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

Chance or Genetic? Reading Mateo's Family Tree

Take the reading one piece at a time. For each piece: read it once, underline the sentence that says what happens, then look up any word in the list. Tap a word to see its definition.

1

Piece 1 of 2

You interview Mateo's family and write down what you hear. Mateo (newborn boy) has cleft lip and palate, and his newborn exam finds no other birth defects. His mother, father, and older sister have no cleft and no other findings. Both sets of grandparents report no clefts. One distant relative, a great-uncle the family has never met, is remembered in a family story as having had "something done to his lip" as a baby, but nobody is sure it was a cleft and there are no records.

2

Piece 2 of 2

A pedigree is a family tree drawn with agreed-upon symbols: a square is male, a circle is female, an open symbol is unaffected, a filled symbol is affected, a horizontal line is a couple, a vertical line down leads to their children, and an arrow marks the proband. Drawn out, Mateo's family shows unaffected grandparents and unaffected parents, an unaffected sister, and only Mateo filled in as the affected proband. Off to the side, the distant great-uncle is drawn dashed and labeled with a question mark because the story is uncertain and unverified. We fill a symbol only when a finding is confirmed.

Words in this piece
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Reading the Research

What to read
Read the title and the abstract only, not the whole paper. Leslie EJ, et al. 2012. IRF6 variants in VWS and PPS. Genet Med. [PMID:23154523]
Why this source matters
This is the published evidence behind today's idea: A pedigree does not by itself prove a gene, but it tells us whether, and how hard, to look for one.
Reading moves
  1. Skim the title and abstract first to get the gist.
  2. Circle the one sentence that states the main claim.
  3. Box the evidence the authors give for that claim.
  4. 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.

Now put it together: In one or two sentences, say what this whole reading is telling you about Mateo. Then go back to the lesson and fill in the guided notes.