Case Study: Finding Rare Mutations at the Center for Rare Jewish Genetic Disorders

Since 1999, Bonei Olam has been providing large-scale
funding for fertility treatment and research. The non-profit’s mission is to provide
whatever means or resources necessary to help childless couples achieve the
dream of parenthood. Today, it is recognized in the worldwide medical arena for
its leadership role at the forefront of reproductive medicine, research and
technology. Specifically, Bonei Olam has brought the joy of parenthood to
nearly 6,000 couples through a myriad of programs including financial
assistance, work up, medication, high-risk pregnancy, pre-implantation, genetic
diagnosis, pre-and-post cancer fertility, education, awareness, and adoption
assistance.
The genetic research provided by Bonei Olam is conducted at the
Center for Rare Jewish Genetic Disorders and is focused on identifying the
genes that cause rare disorders and disabilities that are associated with
ethnic Jewish populations. To do this, Chaim Jalas, the Director of Genetic Resources and Services for
the center, is on the forefront of leveraging whole exome sequencing data to
better educate and consult with couples regarding undiagnosed disorders.
Jalas and his team recently adopted the VarSeq Clinical
Suite in order to conduct trio analysis and other family based next-generation
sequencing analysis. “The VarSeq software provides beautiful filtering and
annotation for our samples”, said Jalas. “However, what really impressed us was
the ability of VSWarehouse to help us to generate a population catalogue
specific to the Ashkenazi Jewish community.” Jalas further explained that along
with other leading research institutions such as the Hadassah Medical Center in
Jerusalem, that a large database combining huge cohorts will be created in
VSWarehouse. “The ability to combine projects and query the data against so
many annotation sources, from our own servers, was very impressive” Jalas
commented. “Also, we have many students and doctors who are not bioinformaticians
and VSWarehouse provides an easy and fast online interface.”
Jalas also mentioned VarSeq’s pricing model and the Golden
Helix brand in his decision to implement the VarSeq Clinical Suite. “Paying per
sample fees is too much. I would rather buy a software program than to ever
think twice before reanalyzing a sample. It also makes budgeting less of a
hassle”, said Jalas. “And Golden Helix has been around for a long time. I know
that you will not disappear in a few months.”
In the last 5 years Chaim and his team, along with
collaborators around the world, have published more than 30 papers that have
helped to identify rare mutations within the Ashkenazim population. After
publication, these important studies have helped families with undiagnosed
children to obtain a diagnosis and get the medical treatment they need. Chaim
said, “Our focus is to work with researchers worldwide in order to pinpoint
genetic mutations for severe disorders in the Ashkenazim population”.