According to the World Health Organization (WHO): Genetics is the study of heredity, while Genomics is defined as the study of genes and their functions, and related techniques. Genomics is a relatively new term, being used more frequently since the mid-1990's. The main difference between genomics and genetics is that genetics scrutinizes the functioning and composition of the single gene whereas genomics addresses all genes and their inter relationships in order to identify their combined influence on the growth and development of the organism.
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 »
Neiman Pick Disease
Neiman Pick disease is a group of genetic diseases. There are five types of the disease, types A, B, C, D and E. Each type of Neiman Pick affects different organs, but all affect cholesterol storage, fat storage or both. ... read more »
Fanconi Anemia is a genetic disorder that affects the bone marrow'sability to produce new or healthy red blood cells. Both parents mustcarry the affected gene to pass the disorder onto their children. ... read more »
Familial Mediterranean Fever
Familial Mediterranean Fever (FMF) is a genetic disorder passed down from parents to children. The disease causes high fevers and bouts of inflammation. ... read more »
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 »
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 »
Müllerian agenesis - Mayer–Rokitansky–Küster–Hauser Syndrome
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a disorder that occurs in females and mainly affects the reproductive system. ... read more »
Factor XI Deficiency
Factor XI deficiency is a blood clotting disorder similar to hemophilia. There is a wide variance in symptoms with mild, moderate and severe cases. ... read more »
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 »
Genetics, Genomics, and Pregnancy
Genetics is the science of inheritance, how traits such as hair color, eye color, and risk for disease are passed (“inherited”) from parents to their children. ... read more »
Klinefelter Syndome 47, XXY
What is Klinefelter syndrome? Klinefelter syndrome is a set of symptoms named after Dr. Harry Fitch Klinefelter, Jr. who was an American rheumatologist and endocrinologist. ... read more »
Bloom Syndrome is a rare genetic disorder first recognized and described by Dr. David Bloom. Another name for Bloom Syndrome is Bloom-Torre-Machacek Syndrome. ... read more »
Antiphospholipid syndrome, also referred to as Hughes syndrome, is a condition of the immune system that causes blood clotting and other complications. ... read more »
Canavan Disease is a genetic disorder commonly found in Ashkenazi Jews. The disease causes a premature breakdown of white matter in the brain. The disease is associated with chromosome 17. ... read more »
Machado Joseph Disease
Machado Joseph disease is a genetic disorder affecting muscle movement and development. Unlike many other genetic diseases, only one parent needs to carry the gene to pass the condition onto children. ... read more »
Tay Sachs Disease
Tay Sachs disease is caused by a defective gene on the 15th chromosome. Both parents must have the defective gene to pass the active disease to a child. If both parents carry the defective gene, children have a 25% chance of having an active form of Tay Sachs. ... read more »
Joubert Syndrome is a condition caused by a malformation of the brain. The condition can be passed from parents to children. To be inherited, parents must possess multiple recessive mutated genes. ... read more »
Glycogen Storage Disorder
The term Glycogen Storage Disorder is used to describe a collection of genetic diseases that affect how glucose is converted to glycogen or how glycogen is broken down into glucose. ... read more »
Merlob Grunebaum Reisner Syndrome
Familial opposable triphalangeal thumbs duplication: A rare birth malformation where the thumb has three bones instead of the normal two which gives it a fingerlike appearance. An extra toe is also present. ... read more »
What is a Cell?
Cells are the basic building blocks of all living things. The human body is composed of trillions of cells. They provide structure for the body, take in nutrients from food, convert those nutrients into energy, and carry out specialized functions. ... read more »
Jewish Genetic Disorder: Mucolipidosis IV
Mucolipidosis IV is a rare genetic disorder passed down from parents to children. Both parents must carry the recessive gene for children to be affected. About 95% of people with Mucolipidosis IV have the typical or severe strain. ... read more »
Fabry Disease is a genetic disorder passed along to children from the mother. The gene for the disorder is carried on the X chromosome. ... read more »
Torsion Dystonia is a progressive genetic disorder that causes painful and debilitating muscle contractions. The most common form of the disease is early-onset with symptoms appearing in childhood. ... read more »
Lipoamide Dehydrogenase Deficiency
Lipoamide Dehydrogenase Deficiency is an extremely rare disease often referred to as E3. The condition is inherited. Due to the extreme rarity of the condition, significant medical information and treatment options are lacking. ... read more »
Maple Syrup Urine Disease
Maple Syrup Urine Disease is a genetic disorder. The most noticeable symptom of the condition is sweet scented urine that may smell similar to maple syrup. The disease prevents the body from breaking down amino acids effectively. ... read more »
Nemaline Myopathy is a non-progressive neuromuscular disease that affects muscle strength and development. This condition is one of the 40 diseases currently covered by the MDA (Muscular Dystrophy Association). ... read more »
Usher Syndrome is a relatively common genetic disorder that primarily affects vision and hearing. In some cases, children with a severe form of the disorder are born with substantial balance problems that affect motor coordination. ... read more »
What is DNA?
DNA, or deoxyribonucleic acid, is the hereditary material in humans andalmost all other organisms. Nearly every cell in a person's body has the same DNA. Most DNA is located in the cell nucleus (where it is callednuclear DNA). ... read more »
What is Mitochondrial DNA?
Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small amount of their own DNA. This genetic material is known as mitochondrial DNA or mtDNA. ... read more »
What is a Gene?
A gene is the basic physical and functional unit of heredity. Genes, which are made up of DNA, act as instructions to make molecules called proteins. In humans, genes vary in size from a few hundred DNA bases to more than 2 million bases. ... read more »
What is a Chromosome?
In the nucleus of each cell, the DNA molecule is packaged into thread-like structures called chromosomes. Each chromosome is made up of DNA tightly coiled many times around proteins called histones that support its structure. ... read more »
How Many Chromosomes do People Have?
In humans, each cell normally contains 23 pairs of chromosomes, for a total of 46. Twenty-two of these pairs, called autosomes, look the same in both males and females. The 23rd pair, the sex chromosomes, differ between males and females. ... read more »
What are Proteins and What Do They Do?
Proteins are large, complex molecules that play many critical roles inthe body. They do most of the work in cells and are required for thestructure, function, and regulation of the body's tissues and organs. ... read more »
How Can Gene Mutations Affect Health and Development
To function correctly, each cell depends on thousands of proteins to do their jobs in the right places at the right times. Sometimes, gene mutations prevent one or more of these proteins from working properly. ... read more »
Do All Gene Mutations Affect Health and Development?
No; only a small percentage of mutations cause genetic disorders'mosthave no impact on health or development. For example, some mutationsalter a gene's DNA sequence but do not change the function of theprotein made by the gene. ... read more »
Can Genes be Turned On and Off in Cells?
Each cell expresses, or turns on, only a fraction of its genes. The rest of the genes are repressed, or turned off. The process of turning genes on and off is known as gene regulation. Gene regulation is an important part of normal development. ... read more »
What is the Epigenome?
DNA modifications that do not change the DNA sequence can affect gene activity. Chemical compounds that are added to single genes can regulate their activity; these modifications are known as epigenetic changes. ... read more »
How Genes Work
How Genes Work ... read more »
How do Cells Divide?
There are two types of cell division: mitosis and meiosis. Most of thetime when people refer to 'cell division,' they mean mitosis, theprocess of making new body cells. Meiosis is the type of cell divisionthat creates egg and sperm cells. ... read more »
How do Genes Control the Growth and Division of Cells
A variety of genes are involved in the control of cell growth anddivision. The cell cycle is the cell's way of replicating itself in anorganized, step-by-step fashion. ... read more »
How do Geneticists Indicate the Location of a Gene?
Geneticists use maps to describe the location of a particular geneon a chromosome. One type of map uses the cytogenetic location todescribe a gene's position. ... read more »
What are Gene Families?
A gene family is a group of genes that share important characteristics. In many cases, genes in a family share a similar sequence of DNA building blocks (nucleotides). ... 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 Kinds of Gene Mutations are Possible?
The DNA sequence of a gene can be altered in a number of ways. Gene mutations have varying effects on health, depending on where they occur and whether they alter the function of essential proteins. ... 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 »