De la Chapelle was in clinical training in Endocrinology when a paper appeared in 1959 describing the loss of an X chromosome (45,X) in Turner's syndrome.
The de la Chapelle laboratory soon was transformed into a molecular genetics one working mainly with restriction fragment length polymorphisms as markers.
The number of diseases studied is approximately 24, including a few "non-Finnish" disorders such as Peutz–Jeghers syndrome, and a few in which the de la Chapelle group mapped the region but the gene was found by others.
In 1992 collaborations between Finnish, US, New Zealand and Canadian researchers had led to the study of 2 exceptionally large families favorable for linkage analysis.
Genotyping these in Helsinki led to a breakthrough; convincing linkage was found to a locus on chromosome 2p which was subsequently shown to harbor the MSH2 gene.
In 2015, two decades later, Dr. de la Chapelle co-authored a paper describing dramatic results of therapy with anti-PD-1 antibodies in patients with microsatellite unstable tumors.
[10] The mapping of MSH2 and the detection of MSI led to an avalanche of research targeting the presumptive human homologs of already known yeast mismatch repair genes.
The unraveling of Lynch syndrome has had and will have important implications because morbidity and mortality can be substantially reduced in mutation-positive individuals through clinical surveillance and interventions.
It is estimated [clarification needed] that some 30,000 new cases of LS would be detected each year in the US provided all at-risk family members of affected individuals were screened for the proband's mutation.
Beginning in 1997 a main component of de la Chapelle's research has centered on detecting and annotating gene mutations that predispose to thyroid cancer, TC.
Ongoing research in the de la Chapelle lab aims at elucidating the functional aspects of the detected genes or variants.
The de la Chapelle lab belongs to a large and active Thyroid Cancer Program at The Ohio State University.
De la Chapelle is one of the first scientists who rose to oppose the International Olympic Committee's (IOC) handling of the issue of gender verification in sports.
[12] Soon other scientists joined forces and after years of public and closed door argumentation the IOC finally abandoned the sex chromatin (and later SRY gene) testing.
The issue of women with a masculine appearance (and muscle strength) due to congenital abnormalities of sex hormone metabolism requires detailed study of those rare individuals who are affected and who compete in sports.
Den lilla boken om Kalby describes his summer house in Tenala, Finland, located about 1 km from his childhood home.
He started an art collection and foundation (Albert de la Chapelles Konststiftelse) dedicated to the construction of a museum in Ekenäs, which is to be donated to the city of Raseborg.