Memorial Viewpoint for Joop van Lenthe

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Guillain-Barré syndrome: a century of progress

In 1916, Guillain, Barré and Strohl reported on two cases of acute flaccid paralysis with high cerebrospinal fluid protein levels and normal cell counts — novel findings that identified the disease we now know as Guillain–Barré syndrome (GBS). 100 years on, we have made great progress with the clinical and pathological characterization of GBS. Early clinicopathological and animal studies indicated that GBS was an immune-mediated demyelinating disorder, and that severe GBS could result in secondary axonal injury; the current treatments of plasma exchange and intravenous immunoglobulin, which were developed in the 1980s, are based on this premise. Subsequent work has, however, shown that primary axonal injury can be the underlying disease. The association of Campylobacter jejuni strains has led to confirmation that anti-ganglioside antibodies are pathogenic and that axonal GBS involves an antibody and complement-mediated disruption of nodes of Ranvier, neuromuscular junctions and other neuronal and glial membranes. Now, ongoing clinical trials of the complement inhibitor eculizumab are the first targeted immunotherapy in GBS

Parelsnoer institute biobank hereditary colorectal cancer: A joint infrastructure for patient data and biomaterial on hereditary colorectal cancer in the Netherlands

Each year approximately 15,000 patients are diagnosed with colorectal cancer (CRC) in the Netherlands, of whom 5-10% are associated with a hereditary syndrome. To enable future research into hereditary CRC, we established a collaborative biobank for hereditary CRC in all eight University Medical Centers (UMCs) in the Netherlands in 2009. This Biobank Hereditary CRC is part of the Parelsnoer Institute (PSI), which is funded by the Dutch Federation of UMCs and the Dutch Government. Besides the multicenter collaboration, the multidisciplinary nature of this biobank - involving Gastroenterology, Genetics and Surgery - is essential for its functionality and value.Patients at increased risk of hereditary CRC and/or Polyposis, or with a proven germline mutation causing CRC and/or Polyposis are included. Both clinical data (demographic data, details on medical and family history, information on surveillance, endoscopy and surgery, results of microsatellite instability and molecular genetic tests) and biomaterial (DNA, plasma, serum and tissue) are collected in a standardized manner

The Introduction of Bioptic Driving in the Netherlands

Background: In many US states, people with moderately reduced visual acuity (eg, 20/50–20/200) can legally drive with the aid of a small, spectacle-mounted (“bioptic”) telescope.We conducted a demonstration project to assess the viability of implementing bioptic driving in the Netherlands. In this article, we describe the framework of the project from conception through to realization of our primary objective—the introduction of bioptic driving as a legal option for visually impaired people in the Netherlands. Methods: The project was based on bioptic driving programs in the United States, which were adapted to fit into current driving training and assessment practices in the Netherlands. The project convened a consortium of organizations including the Netherlands Bureau of Driving Skills Certificates, service organizations for the visually impaired, and research departments at universities investigating driving and vision. All organizations were educated about bioptic driving and participating professionals were trained in their specific aspects of the project. Media publicity led to significant interest and helped recruitment that enabled the screening and selection of potential participants. Outcomes: The project demonstrated that people with moderately reduced visual acuity can be trained to achieve an adequate level of proficient and safe driving (as assessed by the local official driving licensing professionals) when using a bioptic telescope for the road conditions in the Netherlands. Based on the successful project outcomes, a request was made to the minister to allow bioptic driving in the Netherlands. This request has been accepted; the legal procedures for implementation are in process

Genomic insights into the origin of farming in the ancient Near East

We report genome-wide ancient DNA from 44 ancient Near Easterners ranging in time between ~12,000 and 1,400 BC, from Natufian hunter–gatherers to Bronze Age farmers. We show that the earliest populations of the Near East derived around half their ancestry from a ‘Basal Eurasian’ lineage that had little if any Neanderthal admixture and that separated from other non-African lineages before their separation from each other. The first farmers of the southern Levant (Israel and Jordan) and Zagros Mountains (Iran) were strongly genetically differentiated, and each descended from local hunter–gatherers. By the time of the Bronze Age, these two populations and Anatolian-related farmers had mixed with each other and with the hunter–gatherers of Europe to greatly reduce genetic differentiation. The impact of the Near Eastern farmers extended beyond the Near East: farmers related to those of Anatolia spread westward into Europe; farmers related to those of the Levant spread southward into East Africa; farmers related to those of Iran spread northward into the Eurasian steppe; and people related to both the early farmers of Iran and to the pastoralists of the Eurasian steppe spread eastward into South Asia

Archaeogenetic analysis of Neolithic sheep from Anatolia suggests a complex demographic history since domestication

Yurtman, ozer, Yuncu et al. provide an ancient DNA data set to demonstrate the impact of human activity on the demographic history of domestic sheep. The authors demonstrate that there may have been multiple domestication events with notable changes to the gene pool of European and Anatolian sheep since the Neolithic. Sheep were among the first domesticated animals, but their demographic history is little understood. Here we analyzed nuclear polymorphism and mitochondrial data (mtDNA) from ancient central and west Anatolian sheep dating from Epipaleolithic to late Neolithic, comparatively with modern-day breeds and central Asian Neolithic/Bronze Age sheep (OBI). Analyzing ancient nuclear data, we found that Anatolian Neolithic sheep (ANS) are genetically closest to present-day European breeds relative to Asian breeds, a conclusion supported by mtDNA haplogroup frequencies. In contrast, OBI showed higher genetic affinity to present-day Asian breeds. These results suggest that the east-west genetic structure observed in present-day breeds had already emerged by 6000 BCE, hinting at multiple sheep domestication episodes or early wild introgression in southwest Asia. Furthermore, we found that ANS are genetically distinct from all modern breeds. Our results suggest that European and Anatolian domestic sheep gene pools have been strongly remolded since the Neolithic

Genome-wide patterns of selection in 230 ancient Eurasians

Ancient DNA makes it possible to directly witness natural selection by analyzing samples from populations before, during and after adaptation events. Here we report the first scan for selection using ancient DNA, capitalizing on the largest genome-wide dataset yet assembled: 230 West Eurasians dating to between 6500 and 1000 BCE, including 163 with newly reported data. The new samples include the first genome-wide data from the Anatolian Neolithic culture whose genetic material we extracted from the DNA-rich petrous bone and who we show were members of the population that was the source of Europe’s first farmers. We also report a complete transect of the steppe region in Samara between 5500 and 1200 BCE that allows us to recognize admixture from at least two external sources into steppe populations during this period. We detect selection at loci associated with diet, pigmentation and immunity, and two independent episodes of selection on height