Author: SSAdmin

From a physio who has HSP

 

US physio Liz W has HSP and so is uniquely placed both personally and professionally to discuss exercise for people with HSP. Because symptoms vary so widely, be aware that what works for one HSPer may not be as effective for another, or indeed may increase the level of some symptoms such as spasticity.

 

Liz says “I cannot make specific recommendations for any individual because I do not know what their impairments are.  We are all at differing levels of ability in this disease process. What I am trying to do is present characteristics of a spastic disease as they relate to deficits in mobility and what specific exercises may be helpful in addressing the deficits.”

 

Walking is a complicated act. It actually is initiated from the trunk. My professional view as a physiotherapist, and personal view as an HSPer, is that walking starts at the abdominals/pelvis, not the foot.

 

Decreasing spasticity is vital for HSPers. Oral baclofen (or other drugs) are possibilities for decreasing spasticity, as is the pump, but I can’t speak of those.

 

Here are some therapeutic exercises that can help alleviate spasticity and associated symptoms:

 

1. Lying on your back with knees bent, feet flat on the floor, doing belly breathing. Breathe in slowly and deeply, allowing the belly to distend upwards, then breathe out slowly and fully, allowing the belly to collapse back down.

 

This exercise is for relaxation and awareness and initiates a range of motion to your spine. It is important to NOT ever hold your breath while exercising, so this relaxation breathing forms the cornerstone of all the exercises to follow.

 

Try 2 sets of 5 repetitions to start with. Then build up to 2 sets of 10 repetitions in each workout.

 

2. Next, do gentle controlled lower trunk rotations by lowering the knees together to one side and then the other. Slow and controlled. It is a principle that trunk rotation decreases tone/spasticity.

 

Keep the head and shoulders still (don’t let them rotate). The arms can be extended sideways at shoulder level to give greater stability during rotation and help keep the head and shoulders still.

 

Start with 2 sets of 10 repetitions to each side, building up to 2 sets of 20 repetitions to each side as your stamina and strength improve. slow and controlled movement is the key to this one.

 

3. Gently separate the knees from one another to “stretch” the hip adductors. This external rotation motion of the hips is important. The external rotator muscle (obturator internus) forms a sling for the pelvic floor/bladder.

 

It is my thought that the habitual spasticity of the opposing internal rotators weakens the external rotators, stretching and weakening the pelvic floor = poor urinary control. I won’t talk about incontinence and the importance of pelvic floor and bladder relaxation here, but it is a related topic.

 

Start with 2 sets of 5 repetitions of knee opening and closing cycles, building up to 2 sets of 10 repetitions in each workout.

 

4. Now do pelvic tilts, still lying flat on your back on the floor. Flatten the lumbar (lower) spine into the floor and rotate the pelvis upwards (just the pelvis!) keeping the spine in contact with the floor. Do not lift any part of your back off the floor, including your lower back.

 

Remember, this is rotating the pelvis upwards, not lifting the bum or hips off the floor.

 

Start with 2 sets of 5 slow and controlled repetitions, paying attention to contraction of the abdominal muscles as you rotate the pelvis. Build up to 2 sets of 10 repetitions as your stamina improves.

 

5. Pelvic ‘clocks’ are good for abdominal muscles that help control posture and movement. Imagine that there is a clock lying flat on your lower abdomen. Twelve o’clock is at your belly button, six o’clock is at the top of your pubic bone. Your hip bones are at nine and three. You are going to engage your abdominals to move the pelvis. As you work, you will want to isolate the movement of the pelvis so that the upper body stays still and relaxed. Similarly, the hip sockets allow the pelvis to move without affecting the legs.Engage (contract) your abdominal muscles so that they bring your bellybutton down to your spine, lengthening the spine along the floor in response. This will create a pelvic tilt where your clock is now no longer flat, but down at the 12 o’clock position (bellybutton) and up at the six (pubic bone).

Use your abs to rotate your clock down to the side so that the three o’clock hip is lower. Continue to move around the clock, tilting the pelvis until the six o’clock position is lowest. This will create a small arch in your low back. Bring the movement around so that the nine o’clock hip is down and finally bring your bellybutton, the twelve position, to the low point again.

Repeat another cycle in the opposite direction, moving the 3 o’clock hip down. Repeat each direction 2 or three times and then reverse.

 

6. Glute strengthening: Your gluteal muscles or glutes are your bum muscles. Still lying on your back, squeeze your bum cheeks together as if you were pinching a $100 dollar bill and someone was trying to take it!!!!!!!! Sorry for the visual but in this economy, it could happen, so lock your doors! Hold the squeeze for about 8-10 seconds. Start with 5 or 6 repetitions with a short rest between. Work up to 20 repetitions in a slow and controlled manner but never sacrifice quality for quantity. If you start to tire and can’t hold the squeeze, then stop. Quality always prevails over quantity!

 

7. Bridging (lifting…) to give “strength” and awareness to the core. Using the hands to stabilise the body by making firm contact between the hands and the floor, initiate the upward movement at the hips, keeping the upper back on the floor and the chin in. You will feel the hamstrings and gluteal muscles contract, as well as the core abdominal muscles, as you elevate the hips.

 

Lift slowly until the hips are as high as you can go and hold that position for a few seconds. Then lower slowly back to the floor, totally relaxing for a second or 2 before lifting once again. Exhale slowly and continuously as you elevate the hips and inhale slowly and continuously as you return to the floor. Try starting with 5 repetitions, but stop if you get overly fatigued or experience pain e.g. in the lower back. Over time, work up to 10 repetitions in a set, and do 2 sets per workout.

 

8. Finish off your workout with heel slides, still lying on your back, with one hip rotated out and the heel on that side firmly on the floor (weight bearing contacts generally decrease spasticity). Stop short of straightening the knee out at the furthest point as you slide the heel away from you, as that would provoke a spastic pattern of hip internal rotation, knee extension (locked back), ankle foot plantar flexion/inversion (down and in).

 

Perform 2 sets of 5 heel slides on each leg to begin with, increasing to 2 sets of 10 slides per workout when able.

 

 

 

Most treatment currently appears to be the pharmacological management of spasticity. But there needs to be room for management of the impairments that spasticity causes. Sitting on a balance pad or a stability ball would also be helpful.

Liz

 

An HSPer shares his story of using it

 

In September 2014 there was an article about a new mobility device. Now there is a story from the US of someone who has bought and is using one.

 

Medical doctor and HSPer, Malin Dollinger talks about his experience with the TEK mobility device:

How does it work so differently? You bring the device to you when you want to use it from wherever you parked it last, moving it with a small hand remote-control. You sit on a firm pad, with a large opening near each end, then attach straps to each side of the pad. By operating the controls, the straps tighten and pull the attached pad, with you on it, up to a standing position, and the straps hold you there, standing, during the entire time you are using it. Your knees are inside special pads, and there is another pad touching your lower chest, so you are comfortable.

 

Each TEK device is customised for each person, after all kinds of body measurements are recorded. You can then ride around, anywhere you wish to go, in the standing position. You can reach things you could not reach otherwise, and you can then reverse the process and sit back down, on your scooter or in a chair.

 

The big difference from all previous mobility devices is that you don’t ride around sitting; you ride around standing. My big plus, and yours also, is that you can avoid/reverse the bone/calcium loss, and muscle atrophy, not to mention leg swelling, which happens when you spend all day just sitting. The unit is rather small, so it would fit anywhere, and doorways and tight spaces are not a problem. The width at the wheels is about 42cm and at the handle bars it is about 49 cm.

 

When finished for the day, you simply park it in the corner somewhere, with the hand control, and then you bring it back to wherever you are, when you need it next. It is extremely well-engineered and constructed, and took years to develop.

Malin Dollinger, M.D., SPG4

 

Availability in Australia

For more information on the device, including video, and how to get one in Australia, go to: http://pushmobility.com.au/catalogue/tek. The cost is around $24,000 and includes a face-to-face consultation for measurement and custom sizing of the unit, free delivery and 5 hours of personal training time to learn to use the device. Units can be inspected and trialled in Adelaide and Brisbane currently, and possibly other locations on request.

Lighter and cheaper than earlier models

 

It takes just 12kg of hardware to get Steven Sanchez walking again. He lost the use of his legs more than a decade ago in a BMX biking accident. Now Sanchez serves as test pilot for an innovative, lightweight exoskeleton from SuitX called Phoenix.

 

The wearable robot is the result of years of work and stands apart from bulky, heavy and extremely expensive exoskeletons, like the one a partially paralyzed man wore to make the opening kick at the 2014 Soccer World Cup.

 

“It felt really freeing, being able to stand up and feel my legs move around and being able to move through the hallways without people kind of afraid of a wheelchair,” said the 28-year-old Sanchez, describing to Mashable the first time he used Phoenix.

 

The Phoenix suit is not cheap, it costs an estimated $40,000, but similar systems from companies like ReWalk cost nearly twice as much.

 

“The whole idea behind designing an exoskeleton is that it borrows from robotics technology. But this one is based on… the way we walk,” said SuitX Founder and CEO Dr. Homayoon Kazerooni.

 

See the full article…

 

 

SOURCE: http://mashable.com/2016/02/03/suitx-phoenix-exoskeleton/#k0_X7HP8QEqU

 

These bionic legs are so light, paraplegics can wear them under clothing

 

By Lance Ulanoff, February 3, 2016

 

 

New study confirms potential benefits

 

A recently completed Australian study carried out by a Melbourne team, including two HSP clinician/researchers well-known to this Foundation, Michael Fahey and Barry Rawicki, has demonstrated the effectiveness of intrathecal baclofen for treating spasticity in HSPers with certain characteristics.

 

Objective

Hereditary spastic paraplegia (HSP) is a rare progressive disorder with few treatment options. We aim to describe the effect of continuous intrathecal baclofen (ITB) pump therapy on the clinical and functional outcomes of patients with HSP.

 

Methods

This is a retrospective study, using medical record audit data. Adult patients with HSP who had received ITB trial or therapy and had pre- and post-ITB assessment data available were eligible for inclusion. A purposefully designed audit tool was used. Patients with a successful trial received an ITB implantable SynchroMed® II pump. Demographic, clinical, and outcome data were obtained pre- and post-pump trial and pump insertion. Functional, spasticity, and mobility measures were compared pre- and post-ITB trial and pre- and post-ITB pump insertion.

 

Results

Data for nine patients were available. Six were male and the median age was 55 years (Q1, Q3: 46, 55). All received an ITB trial, and those who responded favorably (n=8) had an ITB pump inserted. Following ITB therapy, improvements were demonstrated for rectus femoris (P=0.04) and gastrocnemius spasticity measures (P=0.03). All patients reported subjective improvements in function, and three of the four with pre- and post-pump assessments, demonstrated clinically meaningful improvements in mobility. Side effects were minimized with appropriate dose titrations.

 

Conclusion

This is the largest retrospective patient study in the field. The potential benefits of ITB in selected patients with HSP were demonstrated.

 

Full text available here: https://www.dovepress.com/use-of-continuous-intrathecal-baclofen-in-hereditary-spastic-paraplegi-peer-reviewed-fulltext-article-CA

 

SOURCE: Dove Medical Press Limited 15 December 2015 Volume 2015:7 Pages 19—26 http://dx.doi.org/10.2147/CA.S91140

 

Use of continuous intrathecal baclofen in hereditary spastic paraplegia

 

Jessie Khera,1 Nadine E Andrew,1 Dominique A Cadilhac,1,2 Tara Purvis,1 Michael C Fahey,3,4 Hyam Barry Rawicki1

 

1Department of Medicine, Faculty of Medicine, Nursing and Health Sciences, Monash University, Clayton

2Stroke Division, Florey Institute of Neurosciences and Mental Health, Heidelberg

3Department of Paediatrics, Faculty of Medicine, Nursing and Health Sciences, Monash University, Clayton

4Department of Medicine, Melbourne University, Parkville, VIC, Australia.

 

 

The attempt to make them cheaper

 

Pharnext is a French drug maker developing a treatment for a ‘close cousin’ disease of HSP, namely Charcot-Marie-Tooth (CMT). CMT is an inherited muscular atrophy condition resulting in debilitating muscle weakness similar to HSP. The company is determined to keep any drug treatment it produces affordably priced.

 

If Pharnext succeeds in its plans, it will charge $20,000 to $60,000 for annual treatments — a hefty sum, but considerably less than the kinds of drug prices that have triggered allegations of price-gouging among patients and consumer advocates. It could also show other drug makers that it’s possible to drastically reduce research-and-development costs to produce breakthrough treatments, which in turn would allow them to charge less.

 

Pharnext has “been a game-changer,” said Allison Moore, who has Charcot-Marie-Tooth, or CMT, and is the founder of the Hereditary Neurotherapy Foundation. “I do think that they will deliver on the pricing,” she said. “If the pricing can be low, that can also be a trend for these other rare diseases.”

 

See the full article…

 

 

SOURCE: http://www.statnews.com/2016/01/20/pharnext-rare-disease-charcot-marie-tooth-disorder/

 

This biotech company is trying to make a rare disease drug cheaper. Will it work?

 

By Dylan Scott, January 20, 2016

 

 

From a physio who has HSP

 

US physio Liz W has HSP and so is uniquely placed both personally and professionally to discuss exercise for people with HSP. Because symptoms vary so widely, be aware that what works for one HSPer may not be as effective for another, or indeed may increase the level of some symptoms such as spasticity.

 

Liz says “I cannot make specific recommendations for any individual because I do not know what their impairments are.  We are all at differing levels of ability in this disease process. What I am trying to do is present characteristics of a spastic disease as they relate to deficits in mobility and what specific exercises may be helpful in addressing the deficits.”

 

Exercise ball exercises

I’ve had inquiries from HSPers about exercising using a gym or exercise ball that you can sit on. They come in different sizes – the right one for you depends on your height and weight. For a good fit, find a size that when sitting on the ball, your feet are flat on the floor with your knees and hips at a 90° angle (thighs parallel to the floor).

Here’s a guide to the right ball size for you:
Height: 150 – 163cm             Ball size: 55cm
Height: 164 – 180cm             Ball size: 65cm
Height: 181 – 200cm             Ball size: 55cm

Without knowing specifics about anyone’s abilities, here is a beginners practice:

 

Try starting just sitting on the ball and keeping your balance. They are called stability balls, but are anything but that. Sitting on the ball keeping your balance is a challenge for non-HSPers too! Don’t underestimate the difficulty and make sure that you are in a safe place (no obstacles) if you fall off.

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Close your eyes and keep sitting there, then slowly turn your head from side-to-side

 

 

 

 

 

 

Then turn a bit further so that your upper body/shoulders turn side-to-side as well, but keeping your hips and lower body still.

 

 

 

 

Next put your hands on your lower abdomen and breathe in deeply so that you feel it expand and then exhale slowly with rounded pursed lips as if blowing out candles. This starts to activate the abdominal muscles.

 

 

 

 

 

Next keep your shoulders still and imagining a hula hoop around your waist, make slow circles with your hips a number of times one way and then the other, making sure to keep your feet flat on the floor. Make the motion smooth and circular. Do this with eyes open and then closed.

 

 

 

 

 

 

You can add – with eyes open, reaching your arms overhead to the right and down to the left, following a diagonal pattern on both sides and follow that pattern with your eyes.

 

 

 

Fitness

If you’re not fit or haven’t been exercising or experience significant spasticity, then just start with this program.

Set a timer for 10-20 minutes. Pay attention to how it feels with the different movements. Start slowly. You don’t want to go too heavy on exercise initially.

With your hips and knees bent and feet flat on the floor, you are “breaking up” the common extensor muscle pattern, which facilitates tone (contraction or tightness). Extensor muscles straighten or make the leg longer, such as when we stand. These include hip extensors (buttocks / gluteal muscles) knee extensors (front of thigh / quadriceps muscles) and ankle plantarflexors (calf muscles / gastrocnemius). You are activating your core (abdominal) muscles and causing movement in your spine, which is essential.

 

But just how to do that with HSP?

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HSP community member Victoria is passionate about travel and working with disadvantaged kids.

 

About a year ago we told you about her winning a Qantas award for volunteers. Now she hopes to inspire other HSPers to travel. She writes “Hey guys just wanted to share my article with you and hopefully inspire some more people with HSP to get out there and travel the world and not let anything ever stop them !!!

Thanks

Victoria

This is her blog: http://awol.com.au/what-travelling-with-a-disability-is-really-like/17721

 

Swimming holidays

 

 

Here’s another idea! There is a UK based company called SWIMQUEST … Open water swimming holidays for all abilities. They offer packaged swim instruction trips to different parts of the world, mostly around Europe, the Arctic Circle (!!!) and their closest trip to Australia, Coconut Island in Thailand.

Custom-designed trips are also a possibility and the goal everywhere is helping people learn to swim better. They pride themselves on undertaking any swim challenge and while they’ve trained competitive and extreme swimmers, they’ve also trained those simply wishing to improve their skills, overcome their fears or cope with a disability.

Training includes one-on-one swim coaching and video analysis. Clients regularly include asthmatics and arthritics, people with deep-rooted fear of the sea and recently, two people with multiple sclerosis. Their Thailand six-day trip looks delightful… and costs almost $4,000 for the swim instruction, lodging and most meals, but not including airfare (see “What’s Included” details here) http://swimquest.uk.com/thailand/

So if this sounds like you, or maybe for your partner or your children, contact Swimquest.

Maybe suggest the possibility of some swim training holiday vacations in Australia.

 

Disability Horizons and Accomable, a magazine and website for special travel needs.

 

 

Our mission is simple…to enable anyone to go anywhere.

 

We all know how hard it can be, with special needs, to plan travel. Srin Madipalli, a former lawyer who quit law practice to complete his MBA, and his childhood friend Martyn Sibley, a former product development executive, teamed up to create a magazine for travelers with special needs. This online magazine, Disability Horizons, co-founded in 2011 has since become the fastest growing disability-related lifestyle publication with over 40,000 regular readers and over 200,000 websites visits a year.

 

Yet even with such a resource, Srin, a keen traveler, with spinal muscular atrophy, realised it was still very difficult and time consuming to plan his own travels, so he used this frustration to create a website that would assist with the logistics of specialized travel. His co-founder Martyn also has the condition. Their travel adventures include activities as bold as mountain trekking in their wheel chairs, flying airplanes and scuba diving. The website, called Accomable started earlier this year with listings for lodgings as the initial focus, and now lists variously accessible places to stay in Australia, Belgium, Canada, Cyprus, France, Ireland, Spain, Thailand, UK, USA and other countries. They are currently gathering availability information for other special travel needs such as adapted taxis and medical equipment hire.

Online magazine:

http://disabilityhorizons.com/

Travel accommodations website:

http://www.accomable.com/

 

Crossing Countries – creating opportunities for people with disability to travel and volunteer

 

 

Challenging Boundaries, Changing Lives

 

Are you in the mood to travel but you don’t know where you want to go?

 

This could change your life! A group called Crossing Countries enables disabled people to volunteer abroad by matching a disabled person ‘the Traveller’ with a non-disabled ‘Travel Pal’ to work together, with the support of a team leader, to fundraise and plan their trip. The Crossing Countries team has just returned from their second volunteering trip to Durban, South Africa. They’re currently taking applications for their 2016 trip.

 

http://disabilityhorizons.com/2015/10/crossing-countries-challenging-boundaries-changing-lives/

 

 

 

 

 

 

 

 

From an expert in the field

 

Orthoses* for people with Hereditary Spastic Paraplegia (HSP)

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Christina Tsikos is a successful departmental head within one of Australia’s largest hospitals, Austin Health¹.

With over 15 years of clinical expertise, she has honed her skills in identifying and developing repeatable solutions, prescriptions and has delivered effective outcomes and patient centred care.

Christina has refined these skills within private and public sectors, and has developed a keen interest in enhancing people’s lives via innovation. Orthotic management of neuromuscular conditions and the application of sound biomechanical principles are areas of specialty for her.

Her team of Orthotists / Prosthetists have over 100 years of combined experience, and work in the spirit of collaboration to deliver exceptional patient outcomes.

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 What are Orthotists and what do they do

Orthotists are tertiary qualified Allied Health Professionals who assess and treat the physical and functional limitations of people resulting from illness or disability. Orthotic management involves the assessment / fitting of ‘orthoses’ – which are externally applied devices used to modify forces on the body.

Orthotic devices for people with HSP

Orthotic devices may be used for the purpose of improving mobility, reducing pain, managing musculoskeletal weakness, malalignment, pressure injuries, contractures and spasticity. Orthoses may be individually custom-made, customised or fitted as prefabricated devices.

For people with HSP, there may be many indications that make an orthosis worth considering. These may include various muscle weaknesses, most of which usually occur in the hips, knees, and ankles. Unaided, this might result in toes catching on the ground when walking – commonly known as ‘foot drop’. Spasticity or tight muscles can also result in decreased balance, and over time this may cause extra stresses on other joints. Numbness in the feet and lower legs (known as Peripheral Neuropathy) may also be a symptom of HSP. This can result in decreased standing balance, clawing of the toes, and bony areas under the feet. Any of these symptoms could cause increased pressure under the foot when walking, which over time might potentially develop into wounds.

How orthotic devices can help

The use of an Orthotic device can provide numerous benefits to someone with HSP. The main advantages may include:

• improving a person’s overall function
• conserving energy and increasing endurance when walking
• helping correct or maintain alignment of the legs
• improve stability of weak or paralysed muscles, thereby improving balance
• allowing anyone affected by HSP to be able to stand or walk for longer periods of the day
• assisting with providing a smoother walking pattern
• decreasing muscular / joint pain in the feet, ankles and knees
• making it safer to walk in the community with a reduced chance of tripping
• increasing a person’s confidence when going out of the house
• reducing the risk of wounds or skin breakdown, commonly caused by increased pressure.

Often, there are a range of options available, and an Orthotist can help navigate the way through a range of custom made and customised devices. The types of Orthotic products available to people with HSP may include any of the following:

 

 

 

 

 

 

 

 

 

 

 

 

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Custom Ankle Foot Orthoses (AFO, GRAFO) and dynamic carbon fibre orthoses

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Custom made Knee Ankle Foot Orthoses (KAFO)

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Where and how you can get help

If you, a family member or a friend would like further information about orthotic assistive devices, or if you would like to have an assessment to see if any orthotic options may be suitable for you, Orthotics departments can be found to be associated within many public hospitals. There are also many Orthotists working in private clinic environments. Ask your Neurologist or General Practitioner to make a referral for an assessment.

 

* Definition of Terms

Orthotics and Prosthetics – a clinical allied health discipline that deals with supportive devices for people with musculoskeletal weakness or neurological disorders (orthoses), and artificial limbs for people with amputations (prostheses).

Orthotic device / Orthosis (orthoses pl.) – a brace, splint, or other artificial external device serving to support the limbs or spine, or to prevent or assist relative movement.

Orthotist – the primary Allied Health clinician responsible for the prescription, manufacture and management of orthoses.

Musculoskeletal – relating to or denoting the musculature and skeleton together.

 

Written by Paul Ranalli and Christina Tsikos

¹ More information about the Orthotic and Prosthetic Department at Royal Talbot Rehabilitation Centre, located in Kew Victoria, can be found at http://www.austin.org.au/page/701

 

 

 

 

 

 

Operated hands-free by body movement

 

 

Imagine a wheelchair that’s faster, smaller and lighter weight than the others. Now imagine that wheelchair being hands-free and operated as the rider shifts or rotates in any direction.

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Physiotherapists are enthusiastic about the need to use the core abdominal muscles when using this wheelchair because of the potential for improving core strength and stamina. This is all possible with the Ogo Wheelchair.

 

It’s a wheelchair built on a Segway base by a New Zealand inventor who says that with larger wheels, this wheelchair becomes an all terrain vehicle that will do 20km/hr on beach sand. He says that in this wheelchair, disabled riders will be able to push a lawn mower again, and while this idea might not excite you, this is a game changer!

The Ogo Technology website says, “We are currently in the pre-production set up, and are expected to be up and going soon”.

Learn more in these short YouTube videos.

 

https://www.youtube.com/watch?v=ThwLzeEpP5I

 

 

And testing is getting cheaper

 

New techniques and technologies made possible by whole-exome sequencing (WES) and homozygosity mapping in a single step have significantly improved the ability to diagnose autosomal recessive disorders.

 

 

PURPOSE:

Homozygosity mapping is an effective approach for detecting molecular defects in consanguineous families by delineating stretches of genomic DNA that are identical by descent. Constant developments in next-generation sequencing created possibilities to combine whole-exome sequencing (WES) and homozygosity mapping in a single step.

 

METHODS:

Basic optimization of homozygosity mapping parameters was performed in a group of families with autosomal-recessive (AR) mutations for which both single-nucleotide polymorphism (SNP) array and WES data were available. We varied the criteria for SNP extraction and PLINK thresholds to estimate their effect on the accuracy of homozygosity mapping based on WES.

 

RESULTS:

Our protocol showed high specificity and sensitivity for homozygosity detection and facilitated the identification of novel mutations in GAN, GBA2, and ZFYVE26 in four families affected by hereditary spastic paraplegia or Charcot-Marie-Tooth disease. Filtering and mapping with optimized parameters was integrated into the HOMWES (homozygosity mapping based on WES analysis) tool in the GenomeComb package for genomic data analysis.

 

CONCLUSION:

We present recommendations for detection of homozygous regions based on WES data and a bioinformatics tool for their identification, which can be widely applied for studying AR disorders.

 

SOURCE: Genet Med. 2015 Oct 22. doi: 10.1038/gim.2015.139. [Epub ahead of print] PMID: 26492578 [PubMed – as supplied by publisher]

 

Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing.

 

Kancheva D1,2,3, Atkinson D1,2, De Rijk P4, Zimon M1,2,5, Chamova T6, Mitev V3, Yaramis A7, Maria Fabrizi G8, Topaloglu H9, Tournev I6,10, Parma Y11, Battaloglu E12, Estrada-Cuzcano A1,2, Jordanova A1,2,3.

1Molecular Neurogenomics Group, Department of Molecular Genetics, VIB, University of Antwerp, Antwerp, Belgium.

2Neurogenetics Laboratory, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.

3Department of Medical Chemistry and Biochemistry, Molecular Medicine Center, Medical University-Sofia, Sofia, Bulgaria.

4Department of Molecular Genetics, VIB, University of Antwerp, Antwerp, Belgium.

5Current address: Cell Biology and Biophysics Unit, European Molecular Biology Laboratory (EMBL), Heidelberg, Germany.

6Department of Neurology, Medical University-Sofia, Sofia, Bulgaria.

7Department of Pediatrics, Dicle University School of Medicine, Diyarbakir, Turkey.

8Department of Neurological, Neuropsychological, Morphological and Motor Sciences, University of Verona, Verona, Italy.

9Division of Pediatric Neurology, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.

10Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria.

11Department of Neurology, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.

12Department of Molecular Biology and Genetics, Bogazici University, Istanbul, Turkey.

 

 

South African genetics pioneer offers cheap tests

 

Whole-exome sequencing for $250

 

A South African genetics testing service is offering health insured clients in South Africa and the UK whole-exome genetic testing for $250, more than 10 times cheaper than going rates currently.

A company formed by genome pioneer Craig Venter will offer clients of a South Africa-based insurance company whole exome sequencing – sequencing all protein-making genes in the human genome – at a price that marks yet another dramatic decline in the cost of gene sequencing
Venter’s company, Human Longevity Inc, will provide the tests at a cost of $250 each through a special incentive program offered by Discovery Ltd, an insurer with clients in South Africa and the United Kingdom.

Read more….

http://www.reuters.com/article/2015/09/22/us-humangenome-venter-deals-idUSKCN0RM0UG20150922#Kk0b4z4JVBTR5fqX.97