Rough draft.This research track is under review with Dr. Atit's lab. Content and sequence may still change.

Here's an example of what's due today

The Hidden Regulatory Variant

Genetics domain · Lesson 9 of 20 · Medical Interventions (MI), with PBS overlap

Today's goal: Students will distinguish coding from regulatory variants and explain how the common nonsyndromic cleft-lip risk variant rs642961 raises risk by disrupting an AP-2alpha enhancer instead of changing the protein.

Learn first

What a finished product looks like

This is a model of the work you should turn in. Use it to check your own: match the structure and the level of detail, do not copy it. Your wording should be your own.

Counselor's plain-language note

Completes: A two-sentence family explanation distinguishing a regulatory risk allele from a protein-changing mutation.

Counselor's note for the family:

This variant (rs642961) does not change the IRF6 protein at all. Instead it sits in a nearby switch region (the MCS-9.7 enhancer) and breaks the spot where a helper protein, AP-2alpha, normally docks, so IRF6 gets turned down in the lip-forming tissue.
Carrying the A version is a risk factor, not a guaranteed cause: isolated cleft lip is multifactorial, so this common variant nudges risk up a little and adds to many small factors, rather than guaranteeing a cleft.

Also due today: Keep the language plain enough for a family with no genetics background.

Learn first

How this was built, step by step

The finished product above did not appear all at once. Here is the path from the question to the turned-in work, so you can follow the same steps.

1Start from today's question: Where is the common, hidden variant?
2Work the Model and the Explore questions to reason it out before writing anything.
3Pull the specific evidence the product needs from the reading and any database you used.
4Write it up in the required format: In the 's note, write two sentences for the family: one explaining that rs642961 does NOT change the IRF6 but turns it down by breaking a switch, and one stating why it is a , not a guaranteed cause.
5Check it against the rubric, then submit.

How this is graded (rubric)

For: In the genetic counselor's note, write two sentences for the family: one explaining that rs642961 does NOT change the IRF6 protein but turns it down by breaking a switch, and one stating why it is a risk factor, not a guaranteed cause.

Criterion	Proficient	Developing	Beginning
Complete	Every required part of the artifact is present and filled in.	Most parts are present, but one is missing or left blank.	Several parts are missing.
Accurate	The science and data are correct and match the evidence.	Mostly correct, with a small factual slip.	Key science or data is wrong.
Scientific reasoning (CER)	States a claim, backs it with specific evidence, and explains the reasoning.	Has a claim and evidence, but the reasoning is thin or missing.	Gives an answer with no evidence or reasoning.
Professional communication	Clear, organized, and labeled the way a clinician or scientist would write it.	Readable but disorganized or missing labels.	Hard to follow.
Submitted	Turned in the right way (Schoology for routine work) and confirmed.	Turned in, but in the wrong place or unconfirmed.	Not turned in.

How the model answer scores against this rubric

CompleteProficient: Nothing is left blank: the model fills every part of "In the genetic counselor's note, write two sentences for the family: one explaining that rs642961 does NOT change the IRF6 protein but turns it down by breaking a switch, and one stating why it is a risk factor, not a guaranteed cause.".
AccurateProficient: Every number and claim matches the case evidence.
Scientific reasoning (CER)Proficient: It names a claim, cites the specific evidence, and explains the reasoning, not just the answer.
Professional communicationProficient: It is organized and labeled like a real chart note.
SubmittedProficient: It would be turned in on Schoology and confirmed.

Check yourself

WebXam problem for today's skill

One exam-style question that uses exactly what you practiced today. Try it before you reveal the answer, then read why each choice is right or wrong.

WebXam-style domain: Gene regulation and multifactorial diseaseSelf-check skill: Distinguishing a regulatory risk allele from a protein-coding mutation

The common variant rs642961 sits in the MCS-9.7 enhancer upstream of IRF6. In a binding test, the G version binds the transcription factor AP-2alpha but the risk A version does not. The IRF6 protein sequence is unchanged. How does the A allele raise cleft-lip risk?

Tap an answer to see the full explanation. Nothing is recorded or graded.

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