Rough draft.This research track is under review with Dr. Atit's lab. Content and sequence may still change.
Craniofacial Research Track
Session 15The Fix, January (intensive)Lens: Biomedical Innovations
Fixing it early: in-utero correction and delivery
Discovery question
Mateo's face fuses between weeks 4 and 12. If a correction has to reach the right cells while they are still forming, when and how would you deliver it?
In theory, a developmental correction would have to act during the same window when is happening. To work, the editing tool would have to be carried by a delivery vector that actually reaches the right cells, such as the transient and layers at the fusing edges. In humans this is not an approved or near-term treatment for clefting.
The plan
Prerequisite check
Before this page, you should know
- A guide RNA is a short RNA written to match a chosen target by base pairing.
- Cas9 is the that does the cutting; the guide RNA steers it to the right spot.
If not, review
Today's new idea is only
In theory, a developmental correction would have to act during the same window when is happening. To work, the editing tool would have to be carried by a delivery vector that actually reaches the right cells, such as the transient and layers at the fusing edges. In humans this is not an approved or near-term treatment for clefting.
Learn first
What to learn
Goal: Explain why the critical window is both a problem and a treatment window, describe what a delivery vector must do, and state plainly that correction for clefts is research, not standard care.
Know by the end
- The critical window (about weeks 4 to 12) is when facial must happen, so in theory a correction aimed at that step would have to act during the same window. In humans this is not an approved or near-term treatment for clefting.
- A delivery vector is the (such as a virus or a nanoparticle) that gets the editing tool into the right cells.
- Delivery is the hard part: the vector must reach the right place, in the right cells, at the right time.
- The is a thin temporary outer cell layer at the fusing edges, so reaching periderm and cells is one target idea.
- gene correction for clefts has been studied in animals; it is research, not an approved human treatment.
The plan
Guided notes
1
Why early, and why hard
Model start: only happens once, in a limited window, so a correction aimed at that step would have to arrive during that same window.
- In your own words, explain why the critical window is both when a can happen and when an early fix would have to happen.
- List two reasons delivering a tool before birth is harder than delivering a pill after birth.
2
What a delivery vector must do
Model start: A delivery vector is the , such as a virus or a nanoparticle, that brings the editing tool into the cells we are aiming for.
- Define delivery vector in one sentence, and name two examples.
- List the three things a vector must get right: the right place, the right cells, the right time.
3
Targeting the fusing edges, and a reality check
Model start: The is a thin temporary layer at the edges that must clear for , so it is one place a correction could be aimed.
- Explain why the and the cells at the fusing edges are a target of interest.
- Write the honest one-line status of correction in humans today.
Explore
Reading the Research
What to read
Read the title and the abstract only, not the whole paper. Literature on in-utero and prenatal gene editing (PubMed)
Why this source matters
This is the published evidence behind today's idea: In theory, a developmental correction would have to act during the same window when is happening. To work, the editing tool would have to be carried by a delivery vector that actually reaches the right cells, such as the transient and layers at the fusing edges. In humans this is not an approved or near-term treatment for clefting.
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 the methods or statistics yet. If a sentence is about lab technique or math you have not learned, mark it and skip it.
Your output
Write one claim-evidence sentence: what this source claims, and the one piece of evidence that backs it up.
Lab day
Using the database (what to capture)
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 GeneticsLearn 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 the same database.
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.
Meets standard if your explanation correctly connects structure, timing, gene or protein function, or evidence source to Mateo's case: Explain why the critical window is both a problem and a treatment window, describe what a delivery vector must do, and state plainly that in-utero correction for clefts is research, not standard care.
How this is graded (rubric)
For: Explain why the critical window is both a problem and a treatment window, describe what a delivery vector must do, and state plainly that in-utero correction for clefts is research, not standard care.
| 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 "Explain why the critical window is both a problem and a treatment window, describe what a delivery vector must do, and state plainly that in-utero correction for clefts is research, not standard care.".
- 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.