Rough draft.This research track is under review with Dr. Atit's lab. Content and sequence may still change.
Craniofacial Research Track
Session 10Reading the Evidence, DecemberLens: PBS
Read a gene card: NCBI Gene and MedlinePlus
Discovery question
We keep saying IRF6 is a gene. How would Mateo's care team actually look up what that gene does, and where do they find it?
A gene is not a mystery. It has a public record card with a name, a location, aliases, and a description of the 's job, and anyone can read it.
The plan
Prerequisite check
Before this page, you should know
- In autosomal dominant inheritance, one altered copy of the gene is enough to cause the condition.
- Penetrance is the fraction of people with the disease-linked who actually show the trait, so a family pattern can look uneven.
If not, review
Today's new idea is only
A gene is not a mystery. It has a public record card with a name, a location, aliases, and a description of the 's job, and anyone can read it.
Learn first
What to learn
Goal: Open the IRF6 record in NCBI Gene and MedlinePlus and write a one-paragraph gene card, in your own words, covering what the does and where the gene sits.
Know by the end
- Every human gene has a public record in NCBI Gene with a stable Gene ID (IRF6 is Gene ID 3664).
- A gene record lists the official symbol, the full name, aliases (other names), and the location.
- MedlinePlus Genetics gives the same gene in plain language written for patients and families.
- IRF6 codes for a the skin-like cells of the lip and need in order to fuse.
The plan
Guided notes
1
Find the record
Model start: Official symbol: IRF6. Full name: interferon regulatory factor 6. Gene ID: 3664.
- Write the official symbol, the full gene name, and the Gene ID for IRF6.
- Write the location exactly as the record shows it.
- List two aliases (other names) the record gives for IRF6.
2
What the protein does
Model start: The IRF6 is a , a protein that turns other genes on or off, and it is needed for normal development of skin and other tissues.
- In the Summary on NCBI Gene, find one sentence about the 's job and copy the key idea in your own words.
- On MedlinePlus, find what conditions IRF6 changes are linked to and name one.
3
Your gene card
- Write one paragraph (4 to 5 sentences) that a classmate could read to understand IRF6: name, location, what the does, and why it matters for Mateo.
- Underline the one fact you think is most important for the case.
Explore
Reading the Research
What to read
Read the overview section at the top of the page only. IRF6, Gene ID 3664 (the full gene record)
Why this source matters
This is the published evidence behind today's idea: A gene is not a mystery. It has a public record card with a name, a location, aliases, and a description of the 's job, and anyone can read it.
Words to unlock first
Reading moves
- Skim the title and abstract first to get the gist.
- Circle the one sentence that states the main claim.
- Box the evidence the authors give for that claim.
- Mark one sentence that confuses you, and move on.
Stop point
You do not need every detail on the page. Stay with the parts that connect to Mateo.
Your output
Write one claim-evidence sentence: what this source claims, and the one piece of evidence that backs it up.
Lab day
Use the real database
ncbi
- Open NCBI Gene at https://www.ncbi.nlm.nih.gov/gene/3664 (this is IRF6, Gene ID 3664). If the link does not open the record, go to https://www.ncbi.nlm.nih.gov, set the search box dropdown to Gene, type IRF6 human, and click the IRF6 result for Homo sapiens.
- At the top of the record, read the Official Symbol (IRF6) and Official Full Name (interferon regulatory factor 6).
- In the box near the top, find Also known as and write down two aliases (for example LPS, VWS, PIT, OFC6).
- Find Location and write the band exactly as shown (IRF6 is on chromosome 1, band 1q32.2).
- Scroll to the Summary section and read the description of what the does. Copy the key idea about it being a in your own words.
- Open MedlinePlus Genetics at https://medlineplus.gov/genetics/gene/irf6/ in a second tab.
- Read the Normal Function section for the plain-language job of the , then read Health Conditions Related to Genetic Changes and note one condition (for example ).
Turn in: A one-paragraph gene card (4 to 5 sentences) in the student's own words: IRF6's symbol, full name, Gene ID, location, what the does, and why it matters for Mateo.
Lab day
Using the database (what to capture)
NCBI Gene
Open the tool The full reference record for a gene: its official symbol, ID, location, and what it does.
When you use this: Use this first, when you have a gene name and need its official ID and address. It is the home base every other database points back to.
What the screen looks like
Step by step
- 1Go to ncbi.nlm.nih.gov/gene and type the gene symbol IRF6 in the search box, then press Search.
- 2Open the top result whose organism is Homo sapiens (human).
- 3At the top of the record, read three things and write them down: the official symbol, the Gene ID number, and the location ( band).
Capture these fields
- Symbol (official gene name): IRF6
- Gene ID (the stable number): 3664
- Location (chromosome band): 1q32.2
- Summary (one line on its job): A transcription factor needed for the skin-surface cells that let the lip and palate fuse.
How to read it: The symbol and Gene ID let you find the exact same gene in every other database. The location should match the band you mapped (1q32). The summary tells you the gene's job in one sentence.
Lost? NCBI Gene help manual (how to use the Gene database) MedlinePlus
Open the tool Plain-language explanations of a gene or condition, written for patients and families.
When you use this: Use this when a research paper is too dense, or when you need to explain a finding to Mateo's family in everyday words.
What the screen looks like
Step by step
- 1Open medlineplus.gov/genetics and search the gene or condition (IRF6).
- 2Read the summary written in everyday words.
- 3Note the conditions the gene is linked to at the bottom of the page.
Capture these fields
- Topic: IRF6 gene
- Plain-language summary: IRF6 helps the tissues of the face join correctly before birth.
- Linked conditions: Van der Woude syndrome; nonsyndromic cleft
How to read it: Start here when a research paper is too dense. MedlinePlus gives you the gist in everyday words so you can go back to the harder source knowing what it is about.
Lost? About MedlinePlus GeneticsExplore
Vetted links for this session
Learn first
Pick your level
Level 1, Guided
Use the sentence starters, a word bank from the vocabulary, a labeled diagram, and the exact source link.
Level 2, Collaborative
Complete a partly blank model or table and explain it.
Level 3, Independent
Make a claim from a new example or an unfamiliar entry in NCBI.
The plan
Work as a research team
Team roles
- Manager: keeps the group moving
- Recorder: writes the shared model or table
- Evidence checker: verifies each claim against the source
- Reporter: explains the group's reasoning
Process reflection
- What evidence changed your thinking today?
- What did your group disagree about, and how did you resolve it?
- What question is still unresolved?
Check yourself
Demonstration of learning
By the end of this session, submit ONE of: a labeled diagram with a 2-sentence explanation; a claim, evidence, reasoning paragraph; a completed data table from a real database; or a one-question exit ticket using today's vocabulary.
Recommended here: A one-paragraph gene card (4 to 5 sentences) in the student's own words: IRF6's symbol, full name, Gene ID, chromosome location, what the protein does, and why it matters for Mateo.
Meets standard if your explanation correctly connects structure, timing, gene or protein function, or evidence source to Mateo's case: Open the IRF6 record in NCBI Gene and MedlinePlus and write a one-paragraph gene card, in your own words, covering what the protein does and where the gene sits.
How this is graded (rubric)
For: A one-paragraph gene card (4 to 5 sentences) in the student's own words: IRF6's symbol, full name, Gene ID, chromosome location, what the protein does, and why it matters for Mateo.
| 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 "A one-paragraph gene card (4 to 5 sentences) in the student's own words: IRF6's symbol, full name, Gene ID, chromosome location, what the protein does, and why it matters for Mateo.".
- 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.