Forbes Magazine, May 21, 2007 edition

Summary

"For years big drugmakers ignored rare diseases. Now Novartis aims to reap billions of dollars by focusing on them. Rare diseases were long relegated to the backwaters of the drug business, targeted by tiny biotech companies, if at all, and often ignored by drug giants in their search for billion-dollar franchises. But Novartis is in pitched pursuit of some of the more obscure maladies in the world."

The article indicates that "Novartis has compounds in preclinical tests that target Rett syndrome, a rare inherited brain disorder".

Link

http://forbes.com/forbes/2007/0521/060_print.html

Rett syndrome (RTT; OMIM#312750) is a severe neurodevelopmental disorder that affects mainly girls. It has an estimated incidence of 1:10 000–15 000 females. Mutations in the X-linked gene methyl CpG-binding protein 2 (MECP2) have been found in most patients.

The most accepted explanation for the sex bias is that the Rett mutation in sporadic cases has its origin in the paternal germline X chromosome and can thus only be transmitted to females. The majority of cases are sporadic (99.5%) but some familial cases have been described. These cases can either be explained by germline mosaicism or by asymptomatic carrier mothers with skewing of X-inactivation towards the wild-type MECP2 allele.

We describe one of the few familial cases of RTT in which a maternal germline mosaicism is the most likely explanation. The mutation p.Arg270fs (c.808delC) was identified in both a girl with classical RTT and her brother who had the severe neurological phenotype usually described in males. The mutation was absent in DNA extracted from blood of both parents.

These type of events must be taken into consideration in the genetic counselling of families after the diagnosis of a first case of RTT in a female or a MECP2 mutation in a male.

Researchers

Margarida Venâncio¹, Mónica Santos², Susana Aires Pereira³, Patrícia Maciel² and Jorge M Saraiva¹

ScienceDaily.com reported today that in the April 19, 2007 Issue of Neuron researchers from the Hospital for Sick Children and University of Toronto report the discovery of the genetic malfunction that causes a form of mental retardation called Noonan Syndrome (NS).

NS is a relatively common genetic disorder, occurring in one of every 2,500 live births. It is characterized by congenital heart defects, short stature, learning disabilities, and mental retardation.

The researchers speculated that “genetic perturbations such as those seen in NS, or perhaps even in more commonly studied disorders such as Rett Syndrome, might first perturb cell genesis, and then this might in turn alter many later aspects of neural development, ultimately resulting in impaired circuitry and cognitive dysfunction.”

Story Link

http://www.sciencedaily.com/releases/2006/10/061018151037.htm

Rett Syndrome (RTT) is a genetic brain disorder that occurs almost exclusively in females and is usually caused by a change (mutation) in the gene MECP2. The disorder is characterized by multiple developmental problems, as well as behavioral symptoms, such as repetitive stereotypic hand movements, including hand washing, wringing, and tapping. While there is no cure for RTT, recent advances in the understanding of the disease suggest that the development of new, effective therapies is promising. This study will gather information on the genetic defects that cause RTT, the physical expressions of these defects, and disease progression. In turn, this may direct the development of future treatments.

Study Type: Observational
Study Design: Natural History, Longitudinal, Defined Population, Retrospective/Prospective Study

Official Title: Rett Syndrome Natural History

Eligibility

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