How Can I Find a Genetics Professional in My Area?
To find a genetics professional in your community, you may wish to ask your doctor for a referral. If you have health insurance, you can also contact your insurance company to find a medical geneticist or genetic counselor in your area who participates in your plan. ... read more »
What are the Types of Genetic Tests?
Genetic testing can provide information about a person's genes and chromosomes. ... 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 »
How are Genetic Conditions Treated or Managed?
Many genetic disorders result from gene changes that are present in essentially every cell in the body. As a result, these disorders often affect many body systems, and most cannot be cured. ... read more »
What do the Results of Genetic Tests Mean?
The results of genetic tests are not always straightforward, which often makes them challenging to interpret and explain. ... read more »
How are Genetic Conditions and Genes Named?
Genetic conditions are not named in one standard way (unlike genes, which are given an official name and symbol by a formal committee). Doctors who treat families with a particular disorder are often the first to propose a name for the condition. ... read more »
What Does it Mean if a Disorder Seems to Run in My Family?
A particular disorder might be described as 'running in a family' ifmore than one person in the family has the condition. Some disordersthat affect multiple family members are caused by gene mutations, whichcan be inherited (passed down from parent to child). ... read more »
Will Health Insurance Cover the Costs of Genetic Testing?
In many cases, health insurance plans will cover the costs ofgenetic testing when it is recommended by a person's doctor. Healthinsurance providers have different policies about which tests arecovered, however. ... read more »
What are Reduced Penetrance and Variable Expressivity?
Reduced penetrance and variable expressivity are factors that influence the effects of particular genetic changes. These factors usually affect disorders that have an autosomal dominant pattern of inheritance. ... read more »
What do Geneticists Mean by Anticipation?
The signs and symptoms of some genetic conditions tend to become more severe and appear at an earlier age as the disorder is passed from one generation to the next. This phenomenon is called anticipation. ... read more »
What are Genomic Imprinting and Uniparental Disomy?
Genomic imprinting and uniparental disomy are factors that influence how some genetic conditions are inherited. ... read more »
Are Chromosomal Disorders Inherited?
Although it is possible to inherit some types of chromosomal abnormalities, most chromosomal disorders (such as Down syndrome and Turner syndrome) are not passed from one generation to the next. ... read more »
What is a Genetic Consultation?
A genetic consultation is a health service that provides information and support to people who have, or may be at risk for, genetic disorders. ... read more »
Why Might Someone Have a Genetic Consultation?
Individuals or families who are concerned about an inherited condition may benefit from a genetic consultation. The reasons that a person might be referred to a genetic counselor, medical geneticist, or other genetics professional include: ... read more »
What Happens During a Genetic Consultation?
A genetic consultation provides information, offers support, andaddresses a patient's specific questions and concerns. To help determine whether a condition has a genetic component, a genetics professionalasks about a person's medical history. ... read more »
How are Genetic Conditions Diagnosed?
A doctor may suspect a diagnosis of a genetic condition on the basis of a person's physical characteristics and family history, or on theresults of a screening test. ... 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 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 »
Gene Therapy ... 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 »
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 Benefits of Genetic Testing?
Genetic testing has potential benefits whether the results are positive or negative for a gene mutation. Test results can provide a sense of relief from uncertainty and help people make informed decisions about managing their health care. ... 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 the Risks and Limitations of Genetic Testing?
The physical risks associated with most genetic tests are very small, particularly for those tests that require only a blood sample or buccal smear (a procedure that samples cells from the inside surface of the cheek). ... 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 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 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 »
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 Gene Therapy?
Gene therapy is an experimental technique that uses genes to treator prevent disease. In the future, this technique may allow doctors totreat a disorder by inserting a gene into a patient's cells instead ofusing drugs or surgery. ... 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 »
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 »
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 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 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 »
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 »
Clotting Disorders or Thrombophilias
Clotting disorders is a blanket term used to describe a series of disorders that cause excessive clotting. Excessive clotting leads to the formation of blood clots in the blood stream. Another name for clotting disorders is thrombus. ... read more »
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 »
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 »
3-Person IVF: Good Medicine or Designer Baby?
The possibility of using genetic material from three people for a single in vitro fertilization (IVF) attempt is getting mixed reviews in the scientific community in the United Kingdom, United States and in the general population. ... read more »
Angelina Jolie Trades Breasts for Life
After watching her mother battle cancer for nearly 10 years, Angelina Jolie chose to reduce her risk of facing the same fate, by getting an elective double mastectomy. ... 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 »
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 »
Emerging 3-Parent IVF May be Harmful to Baby
About one person in every 4,000 is affected with a mitochondrialdisease, passed down through the mother's bloodline. Symptoms, including minor learning disabilities, can be mild but they can be tragicallysevere, too. ... read more »
Embryo Adoption Adds New Twist to Adopting a Child
The terms embryo adoption and embryo donation are often used interchangeably but some state laws attach specific definitions to them and require state-sanctioned regulations and uses. ... read more »
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 »
Coarctation of the Aorta
A coarctation of the aorta is diagnosed when a portion of the aorta is narrowed making it difficult for blood to pass through the major artery. The aorta is responsible for moving blood out of the heart to the blood vessels. ... 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 »
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 »
Male Diseases Affecting Male Fertility
Researchers in the United States and Mexico recently completed a study on the impact of male diseases that cause various sperm-related issues that affect fertility. The study was published in the journal Current Opinions in Obstetrics and Gynecology. ... 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 »