The International Rett Syndrome Foundation has funded a two-year grant to Anna Kalashnikova, a researcher at Colorado State University for basic MECP2 research. Most postdocs don’t get grants at that stage of their careers. This article captures her enthusiasm upon receiving the news:
Researchers at Oregon Health & Science University have discovered that brain-derived neurotrophic factor (BDNF) is severely lacking in brainstem neurons in mutations leading to Rett syndrome. This sheds light on what determines availability of the molecules involved in cardiorespiratory control.
Melior Discovery, Inc. announced that it has entered into collaboration with the Rett Syndrome Research Trust to screen drug-candidates in an in vivo model of Rett Syndrome.
Melior Discovery has developed world-class expertise in screening compounds for potential therapeutic activity in animal models. Melior will apply this expertise to the evaluation of large numbers of drug-candidates in a specialized model of Rett Syndrome. “This partnership is further illustration of Melior’s truly unique capabilities and competence in high throughput in vivo pharmacology,” said Andrew Reaume PhD, CEO, Melior Discovery.
Read more about this news at this link:
Source
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
Abstract
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
Correspondence: Professor JM Saraiva, Serviço de Genética Médica, Hospital Pediátrico de Coimbra, Av Bissaya Barreto, 3000-075 Coimbra, Portugal. Tel: +351 239 480 638; Fax: +351 239 717 216; E-mail: j.saraiva@hpc.chc.min-saude.pt
Publication
European Journal of Human Genetics advance online publication 18 April 2007; doi: 10.1038/sj.ejhg.5201835
Received 29 September 2006; Revised 8 March 2007; Accepted 17 March 2007; Published online 18 April 2007.
Abstract Source Link
http://www.nature.com/ejhg/journal/vaop/ncurrent/abs/5201835a.html
Summary
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