Netherlands Researcher Wins 2021 Sheila Essey Award for Genetics Work

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by Marta Figueiredo PhD |

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CRISPR-based gene editing

Jan Veldink, a neurologist from the Netherlands whose work in the genetics of amyotrophic lateral sclerosis (ALS) has led to important discoveries about disease risk, won the 2021 Sheila Essey Award, according to a blog post  from the ALS Association.

The $50,000 award was presented at the recent Commitment to Cures annual gala of the American Brain Foundation.

The award is given through the Essey Family Fund in memory of Sheila Essey, who died in 2004 after a 10-year struggle with the neurological disease. It recognizes scientists’ research and contributions in search of the cause, prevention, and cure of ALS.

“Receiving the 2021 Sheila Essey Award is a tremendous honor for me,” said Veldink, MD, PhD, a professor of human neurogenetics at the University Medical Center Utrecht.

“This truly is a recognition for all the efforts I and others make to gain insight into the complete genetic basis of ALS, knowing that genetic findings nowadays can translate to new therapies,” he added.

The American Brain Foundation, the ALS Association, and the American Academy of Neurology fund the annual award.

Veldink’s research into the epidemiology — the study of the distribution, causes, and risk factors of a disease — and genetics of ALS has resulted in important discoveries, including the identification of several new ALS risk genes. He has established a research line on ALS genetics, epidemiology, and transcriptomics and has a proven expertise in both array-based and sequencing technology.

Transcriptomics is the study of the complete set of messenger RNA — the intermediate molecule derived from DNA that guide protein production — present at a given time in a cell, tissue, or organism.

In addition, he has established an international biobanking register and patient database specifically for ALS. Those resources are essential for Project MinE, a collaborative effort between researchers from 20 countries that seeks to analyze the DNA profile of at least 15,000 ALS patients and 7,500 healthy individuals.

By performing comparative analyses on the resulting, extensive genetic data, researchers expect to be able to identify gene variants, including rare ones, associated with ALS. Their findings may help to develop new targeted treatments for the disease.

The neurologist said in his acceptance speech at the gala that his work is focused on generating “large but still detailed and harmonized datasets, in order to find robust, meaningful results, and making the data available to the scientific community at large.”

“This is what Project MiNE is all about, and I believe the Sheila Essey Award is a firm recognition of this,” Veldink added.

According to the ALS Association, Veldink’s work has jumped hurdles in understanding ALS.

“Dr. Veldink’s leadership for the worldwide Project MinE initiative has yielded important genetic discoveries and has played a key role in unlocking the genetic mysteries of ALS,” said Kuldip Dave, PhD, the ALS Association’s vice president of research.

“His commitment to open science has helped expand global collaboration and data mining to speed up the pace of new discoveries and expand our knowledge of [genetics-traits] correlations,” Dave added.

“My research is not finished yet and this award is a huge incentive for me to continue,” Veldink said at the gala.

The Sheila Essey Award for ALS research is made possible through the ALS Association Golden West Chapter, which Richard Essey, Sheila’s husband, helped to launch.

Richard Essey, who died in April 2020, also served as a national trustee of the ALS Association