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Ricki Lewis

Genetic Linkage

From Blue Lights to Gene Therapy: The Intriguing History of Crigler-Najjar Syndrome

February 28, 2018
Tags: Crigler-Najjar syndrome, gene therapy, rare diseases
Seeing Crigler-Najjar syndrome among recent news releases announcing upcoming gene therapy efforts conjured immediate images of an Amish farmhouse with a spooky blue glow emanating from an upstairs bedroom, where a small child, clad only in diapers and wearing goggles, slept beneath a “light canopy” suspended from the ceiling. The light – phototherapy or “bili lights” – breaks down the accumulating bilirubin that the tiny yellow body beneath cannot.

Most cases of neonatal jaundice are due to a transient blood type incompatability or blocked bile ducts, and vanish within days. Not so

Crigler-Najjar syndrome, which hampers the ability to convert the bile pigment bilirubin into a soluble form that easily exits in feces. Read More 
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Parent Roundtable: Before and After Gene Therapy

December 2, 2016
Tags: gene therapy, rare diseases
Eliza had gene therapy this past spring, and is showing small signs of improvement.
As the revamped 21st Century Cures Act winds its way through the lame duck Congress, I’m reminded of a spellbinding dinner on Sunday night, October 16. It was the eve of the annual "breakthrough summit" for the National Organization for Rare Disorders, and I’d introduced a group of new friends to share their stories of life with a child who has had, or will have, gene therapy. Read More 
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Jono Lancaster Fights Treacher Collins Disease With Attitude

October 28, 2015
Tags: Treacher Collins Syndrome, rare diseases, NORD
Jono Lancaster spoke at the National Organization for Rare Disorders (NORD) Breakthrough Summit, October 21.
When Jono Lancaster was born 30 years ago, his parents took one look at his face, and abandoned him. Today Jono, who has Treacher Collins syndrome, travels the world meeting kids with the condition and encouraging them to harness the greatest tool against the genetic disease – a positive attitude. Jono kicked off the National Organization for Rare Disorders (NORD) Breakthrough Summit October 21 by sharing his story.

People with Treacher Collins syndrome do not have certain facial bones, and about half have hearing loss. Only 1 in 50,000 people in the US has it, and about 1 in 10,000 in the UK, Jono's home. Most cases are autosomal dominant and due to mutations in the TCOF1 gene.

But this post isn’t about DNA. It's about an incredible young man who is smart, funny, and caring, and quite beautiful. Here in Jono’s own words, from the NORD conference:

“I was born with a genetic condition that affects my facial features. I have no cheekbones, and so my eyes dip down. I love my little ears, they don’t get cold at night. But I do need hearing aids.

I’m one of the lucky ones. More severely affected individuals need help with feeding and breathing. I met some kids who’ve had more than 70 surgeries to correct problems that would make their lives easier.

My birth parents had no idea. When I was born, they were in total shock. I was out of the hospital 36 hours after I was born. Social services found someone to look after me. The foster carer was a lady called Jean. She was very short, and all her kids were grown, and she had so much love to give. Social Services told Jean there was a child in hospital whose parents were horrified, and there was no maternal bond. Jean said, “How could you not love a child?” She took one look at me and said, “Hell yeah, let’s make this happen!” Read More 
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Tess's Tale: Social Media Catalyzes Rare Disease Diagnosis

September 17, 2015
Tags: rare diseases, Baylor College of Medicine, Tess Bigelow, Undiagnosed Diseases Network, NORD
Tess Bigelow
Attention to the plight of families with rare diseases continues to grow this week, providing a backdrop to another compelling tale of a family seeking a diagnosis for mysterious symptoms.

THE UNDIAGNOSED DISEASES NETWORK
The National Human Genome Research Institute’s Undiagnosed Diseases Network (UDN) just announced the UDN Gateway. This online application portal will guide patients to a growing national network of clinical sites, including six new ones and two genome sequencing centers. The Gateway replaces paper-based application to specific clinical centers for the few coveted slots. Read More 
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Aicardi Syndrome: Genome Sequencing Illuminates Another Rare Disease

July 1, 2015
Tags: Aicardi syndrome, genome sequencing, rare diseases
(NHGRI)
As the number of sequenced human genomes climbs and the time to sequence a genome plummets, I find myself drawn more to the small stories, the incremental revelations that may affect only a few individuals.

A few weeks ago, a study published in Investigative Ophthalmology and Visual Science caught my attention. Researchers at the Translational Genomics Research Institute (TGen) in Phoenix used exome and genome sequencing to probe the origins of a condition I'd never heard of -- and the findings were surprising. Read More 
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No Ice Buckets or Pink Ribbons for Very Rare Genetic Diseases

October 10, 2014
Tags: rare diseases, ice bucket challenge, Leber congenital amaurosis, Batten disease, giant axonal neuropathy, juvenile Huntington disease, ALS, breast cancer
As enthusiasm for dumping ice on one another fades with autumn and October brings pervasive pink, I wish that attention would turn to families confronting diseases not as well known as ALS and breast cancer.

HOW RARE IS RARE?
According to the National Organization for Rare Disorders, “rare disease” in the U.S. means affecting fewer than 200,000 people. These conditions number about 6,800, collectively affecting nearly 30 million Americans or 1 in 10 people.

Many are single-gene diseases. That means that the chance of more than one family member being affected is quite high (see Mendel's first law). Unlike those, most (>90%) cases of ALS and breast cancer aren’t inherited as single-gene traits, but are sporadic. Mutations happen during a person’s lifetime in somatic cells, perhaps due to an environmental trigger. A family with one member who has ALS wouldn't have as great a chance as it affecting another as a family with Huntington disease, for example.

With so many causes of rare diseases, comparing statistics is an apples-and-oranges exercise. But I collected a few anyway, for prevalence (the percentage of a population with a particular disease at a given time). Read More 
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Treat Cellulite, or Rare Diseases?

April 11, 2012
Tags: Cellulite, rare diseases, Ricki Lewis, The Forever Fix, Today show, Cellulaze, NORD, CheckOrphan, Canavan Research Illinois, Cystinosis Research Foundation, Hannah's Hope Fund
“Next, news that all women will want to hear!” teased the commentator on the increasingly imbecilic Today Show.

Soon I learned that, finally, we womenfolk need no longer suffer from the “horrible, dimpled ‘orange peel’ skin” of cellulite. The new miracle cure sounded like “cellulase,” an enzyme that breaks down wood.

Googling, I soon discovered that “Cellulaze” is instead a new laser technique that “pinpoints and disrupts dimpled pockets of herniated fat” and melts away the collagen cords that hold in place the vile lipid, while promoting formation of new collagen and elastin. It joins a long list of cellulite remedies, including sound waves, radio waves, massage, retinol, red algae patches, and extracts from licorice roots, horse chestnut, and kola. The market is $2.3 billion. Read More 
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Anticipation

February 25, 2012
Tags: rare diseases, rare disease day, spinocerebellar ataxia type 2, SCA2, SCA1, fragile X syndrome, expanding triplet repeat, genetic testing, ALS, Lou Gehrig's disease, Parkinson's Disease, Huntington's disease, myotonic dystrophy, amyotrophic lateral sclerosis, Carly Simon, Anticipation, X chromosome, mutation, Ricki Lewis, The Forever Fix: Gene Therapy and the Boy Who Saved It
Jordan and Hailey Kohl. Spinocerebellar ataxia type 2 affects several members of their family, including Jordan.
“Anticipation .. is keepin’ me waitin’,” sings Carly Simon in her song made famous in a ketchup commercial. But “anticipation” in the genetic sense is just the opposite of Carly’s croon – it means a disease that begins earlier with each generation.

Doctors once blamed patients for anticipation, as if people with sick older relatives could worry themselves into suffering similarly. Then, in 1991, discovery of a new type of mutation explained the curious worsening of fragile X syndrome: an expanding triplet repeat.  Read More 
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Personal Genome Sequencing: Too Much Information?

October 18, 2011
Tags: whole exome sequencing, human genome, DNA, Michael Hayden, James Watson, Han G. Brunner, International Congress of Human Genetics, Complete Genomics, Radoje Drmanac, Segolene Ayme, Joris Veltman, Luanne Hudgins, OrphanNet, rare diseases, Huntington's disease, BRCA1, Lynch syndrome, incidentaloma, Leslie Biesecker, National Human Genome Research Institute, Personal Genome Sequencing: Too Much Information?, ICHG2011
October 11-15, 6,200 researchers and clinicians met in Montreal for the 12th International Congress of Human Genetics. After my brain recovered from the long days of meetings, one panel discussion emerged as my favorite: what I thought was going to be a dull comparison of DNA sequencing technologies turned out to be a spirited look at  Read More 
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