Rough draft.This research track is under review with Dr. Atit's lab. Content and sequence may still change.
The Baby Mateo Case
Developmental domainPrinciples of Biomedical Science (PBS)Lesson 20 of 20Your seat: Whole developmental team (synthesis)
Mateo's Complete Developmental Story
Discovery question
Assembling everything we learned, what is the complete of Mateo's , and what kind of cleft is it?
💡 Assembling twenty lessons, Mateo's is the visible endpoint of a that did not finish on schedule: an failure of lip and fusion in the weeks 4 to 12 window, multifactorial in origin.
The plan
Prerequisite check
Before this page, you should know
- A adds a missing signal back to test whether its loss caused the defect; it is the partner of the .
- Forcing a gene ON is , the opposite of a .
Today's new idea is only
Assembling twenty lessons, Mateo's is the visible endpoint of a that did not finish on schedule: an failure of lip and fusion in the weeks 4 to 12 window, multifactorial in origin.
Learn first
What you will learn
Goal: Assemble the twenty-lesson evidence into one normal-versus-failed developmental account of Mateo's , and conclude that it is an isolated failure of in a specific window (nonsyndromic, multifactorial), with the handed off to the other teams.
Know by the end
- Synthesis means combining many separate findings into one explanation.
- Mateo's failure is local and late: lip-front (~week 6) and secondary fusion (~weeks 8 to 12) did not complete on the left, while everything else formed normally.
- Because no other structure or organ is involved, the is isolated, also called nonsyndromic, not part of a named syndrome.
- Because the family pattern is sparse and the biology behaved as many small pushes over a threshold, it is multifactorial: several small genetic, epigenetic, and environmental contributions, not one all-or-nothing gene.
Learn first
Model: The evidence board and two competing explanations
The case file, unchanged since day one (a composite case, not a real patient): born at term with a complete (left) lip and ; found no other birth defects; parents unaffected and the family history sparse and ambiguous.
The twenty-lesson evidence board: the face is built from blocks that fuse on schedule (weeks 4 to 12); cranial built Mateo's other structures (jaw, ears, eyes) normally; needs the seam to dissolve under and IRF6; signals (SHH, BMP, FGF, WNT) set growth and fate with no sign of global disruption; environment and tune the odds (); and a failed step can be mapped and even rescued in a mouse.
Two stories: Story A, a syndrome where one powerful gene fault broke many structures at once; Story B, an isolated, multifactorial where several small pushes tipped ONE step over its threshold and nothing else was affected. Let the evidence choose.
Do the work
Explore (work the model before reading on)
- List every body system OTHER than the lip and that shows a problem in Mateo. (Read carefully.)
- Which single developmental step does the evidence point to as the one that failed?
- Mateo's built a normal jaw, normal ears, and a normal-looking face apart from the . Why does that argue against Story A (a broad, single-gene syndrome) and toward Story B?
- The family history is sparse and ambiguous, and isolated clefting behaved like an additive many-small-pushes trait. Does that fit a clean single-gene pattern, or a multifactorial one?
- Write the diagnosis your team has earned, in your own words, before reading the guided notes. Name the failed step, the window, and whether it looks isolated or syndromic.
The plan
Guided notes
1
Assembling the story
Model start: This is synthesis: combining many separate findings into one explanation.
- Between weeks 4 and 12 the lip-front (~week 6) and the secondary fusion (~weeks 8 to 12) did not complete on the left, while everything else formed ____ (normally).
- So the failure is local and late: one step, on one side, in one ____ (window), not a breakdown of the whole program.
2
Naming it (earned, not declared)
- Because no other structure or organ is involved, Mateo's is ____ (isolated), also called ____ (nonsyndromic).
- Because the family pattern is sparse and the biology behaved as many small pushes adding up, it is ____ (multifactorial): several small genetic, epigenetic, and environmental contributions, not one all-or-nothing gene.
Explore
Reading the Research
What to read
Read the title and the abstract only, not the whole paper. Lan & Jiang 2015, Cellular and Molecular Mechanisms of Palatogenesis (Curr Top Dev Biol)
Why this source matters
This is the published evidence behind today's idea: Assembling twenty lessons, Mateo's is the visible endpoint of a that did not finish on schedule: an failure of lip and fusion in the weeks 4 to 12 window, multifactorial in origin.
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.
Where this fits
Tested on (Ohio WebXam)
Genetics of Disease · 072130
PLTW lesson
MI · Developmental domain · PLTW PBS 072110
WebXam domain
Bio-Molecular Technology
Evidence to produce
Write the developmental team's one-paragraph entry for Mateo's Domain Report. It must (1) name the failed step and its window, (2) give two pieces of evidence that the failure is isolated rather than syndromic, (3) state that it is multifactorial and say what that means, and (4) end by handing the case to the next teams. Keep it honest and free of overpromising; Mateo is a composite case.
Lab / skill
Principles of Biomedical Science (PBS)
Explore
Vetted readings for this lesson
- Lan & Jiang 2015, Cellular and Molecular Mechanisms of Palatogenesis (Curr Top Dev Biol)
- Alvizi et al. 2017, Differential methylation in nonsyndromic cleft lip and palate and penetrance (Sci Rep)
- Zhang et al. 2002, Rescue of cleft palate in Msx1-deficient mice by transgenic Bmp4 (journal link; use class excerpt if blocked)
The plan
Track your progress today
Check these off as you work through the lesson, then submit. This tells Mr. Mendoza how you're doing so he can help the class. It does not replace turning in your producible.
Use the code Mr. Mendoza gave you, not your name. Saved on this device.
Check off as you finish
- Read the Model and answered the Explore questions.
- Filled in the guided notes in my own words.
- Defined the new vocabulary with an example.
- Built the producible: Write the developmental team's one-paragraph entry for Mateo's Domain Report. It must (1) name the failed step and its window, (2) give two pieces of evidence that the failure is isolated rather than syndromic, (3) state that it is multifactorial and say what that means, and (4) end by handing the case to the next teams. Keep it honest and free of overpromising; Mateo is a composite case.
- Wrote my Claim, Evidence, and Reasoning exit ticket.
Pick your period and code first.
Check yourself
Exit ticket (Claim, Evidence, Reasoning)
- Claim: Mateo's is an , multifactorial failure of lip and .
- Evidence: Two findings from your evidence board that support isolated and one that supports multifactorial.
- Reasoning: Explain how the evidence ruled out a single-gene syndrome and pointed to a local, late with many small causes.
How this is graded (rubric)
For: Write the developmental team's one-paragraph entry for Mateo's Domain Report. It must (1) name the failed step and its window, (2) give two pieces of evidence that the failure is isolated rather than syndromic, (3) state that it is multifactorial and say what that means, and (4) end by handing the case to the next teams. Keep it honest and free of overpromising; Mateo is a composite case.
| 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 "Write the developmental team's one-paragraph entry for Mateo's Domain Report. It must (1) name the failed step and its window, (2) give two pieces of evidence that the failure is isolated rather than syndromic, (3) state that it is multifactorial and say what that means, and (4) end by handing the case to the next teams. Keep it honest and free of overpromising; Mateo is a composite case.".
- 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.
Explore
Where this leads: careers
Developmental biologist Pediatric geneticist Craniofacial team clinician
What's next: Mateo's is an isolated, multifactorial failure of in the weeks 4 to 12 window, with the rest of development normal. The developmental team now hands his fusion-failure story to the genetics, anatomical, and clinical teams. Do their stories agree with ours?