Genetic Conditions
The overarching lesson that came from the completion of the Human Genome Project was that DNA is not destiny. But too often, for those living with untreatable inherited conditions, it can still feel that way - Misha Angrist

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What’s Behind Many Mystery Ailments? Genetic Mutations, Study Finds
Gregor Mendel discovered fundamental rules of genetics by raising pea plants. He realized that hidden factors — we now know them to be genes — were passed down from parents to offspring.
It wasn’t until the early 1900s, long after Mendel’s death, that doctors discovered that humans weren’t so very different. Some diseases, it turns out, are inherited — they’re Mendelian.
Today, scientists have identified over 7,000 Mendelian diseases, and many are discovered with screenings of children and adults. But a new study suggests that many disorders go undetected.
Resources
List of Genetic Disorders
This list of genetic, orphan and rare diseases is provided for informational purposes only and is by no means comprehensive.
One in five 'healthy' adults may carry disease-related genetic mutations
Two new studies feed the debate over whether genome sequencing should be key part of primary care.
We Don’t Want to Know What Will Kill Us
Years of data on genetic testing reveal that when given the option, most people want less information, not more.
Why we don’t know what causes most birth defects
The development of a baby, from the time of fertilisation through to the moment of birth, is an incredibly complex journey. Most of the time the result is a perfect new baby. However, in about 3% of babies mistakes happen and a birth defect occurs. This is when an anatomical difference has come about as the baby develops in the womb.
A Battle Plan for a War on Rare Diseases
Dr. Matthew Might is developing a strategy for people seeking treatments for little-known ailments.
Abortion and inherited disease: Genetic disorders complicate the view that abortion is a choice
Few enter into pregnancy with the idea that something could go wrong with fetal development, but approximately one in 25 infants are born with a birth defect. And as a medical geneticist, I would like to focus on the much higher risk (often one in four) of recurrence of an inherited disease.
Adults with Genetic Disorders
Many genetic disorders are identified and diagnosed at birth or during childhood. When diagnosed individuals reach adulthood, they will receive care at adult genetic clinics. Some individuals are diagnosed with a genetic condition as an adult
Clinical Genetics Has a Big Problem That's Affecting People's Lives
Unreliable research can lead families to make health decisions they might regret.
Congenital diseases reveal a lot about human biology
Genomics makes the diagnosis of such diseases, especially the rare ones, easier and more precise, and it has revealed what is going on in some of them in useful ways. It has not yet, though, provided much by way of cures. Now this is beginning to change.
Discovering the Unseen Risks of Genetic Diseases
When people learn they are carriers for a genetic disease, doctors usually focus on the potential risk of having a child with the disorder. But, increasingly, researchers are finding that being a carrier itself can lead to serious health problems. Carriers of Gaucher disease, for example, don't have the enzyme-deficiency disorder that can cause lung disease, anemia and arthritis. They do, though, have a risk of developing Parkinson's disease that is more than five times greater than the general public...
Families Isolated By Rare Genetic Conditions Find New Ways To Reach Out
The journey of Milo Lorentzen reveals what Dr. Christian Schaaf, a geneticist and assistant professor at Baylor College of Medicine, says are two major inadequacies in genetic medicine — the absence of support for families whose kids are ill but don't yet have a diagnosis, and the lack of a clearinghouse where families and researchers can find one another.
Genetic Conditions and Inheritance
A genetic disorder is a disease caused in whole or in part by a change in the DNA sequence away from the normal sequence. An x-shaped chromosome is made up of tightly wound strands of DNA. DNA has smaller sections, called genes, which can "code" for physical traits. The Gene is the basic physical unit of inheritance.
Genetic disorders: 'It is devastating to watch your child lose every ability'
But even with the latest gene sequencing technology, the majority of children on the DDD project remain undiagnosed for now. Part of the reason is that at present 80% of our genes have no known role in disease. So if a mutation is found in one of those, scientists currently have no way of knowing how to interpret it.
How Data-Wranglers Are Building the Great Library of Genetic Variation
A huge project unexpectedly led to a way of finding disease genes without needing to know about diseases.
In genetic disease, who has the right to know—or not know—what?
Cases in Britain and Germany are at odds with each other.
Life with a Rare Genetic Disease: The Science, the Suffering and the Hope
If life can be a Hobbesian trial — “nasty, brutish and short” — then for adults with rare genetic diseases, life can sometimes be nasty, brutish and long. Take the ordinary difficulties of getting through the day and add, for example, loss of motor function, a deteriorating memory or a blocked vein in the liver and a body so swollen with lymphatic fluid that clothes and shoes no longer fit. Now throw in lack of a diagnosis and dwindling financial resources.
Photographer Quits Fashion To Photograph People With Genetic Conditions To Show Beauty Is Everywhere
Rick Guidotti is a fashion photographer bored with high fashion. That’s why he started photographing people with genetic conditions – and the documentary “On Beauty” is all about his work. Guidotti felt that the standards of the industry are too narrow. After a chance meeting with a woman with albinism, he decided to seek out other people with genetic conditions and use his photography skills to humanize them.
Researchers shatter the speed record for diagnosing rare genetic diseases with DNA sequencing
About a year ago, Matthew Kunzman’s heart was failing, despite doctors’ best attempts to bolster it with every pump and gadget they could think of. But the 14-year-old has bounced back in large part due to super-speedy genetic sequencing that pinpointed the cause of his disease and helped doctors decide how to treat it — in just 11 and a half hours.
Scientists Are Trying to Prove that Addiction Is a Genetic Disease
"There are the genes that control stress, genes that affect drug metabolism, and genes that affect how readily an addiction forms."
The Surprising Legacy of a Genetic Disorder
Research on fragile X syndrome shows that even people who don’t have the disease can be shaped by it in deeply personal ways
The Wilderness of Rare Genetic Diseases and the Parents Navigating It
“Rare parents” are often left charting a world of unknowns. But their persistence has paid off with more advanced treatment options.
What if we could treat the root cause of genetic diseases?
In some ways, the human body is like a house. You hope to live in it for a long time. You do your best to take care of it and to prevent damage. And yet sometimes, for reasons beyond our control, there’s an issue in the plan and you wind up spending your life managing its effects. But what if you could go back to the original blueprint and address the root cause of the problem?
What is a ‘serious’ genetic condition? The perceptions of people living with genetic conditions
As an era of targeted genetic testing gives way to global mainstreaming of high output genomic sequencing, important decisions need to be made regarding which genetic variants, associated with which conditions, are considered ‘worth knowing
When Genetic Diseases Threaten Patient Privacy
Do children have a right to their parents’ medical information?
When You Have a Serious Genetic Disease, Who Has the Right to Know?
One woman is suing her father’s doctor for not disclosing that he has a fatal, heritable condition.
You can’t control your height, but 12,000 genetic variants probably do
Genes aren't the only predictors of height: The environment is a major player, too.
What’s Behind Many Mystery Ailments? Genetic Mutations, Study Finds
With a database of electronic health records and DNA samples, a team of scientists has found that 3.7 percent of patients in a hospital system carried a genetic variant linked to a disease. It’s possible that as many as 4.5 percent of cases of apparently nongenetic diseases, from infertility to kidney failure, are the result of such mutations.
5,500 people diagnosed with rare genetic disorders in major UK and Ireland study
About 5,500 people with severe developmental disorders now know the genetic cause of their condition thanks to a major study that will be used to improve the speed and accuracy of NHS diagnoses.
GARD
The Genetic and Rare Diseases (GARD) Information Center is a public health resource aiming to support people living with a rare disease and their caregivers by providing access to easy-to-understand information that is free and reliable.
MyGene2
Use MyGene2 to search for and contact other families who have the same condition or mutations in the same gene to share information and offer support
NORD
NORD was first national nonprofit to represent all individuals and families affected by rare disease. Today we’re the only organization working at the intersection of care, research, policy and community for all rare diseases.
Probably Genetic
Rare genetic conditions can take years for doctors to diagnose. #ProbablyGenetic is a personalized healthcare company working to help you find answers.
MedicineNet
A genetic disease is any disease caused by an abnormality in the genetic makeup of an individual. The genetic abnormality can range from minuscule to major -- from a discrete mutation in a single base in the DNA of a single gene to a gross chromosomal abnormality involving the addition or subtraction of an entire chromosome or set of chromosomes.

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