering it to couples who hope to use it to increase their chances of transferring a healthy, strong embryo to the woman's uterus. ... read more »

Aniridia

Aniridia is a congenital eye disorder also referred to as iris hypoplasia. At first glance, patients with aniridia appear to have no iris (colored part of the eye), but a closer look reveals the root of the iris. ... read more »

Mitochondrial Diseases in Children a Thing of the Past?

Researchers from the NYSCF (New York Stem Cell Foundation) partnered with CUMC (Columbia Medical Center) to create a special technique to stop mitochondrial diseases from genetically passing on to children. The technique is in the earliest clinical stages. ... read more »

What Did the Human Genome Project Accomplish?

In April 2003, researchers announced that the Human Genome Project had completed a high-quality sequence of essentially the entire human genome. This sequence closed the gaps from a working draft of the genome, which was published in 2001. ... read more »

What Advances are Being Made in DNA Sequencing?

Determining the order of DNA building blocks (nucleotides) in anindividual's genetic code, called DNA sequencing, has advanced the study of genetics and is one method used to test for genetic disorders. ... read more »

What is the Encyclopedia of DNA Elements (ENCODE) Project?

The ENCODE Project was planned as a follow-up to the Human Genome Project. The Human Genome Project sequenced the DNA that makes up the human genome; the ENCODE Project seeks to interpret this sequence. ... read more »

What is the International HapMap Project?

The International HapMap Project is an international scientific effort to identify common genetic variations among people. This project represents a collaboration of scientists from public and private organizations in six countries. ... read more »

What are Genome-wide Association Studies?

Genome-wide association studies are a relatively new way for scientists to identify genes involved in human disease. ... read more »

What are Single Nucleotide Polymorphisms (SNPs)?

Single nucleotide polymorphisms, frequently called SNPs (pronounced'snips'), are the most common type of genetic variation among people.Each SNP represents a difference in a single DNA building block, called a nucleotide. ... read more »

What are the Next Steps in Genomic Research?

Discovering the sequence of the human genome was only the first step in understanding how the instructions coded in DNA lead to a functioning human being. The next stage of genomic research will begin to derive meaningful knowledge from the DNA sequence. ... read more »

The Human Genome Project

The Human Genome Project ... read more »

What Were the Goals of the Human Genome Project?

The main goals of the Human Genome Project were to provide a complete and accurate sequence of the 3 billion DNA base pairs that make up the human genome and to find all of the estimated 20,000 to 25,000 human genes. ... read more »

What is a Genome?

A genome is an organism's complete set of DNA, including all of itsgenes. Each genome contains all of the information needed to build andmaintain that organism. ... read more »

Gene Therapy

Gene Therapy ... read more »

Is Gene Therapy Available to Treat My Disorder?

Gene therapy is currently available only in a research setting. The U.S. Food and Drug Administration (FDA) has not yet approved any gene therapy products for sale in the United States. ... read more »

What are the Ethical Issues Surrounding Gene Therapy?

Because gene therapy involves making changes to the body's set of basicinstructions, it raises many unique ethical concerns. ... read more »

Is Gene Therapy Safe?

Gene therapy is under study to determine whether it could be used to treat disease. Current research is evaluating the safety of gene therapy; future studies will test whether it is an effective treatment option. ... read more »

How Does Gene Therapy Work?

Gene therapy is designed to introduce genetic material into cells to compensate for abnormal genes or to make a beneficial protein. ... read more »

What is Genetic Ancestry Testing?

Genetic ancestry testing, or genetic genealogy, is a way for people interested in family history (genealogy) to go beyond what they can learn from relatives or from historical documentation. ... read more »

What is Genetic Discrimination?

Genetic discrimination occurs when people are treated differently by their employer or insurance company because they have a gene mutation that causes or increases the risk of an inherited disorder. ... read more »

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