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

Genetic Conditions

image by: Mark Zuckerberg

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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.

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Resources

 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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