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Sniffing out congenital anosmia

A project at the Crown Human Genome Center led by Prof. Doron Lancet of the Weizmann Institute’s Department of Molecular Genetics, in collaboration with clinicians from Meir Hospital in Kfar Saba, has clarified the genetic roots of congenital anosmia—the complete loss of the sense of smell (olfaction) from birth. The scientists revealed a connection between congenital anosmia and Kallmann syndrome, a more-studied condition characterized by olfactory impairment. The researchers found six different genes suspected in both conditions, thus revealing that the genetic basis of congenital anosmia is more complex than previously thought. 

The genetics of male infertility

Researchers with the Crown Human Genome Center have worked with clinicians in the Racine IVF Unit and Male Fertility Clinic and Sperm Bank at the Tel Aviv Sourasky Medical Center (TASMC) to study the genetic causes of azoospermia, a condition of complete absence of sperm in the semen. The collaboration—led by Prof. Shmuel Pietrokovski of the Weizmann Institute and Dr. Sandra Kleiman of TASMC—identified likely causative mutations of azoospermia in three genes: MEIOB, TEX14, and DNAH6. These mutations, which impair the process of meiosis, present new targets that may contribute to novel strategies for the diagnosis, treatment, and prevention of male infertility.  

Advances in GeneCards

The GeneCards development team at the Weizmann Institute recently introduced a new bioinformatics tool, called VarElect, to analyze the mass of data produced by next generation and whole genome sequencing. VarElect, a comprehensive search tool that helps infer both direct and indirect links between genes and diseases and phenotypes, has already proven useful for various biomedical challenges. For instance, clinicians looking for clues in the case of a family diagnosed with systemic capillary leak syndrome used VarElect to identify a promising candidate gene for this condition.

In another recent advance, the Crown Human Genome Center was involved in the design of GeneAnalytics™ (geneanalytics.genecards.org), an enhanced application of the existing GeneCards system.  Automatically mining data from more than 120 sources, the new system distils data relating to a particular gene set, and presents them in an intuitive, visual way. 

A complex, extended “family” of genetic diseases

Research done at the Crown Human Genome Center in 2012 identified how a mutation in the TECPR2 gene is involved in abnormal autophagy. The scientists classified this disorder — which was observed in three unrelated Jewish Bukharin families that shared similar physical characteristic, low muscle tone, and moderate-to-severe intellectual disability — as a subtype of hereditary spastic paraparesis (HSP).

More recently, the study of this mutation in non-Bukharin patients has led to the discovery of additional pathologies, including blood pressure and pulse imbalance and decreased pain sensitivity, in such individuals. These findings indicate that the prevalence of this mutation might be higher than previously assumed.

The study is of clinical significance because it identifies the TECPR2 mutation as a possible factor in undiagnosed conditions involving intellectual disability in combination with symptoms such as autonomic neuropathy and recurrent pulmonary infections.