GENETIC DISORDERS IN THE NEWS

25/01/17 – CHILD GENE STUDY IDENTIFIES NEW DEVELOPMENTAL DISORDERS

A major genetic study has identified 14 new childhood developmental disorders.

Scientists sequenced the genes of thousands of children from across the UK and Ireland with rare, undiagnosed conditions.

The research, in the journal Nature, was co-ordinated by the Wellcome Trust Sanger Institute near Cambridge.

Matthew Hurles, who led the study, said it “ended the odyssey for parents who’d spent years trying to find the cause of their child’s condition”.

16/07/15 – 100,000 GENOMES PROJECT UPDATE

The main phase of the Genomics England 100,000 Genomes Project is now well underway with patients being recruited through 11 NHS genomic medicine centres and more centres due to come onboard soon.

The Project aims to sequence 100,000 whole genomes from NHS patients by 2017. A whole genome includes the complete set of a person’s genes, 25,000 genes comprising 2% of the entire genome, and all the genetic material in-between, the remaining 98% of the genome. By doing this, scientists and healthcare professionals will gain a better understanding of how certain diseases develop, who may be susceptible to them and what treatments are most likely to be effective. This will ead to improved testing, faster diagnosis and, in time, novel therapies. The first patients to receive a diagnosis through the Project took place in March this year.

Those eligible to participate are NHS patients with specific rare diseases, certain members of their families, and patients with cancer. The Project is already strengthening the links between research and clinical services to allow patients to more quickly gain the benefits of advances in genetic technology.

By undertaking this project the UK is the first country to introduce whole genome sequencing into its mainstream health system.

For more information visit: http://www.genomicsengland.co.uk/back to top…

06/06/15 – EUROPEAN HUMAN GENETICS CONFERENCE – ESHG 2015

European Human Genetics Conference – ESHG 2015

June 6 – 9, 2015, Glasgow, Scotland, UK

Official event website https://www.eshg.org/eshg2015.html

By Emily Clarke, Genetic Counsellor

The European Human Genetics Conference is a very exciting and dynamic event, which this year was held in the UK. It is a forum for all workers in medical genetics to review the most recent advances in the field and develop research collaborations. Over 3000 professionals attended and hundreds of presentations, workshops and educational sessions were delivered by leading clinicians and researchers from across the world.

The breadth of topics covered ranged from reproductive genetics and new diagnostic approaches, to population genetics and public services. Unfortunately it was not possible to get to everything but some of the highlights from the sessions I was able to attend are below.

Read more here…back to top…

15/08/14 – SEND: GUIDE FOR PARENTS AND CARERS

This guide explains how the system that supports children and young people with special educational needs and disabilities works.

It covers:

the law and statutory guidance on which the system is based
places to go for help and further information
details about changes to the system from 1 September 2014

It may also be useful for staff in:

schools and colleges
early years education settings

who are dealing with the parents and carers of children and young people with SEND.

01/08/14 – UK IS SET TO BECOME THE WORLD LEADER IN GROUND-BREAKING GENETIC RESEARCH

The UK is set to become the world leader in ground-breaking genetic research into cancer and rare diseases, which will transform how diseases are diagnosed and treated, thanks to a package of investment worth more than £300million.

The four-year ‘100,000 Genomes Project’ is being run by Genomics England in partnership with the company Illumina that will deliver infrastructure and expertise to turn the plan into reality. The landmark project will allow scientists to do pioneering new research to decode 100,000 human genomes – a patient’s personal DNA code and is on a scale not seen anywhere else in the world. It is part of the Prime Minister’s commitment to ensure the NHS as well as the UK’s research and life science sector is at the forefront of global advances in modern medicine.

Sequencing the genome of a person with a rare disease or cancer will help scientists and doctors understand how disease works. The project has the potential to transform the future of health care, with new and better tests, drugs and treatment. It is expected to provide a lifeline to thousands of families affected by rare genetic diseases and cancers.

The Prime Minister has pledged that the UK will map 100,000 human genomes by 2017.

http://www.bbc.co.uk/news/health-28488313 back to top…

09/05/14 – NEWBORN BABIES TO BE TESTED FOR RARE DISEASES

The number of conditions for which newborn babies in England are screened is to increase.

All babies born in the UK are already tested for common genetic conditions such as cystic fibrosis.

Now four additional, rarer disorders will also be checked for in the heel-prick blood test.

A year-long pilot study found 20 cases of the diseases in 700,000 babies tested.

26/04/14 – THE CHALLENGES OF RAISING A DISABLED CHILD

Curtis had been born with Coffin Lowry Syndrome – a rare genetic disorder. He has global delay in his development, which means he is affected both physically and mentally.

The spectrum is so huge that early on we had little idea as to how he would progress. There is no cure and no standard course of treatment.

In Curtis’ case his advancements have been slow. At six he doesn’t talk and his understanding is limited. He walks but not far due to the hypermobility in his joints. In many ways he is similar to a one-year-old.

02/04/14 – GROUND-BREAKING NEW REPORT BY GENETIC ALLIANCE

77 patient groups call for improvements in rare disease drug evaluation in a ground-breaking new report by Genetic Alliance.

Genetic Alliance UK today launch a landmark Patient Charter that highlights the concerns patients have about the new approach the Government and NICE are using to determine whether or not medicines for rare conditions are made available through the NHS.

The Patient Charter, which has been endorsed by 77 patient groups, sets out a list of recommendations to improve the way medicines for rare conditions are evaluated. This is the first time so many patient groups have come together to set out a united case for change. The Patient Charter published by Genetic Alliance UK shows patients are concerned that, while greatly needed, the existing process is opaque, potentially disruptive to the wider NHS and risks downplaying the patient voice.

The Patient Charter is intended to directly inform NICE in advance of its planned review of the HST evaluation framework, which it has committed to undertake before the end of 2014, and to provide a future reference point for the patient view on this issue. The recommendations have been endorsed by 77 patient groups, including Genetic Disorders UK, who support the need for change.

27/03/14 – JOANNE MILNE HEARS FOR THE FIRST TIME

Born with the rare condition Usher Syndrome 39-year-old Joanne Milne from Gateshead has been profoundly deaf since birth, and in her mid-20s the disease also claimed her sight.

Now the incredible life-changing moment that cochlear implants allowed her to hear for the very first time has been captured on video.

The moving footage, which was filmed by her mother at the Queen Elizabeth Hospital in Birmingham, shows the moment the implants were turned on – changing her life forever.

Watch the video here: https://genepeople.org.uk/newsroom/geneticdisordersinthenewsback to top…

24/03/14 – HARNESS OF HOPE

A mother’s invention that gave her wheelchair-bound son the chance to walk has been launched onto the worldwide market.

A Northern Ireland company has turned Debby Elnatan’s idea for a walking harness into a product that could transform the lives of countless disabled children.

Mrs Elnatan, a music therapist, came up with the concept to help her young son Rotem, who has cerebral palsy.

15/02/14 – A BOY AND HIS DOG DOCUMENTARY

This heart-warming video shows an abandoned dog’s incredible bond with a boy diagnosed with one of the world’s rarest illnesses.

Owen Howkins, 7, suffers from Schwartz-Jampel syndrome, a condition which leaves his muscle in a permanent state of tension.

The youngster said his life changed when his parents adopted Haatchi, a three-legged Italian shepherd who survived being hit by a train after thugs tied him to a railway line.

12/02/14 – FOOTY FANS WALK FOR JOSEPH’S GOAL

WIGAN Athletic fans will be ditching their cars for the short trip to the Reebok Stadium next month for their game with Bolton Wanderers … to raise money for Joseph’s Goal.

Following on from the hugely successful “Walk4Emma” three years ago, the supporters will once again walk to Horwich for the crunch game with their rivals to raise money for a good cause.

11/02/14 – MORE THAN STRICTLY WHEELCHAIR DANCING

While it may be that the BBC’s attempts to bring the popularity of Strictly to wheelchair dancing failed to be a floor-filler, Mik Scarlet says that dancing on and off wheels is becoming ever more popular.

03/02/14 – THE FIRST COMMUNITY SCREENING FOR A GROUP OF JEWISH GENETIC DISORDERS

The first community screening for a group of Jewish genetic disorders will take place at Finchley’s Sternberg Centre on February 9, launching a rolling programme of screenings across the UK during 2014. Until now, the only community-based screening programme has been for Tay-Sachs.

02/02/13 – DECIPHERING DEVELOPMENTAL DISORDERS (DDD) STUDY OF 6,500 UK FAMILIES

The Deciphering Developmental Disorders (DDD) study is aiming to make a difference. To date, more than 6,500 UK families of children with undiagnosed genetic disorders are registered for the study, which hopes to discover their major genetic causes.

Around 300 diagnoses have been given to children around the country and as more families join the study by contributing samples of their DNA, researchers say their ability to find new diagnoses will increase.

30/01/14 – NOW THIS IS HOW YOU FIND DISEASE GENES

Now THIS is how you find disease genes

28/01/14 – MAGNETIC RODS COULD HELP CORRECT CURVATURE OF THE SPINE, KNOWN AS SCOLIOSIS, IN CHILDREN

Children with crooked backs could benefit from a new treatment that uses magnetic rods to straighten the spine, say draft guidelines for England.

14/01/14 – THREE-YEAR-OLD GRACE, WHO HAS CONRADI HUNERMANN SYNDROME BECOMES A YOUTUBE SENSATION

Three-year-old Grace, who has Conradi Hunermann Syndrome becomes a Youtube sensation.

Watch here: http://www.nydailynews.com/news/national/video-girl-3-battles-genetic-ills-inspires-song-article-1.1579446back to top…

09/12/13 – THESE DISABLED MANNEQUINS WILL MAKE YOU RETHINK BEAUTY

We pass our lives under the gaze of perfection – no more so than at Christmas, when sculpted mannequins flaunt their athletic frames and enviable curves from glittering window displays. If we’re being honest, it’s how we’d all like to look.

On Zurich’s Bahnhofstrasse, the idea of perfection is being recast.

To mark the International Day of Persons with Disabilities, Swiss charity Pro Infirmis made this thought-provoking video to showcase mannequins modelled on those whose bodies do not conform to society’s ideals.

Read more here…
back to top…

08/09/13 – JK ROWLING HAS SAID SHE IS “ELATED” AT THE OPENING OF A MULTIPLE SCLEROSIS RESEARCH CLINIC

Harry Potter author JK Rowling has said she is “elated” at the opening of a multiple sclerosis research clinic named after her late mother.

Read more here…back to top…

16/08/13 – GREATWITHDISABILITY.COM

greatwithdisability.com provides students with a disability or long-term health condition with all the information they need as they apply for graduate jobs and go through the recruitment process. It specifically provides information which is relevant to them such as disclosing a disability, requesting adjustments, requiring support, gaps in the CV, lack of work experience, etc. Currently there is no other site that does this and with 9.1% of graduates in 2011 having declared a disability there is certainly a market for it.

16/08/13 – SICKLE CELL AND YOUNG STROKE SURVIVORS LAUNCH AWARENESS BILLBOARDS IN LONDON

Sickle Cell and Young Stroke Survivors (SCYSS) Launch Awareness Billboards in London.

Read more here…back to top…

14/08/13 – BRITISH SCIENTISTS HAVE IDENTIFIED MORE THAN 20 GENE MUTATION PATTERNS LINKED TO 30 DIFFERENT TYPES OF CANCER

A library of genetic changes underlying 30 of the most common cancers has been compiled for the first time by British scientists.

Based on data from 7,000 cancer sufferers, the research will help experts unravel the origins of cancer and pave the way to new treatments.

12/08/13 – PARKINSON’S DISEASE HAS BEEN LINKED TO GENETIC CAUSES

Parkinson’s disease is caused by a genetic defect that produces poor ‘housekeeping cells’, claim scientists who believe they are closer to treating the debilitating condition.

12/08/13 – TAY-SACHS DISEASE IS BEING INCREASINGLY DIAGNOSED IN PEOPLE WITH NO JEWISH INHERITENCE

Tay-Sachs is probably the best known “Jewish” disease. As many as one in 25 Ashkenazi Jews is a carrier of the defective recessive gene. Yet, among attendees at a recent conference, who came from as far away as Poland and Guatemala, only a handful were Jewish.

05/08/13 – CHILDCARE VOUCHER SCHEME: PLAN ‘WILL INCLUDE PARENTS WHO ARE CARERS’

The government says it wants to expand a planned childcare tax credit scheme to include parents who stay at home because they are full-time carers.

A 12-week consultation on the scheme, worth up to £1,200 a child, has begun.

04/07/13 – MARRIAGE BETWEEN FIRST COUSINS ‘DOUBLES RISK OF HAVING BABY WITH LIFE-THREATENING BIRTH DEFECTS’

Marriage between first cousins more than doubles the chance of having a baby with potentially life-threatening birth defects, a study of births in Bradford has revealed.

28/06/13 – UK GOVERNMENT BACKS THREE-PERSON IVF

The UK looks set to become the first country to allow the creation of babies using DNA from three people, after the government backed the IVF technique.

15/06/13 – US SUPREME COURT RULES GENES CANNOT BE PATENTED

The United States Supreme Court has ruled genes cannot be patented. The decision will have a big impact on the future of genetic research.

14/06/13 – DOGS MAY PROVIDE CLUES TO RARE GENETIC DISORDER

Dogs may provide clues to rare genetic disorder centronuclear myopathy which affects six in 100,000 babies and causes weakened skeletal muscles.

08/06/13 – PROFESSOR WITH HIS GENES ON AN APP

The professor who walks around with his genes on an app.

31/05/13 – JON SNOW WAXING FOR BIKE4GOOD.COM

Channel 4 News presenter Jon Snow is having his legs waxed for Duchenne Children’s Trust. If he raises £25,000 he will have his whole body waxed.

His colleague Krishnan Guru-Murthy is cycling from London to Paris.

For the full story watch these links:

http://www.youtube.com/watch?v=Lpb8zspMzd0&feature=youtu.beback to top…

13/05/13 – SPONTANEOUS GENE MUTATIONS LINK

Mutations in genes that occur spontaneously may contribute to congenital heart disease in children, according to a new study.

03/05/13 – TOUR THE CURE

Five British families welcomed a group of Dutch cyclists this month during their breathtaking 325-mile tour from Holland to raise awareness for the rare Marshall Smith Syndrome.

The families have children who are the only known cases of the incredibly rare Marshall Smith Syndrome in this country.

The five Dutch cyclists stopped with each of the families during their five-day tour which ended in Oxford.

Read more hereback to top…

24/04/13 – DISABLED PASSENGERS FEAR FOR THEIR SAFETY

More than a quarter of disabled rail passengers have suffered a hate crime or abuse, according to a survey.

Campaigners are concerned that plans to reduce rail staff numbers will have a serious impact on disabled travellers.

08/04/13 – BENEFIT CHANGES: WHO WILL BE AFFECTED?

Will yours be one of the thousands of families affected by the benefits changes introduced by the Government this month?

08/04/13 – CHANGES TO THE DLA

From 8 April 2013 the Government is introducing a new benefit called Personal Independence Payment (PIP) to replace Disability Living Allowance (DLA) for eligible working age people aged 16 to 64 with a health condition or disability.

The new payments are coming in because the Government believes the cost of DLA is too much and is rising.

05/04/13 – VIDEO WELCOME FROM DUNCAN SELBIE

The Department of Health has set up a new agency called Public Health England which brings together public health specialists in a single service.

Here Public Health England’s chief executive, Duncan Selbie, explains the organisation’s vision and remit.

31/03/13 – MY DARLING DOWN’S DAUGHTER IS BECOMING A WOMAN

Domenica Lawson was Princess Diana’s god-daughter. Here her mother, the film maker Rosa Monckton, writes about her experiences as Domenica becomes an adult.

26/03/13 – THE HEALTH AND CARE SYSTEM EXPLAINED

From April 1st the health care system in the UK changed.

Here is the Government guide to how the new provision works: https://www.gov.uk/government/publications/the-health-and-care-system-explained/the-health-and-care-system-explainedback to top…

18/03/13 – BRITAIN’S MOST CARING HEALTH WORKERS

Prime Minister David Cameron describes his experience of the NHS as the father of a child with a genetic disorder. He says: “When you have a disabled child you feel powerless….We reached a very low point. We got a very good care package in the end, but we were a bit slow off the mark about asking for help because you just cope, you find a way of managing.”

12/02/13 – PARTIAL BEDROOM TAX VICTORY FOR SEVERELY DISABLED CHILDREN

Parents with severely disabled children who are unable to share a room with their siblings are to be exempt from the Government’s under-occupation penalty, commonly known as the ‘bedroom tax’.
Local authorities will be allowed to exclude families with disabled children from the reduction in benefits for having a spare room, which is due to come into effect next month.

05/02/13 – GENETIC PATCH ‘STOP DEAFNESS’ IN NEWBORN MICE

A tiny “genetic patch” can be used to prevent a form of deafness which runs in families, according to animal tests. Patients with Usher syndrome have defective sections of their genetic code which cause problems with hearing, sight and balance.

05/02/13 – CHILDREN AND FAMILIES BILL

The new Children And Families Bill was published this morning, this will affect the provision of Special Educational Needs in schools.

25/01/13 – NEW DIAGNOSTIC TOOLS AND TREATMENTS

A multi-million Euro initiative is bringing together researchers from across the world to develop new diagnostic tools and new treatments for people with rare diseases and to connect research data in this area on a global scale.

Rare diseases – while individually uncommon – affect one person in every 17. 80% of rare diseases have a genetic component, and they include genetic kidney diseases like nephrotic syndrome and conditions like Huntington’s disease, ataxia and muscular dystrophy.

25/01/13 – ARE YOU ELIGIBLE FOR COLD WEATHER PAYMENTS?

If you receive Income Support or Income-based Jobseeker’s Allowance and have a disability or a disabled child you might be eligible for a Cold Weather Payment to pay extra fuel costs as temperatures plummet.

To find out if you meet the criteria go to:

https://www.gov.uk/cold-weather-payment/eligibilityback to top…

19/01/13 – ROBERT GREGORY NATIONAL ALKAPTONURIA CENTRE

A sufferer of a genetic disorder has seen his dream realised when the Robert Gregory National Alkaptonuria Centre was opened at the The Royal Liverpool Hospital this week.

Robert Gregory, 63, has a debilitating condition called Alkaptonuria which is known as Black Bone Disease because it makes sufferers bone go black and brittle.

Ten years ago he founded the AKU Society with his doctor, Dr Lakshminarayan Ranganath, and campaigned for a centre for the genetic disease to help future generations.

He is now hoping the unit will become a world centre of excellence for the study of the condition

10/01/13 – RESEARCHERS FIND GENETIC CAUSES OF VON WILLEBRAND

Researchers have uncovered genetic causes of Von Willebrand Disease, the most common hereditary blood-contacting disorder.

07/01/13 – 53,000 TRIBUTES TO COLEEN’S TRAGIC SISTER

53,000 social networkers paid tribute to Coleen Rooney’s sister Rosie McCloughlin, who died this week of rare genetic disorder, Rett Syndrome.

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