Chapter 1 Online quizzes

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In Europe, a rare disease is currently classed as one that affects:

Fewer than 1 in 100 individuals correct incorrect

Fewer than 1 in 1,000 individuals correct incorrect

Fewer than 1 in 2,000 individuals correct incorrect

Fewer than 1 in 10,000 individuals correct incorrect

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When was the Human Genome published?

1998 correct incorrect

2000 correct incorrect

2002 correct incorrect

2001 correct incorrect

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What is a population bottleneck?

An event or series of events that dramatically reduce the size of a population correct incorrect

A disease that kills a large part of the population correct incorrect

An evolutionary mechanism where new alleles are introduced to the population correct incorrect

A reduction in population size caused by rare disease correct incorrect

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What was the cause of Tamika and Caitlyn's rare disease?

A mutation inherited from a parent. correct incorrect

A de novo mutation in the same gene in both girls correct incorrect

We still don't know correct incorrect

A de novo mutation in a different gene in each girl correct incorrect

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Approximately how many children does the DDD study estimate are born with a rare disease globally each year?

10,000 correct incorrect

90,000 correct incorrect

250,000 correct incorrect

400,000 correct incorrect

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What is an HPO term?

A set of medically standardized terms to describe phenotypic abnormalities correct incorrect

A diagnostic tool used by clinicians to diagnose patients correct incorrect

An online database of genetic disorders correct incorrect

A list of characteristics to describe a particular disorder correct incorrect

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What is the purpose of the ExAC Consortium?

To share data collected by clinicians on rare disease correct incorrect

To sequence the exomes of patients with rare disease correct incorrect

To find the cause of rare disease correct incorrect

To provide standardized and open source database of exome and whole genome sequencing data from around the world correct incorrect

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Why does Decipher have two levels of access to its data (public and controlled)?

To protect the anonymity of the patients whose data is uploaded to the database correct incorrect

To make sure clinicians can keep their diagnoses private correct incorrect

To stop the database from becoming overloaded correct incorrect

To stop the website being hacked correct incorrect

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What mechanism is thought to cause Wiedermannsteiner Syndrome?

Inherited mutations interacting with each other in KMT2A/MLL correct incorrect

We still don't know correct incorrect

De novo mutations that prematurely truncate the protein product in KMT2A/MLL correct incorrect

De novo mutations in the noncoding and regulatory parts of the KMT2A gene correct incorrect

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Why is gene therapy trialled in animals before humans?

At the moment technical challenges make it difficult to trial safely in humans correct incorrect

Animals have similar physiology and biology to humans correct incorrect

Animals suffer some of the same diseases as humans correct incorrect

Animals have a shorter lifespan than humans correct incorrect