Re: [Fwd: Question for Meg Hefner & Jan Van Dijk]

[Guest guest]

Simon,

I have not heard any such news. I will be thrilled when the gene(s) for

CHARGE are discovered. Even when it happens, don't get overly excited.

It probably won't be a one time announcement - once a probable gene is

detected, it needs to be tested on lots of kids with definite CHARGE.

For many genetic conditions, there turn out to be several genes on

different chromosomes. A new gene discovery is thought to be really

valuable if it can be detected in 25-50% of people with the condition.

And even then they are often extremely expensive tests. We often

encourage people to enroll in research programs in part because once a

gene is implicated, it will first be tested on those enrolled - they end

up with free testing.

Anyone who is not already part of research for the gene for CHARGE (it

involves drawing blood on the child with CHARGE and both parents) can

contact Fernbach at Baylor - she is the contact for Dr. Seema

Lalani's research

fernbach@...

Meg

Meg Hefner MS

Genetic Counselor and Clinical Associate Professor of Pediatrics

St. Louis, MO

> -- Question for Meg Hefner & Jan Van Dijk

Date: Sun, 11 Jul 2004 22:13:16 +0100

Reply-To: CHARGE

To: CHARGE

> Hi Meg & Jan

> Someone from the UK support group posted on our forum that her child's

> geneticist had heard that in the Netherlands someone had discovered

> the 'CHARGE' gene. Is this correct? I am querying this with her and

> asking for more information.

> Simon

>

> --

>

>

>

>

[Guest guest]

Dear all,

It is announced that in September during a meeting of parents of Charge

children, information will be given on " Charge gene(s). I am tryoing to

contact the source of this news. I keep you posted.

Jan van Dijk

The Netherlands.

Re: [Fwd: Question for Meg Hefner & Jan Van Dijk]

Simon,

I have not heard any such news. I will be thrilled when the gene(s) for

CHARGE are discovered. Even when it happens, don't get overly excited.

It probably won't be a one time announcement - once a probable gene is

detected, it needs to be tested on lots of kids with definite CHARGE.

For many genetic conditions, there turn out to be several genes on

different chromosomes. A new gene discovery is thought to be really

valuable if it can be detected in 25-50% of people with the condition.

And even then they are often extremely expensive tests. We often

encourage people to enroll in research programs in part because once a

gene is implicated, it will first be tested on those enrolled - they end

up with free testing.

Anyone who is not already part of research for the gene for CHARGE (it

involves drawing blood on the child with CHARGE and both parents) can

contact Fernbach at Baylor - she is the contact for Dr. Seema

Lalani's research fernbach@...

Meg

Meg Hefner MS

Genetic Counselor and Clinical Associate Professor of Pediatrics St.

Louis, MO

> -- Question for Meg Hefner & Jan Van Dijk

Date: Sun, 11 Jul 2004 22:13:16 +0100

Reply-To: CHARGE

To: CHARGE

> Hi Meg & Jan

> Someone from the UK support group posted on our forum that her child's

> geneticist had heard that in the Netherlands someone had discovered

> the 'CHARGE' gene. Is this correct? I am querying this with her and

> asking for more information. Simon

>

> --

>

>

>

>

[Guest guest]

Dear all,

It is announced that in September during a meeting of parents of Charge

children, information will be given on " Charge gene(s). I am tryoing to

contact the source of this news. I keep you posted.

Jan van Dijk

The Netherlands.

Re: [Fwd: Question for Meg Hefner & Jan Van Dijk]

Simon,

I have not heard any such news. I will be thrilled when the gene(s) for

CHARGE are discovered. Even when it happens, don't get overly excited.

It probably won't be a one time announcement - once a probable gene is

detected, it needs to be tested on lots of kids with definite CHARGE.

For many genetic conditions, there turn out to be several genes on

different chromosomes. A new gene discovery is thought to be really

valuable if it can be detected in 25-50% of people with the condition.

And even then they are often extremely expensive tests. We often

encourage people to enroll in research programs in part because once a

gene is implicated, it will first be tested on those enrolled - they end

up with free testing.

Anyone who is not already part of research for the gene for CHARGE (it

involves drawing blood on the child with CHARGE and both parents) can

contact Fernbach at Baylor - she is the contact for Dr. Seema

Lalani's research fernbach@...

Meg

Meg Hefner MS

Genetic Counselor and Clinical Associate Professor of Pediatrics St.

Louis, MO

> -- Question for Meg Hefner & Jan Van Dijk

Date: Sun, 11 Jul 2004 22:13:16 +0100

Reply-To: CHARGE

To: CHARGE

> Hi Meg & Jan

> Someone from the UK support group posted on our forum that her child's

> geneticist had heard that in the Netherlands someone had discovered

> the 'CHARGE' gene. Is this correct? I am querying this with her and

> asking for more information. Simon

>

> --

>

>

>

>

[Guest guest]

Dear all,

It is announced that in September during a meeting of parents of Charge

children, information will be given on " Charge gene(s). I am tryoing to

contact the source of this news. I keep you posted.

Jan van Dijk

The Netherlands.

Re: [Fwd: Question for Meg Hefner & Jan Van Dijk]

Simon,

I have not heard any such news. I will be thrilled when the gene(s) for

CHARGE are discovered. Even when it happens, don't get overly excited.

It probably won't be a one time announcement - once a probable gene is

detected, it needs to be tested on lots of kids with definite CHARGE.

For many genetic conditions, there turn out to be several genes on

different chromosomes. A new gene discovery is thought to be really

valuable if it can be detected in 25-50% of people with the condition.

And even then they are often extremely expensive tests. We often

encourage people to enroll in research programs in part because once a

gene is implicated, it will first be tested on those enrolled - they end

up with free testing.

Anyone who is not already part of research for the gene for CHARGE (it

involves drawing blood on the child with CHARGE and both parents) can

contact Fernbach at Baylor - she is the contact for Dr. Seema

Lalani's research fernbach@...

Meg

Meg Hefner MS

Genetic Counselor and Clinical Associate Professor of Pediatrics St.

Louis, MO

> -- Question for Meg Hefner & Jan Van Dijk

Date: Sun, 11 Jul 2004 22:13:16 +0100

Reply-To: CHARGE

To: CHARGE

> Hi Meg & Jan

> Someone from the UK support group posted on our forum that her child's

> geneticist had heard that in the Netherlands someone had discovered

> the 'CHARGE' gene. Is this correct? I am querying this with her and

> asking for more information. Simon

>

> --

>

>

>

>