October 2014

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OCTOBER 2014 FACES E-NEWSLETTER

  1. CEC SPOTLIGHT: TARA BILLER, RN
  2. RECIPE OF THE MONTH
  3. SYNAPSE GENES IDENTIFIED AS KEY PLAYERS IN SEVERE CHILDHOOD EPILEPSIES
  4. FACES RESEARCH PROJECTS 2015
  5. FACES NOTEWORTHY PRESS
  6. FRESHFACES RECAP
  7. EPILEPSY FOUNDATION “INTO THE LIGHT” WALK
  8. FUNDRAISING CORNER: PUTTING FOR PURPLE
  9. TEAMFACES RUNS THE 2014 TCS NEW YORK CITY MARATHON

1) CEC SPOTLIGHT: TARA BILLER, RN

Tara Biller, RN joined the NYU Comprehensive Epilepsy Center in February 2014 and is excited to be a part of the center’s dynamic research team. She graduated in 2008 from The George Washington University with a BA in International Affairs and concentrations in Africa and Global Public Health. After three years in Washington, DC, working primarily in development at an international global security think tank, she moved to New York and joined The New York Stem Cell Foundation, an institute devoted to developing disease treatments through stem cell research. Following a desire to care for patients more directly, she enrolled in Columbia University’s accelerated entry to a practice nursing program, receiving a BSN in 2013.

Tara is currently involved with the center's cannabadiol drug trials for treatment-resistant epilepsy, and supports research studies related to Dravet syndrome and sudden unexpected death in epilepsy (SUDEP). Her nursing ideals are two-fold; care for each patient as if they were family, and always seek to learn more. She looks forward to graduating with a master's in nursing from Columbia University early next year as a Family Nurse Practitioner.

2) RECIPE OF THE MONTH

CLICK HERE TO VISIT THE NUTRITION SECTION OF OUR WEBSITE!

A recipe has been provided on the Purple Spoon before with zucchini pasta, however, this week Courtney Schnabel, MS, RD, CDN just purchased a new tool to help make veggies into an ultimate pasta substitute. A spiralizer is an inexpensive (only $10 on amazon!) kitchen tool that will turn any veggie into a starchy stand-in. It looks like a pencil sharpener and works almost exactly like one too. The result of using it produces long strands of spaghetti looking veggies. Zucchini season is coming to a close so make sure to get your last zucchini fix before the Fall gourds take over the menu. This recipe can be used with pesto sauce instead of tomato sauce which is just as delicious! Zucchini is a good source of vitamin C, all of the B vitamins, and is a great source of fiber! 1 cup of spiralized zucchini is only 45-50 calories! Compare that to 1 cup of cooked pasta which can be 160-180 calories!
 

Zucchini Pasta with Chicken Sausage, Sun Dried Tomatoes and Feta Cheese

Nutrition Facts per serving (serves 4): 315 calories, 20g fat, 10g carbohydrate, 3g fiber, 26g protein

Ingredients:

1 large zucchini or equivalent of 1lb (1 or 2 depending on the size)
½ sweet onion
2 cloves garlic
1 tablespoon olive oil
1 lb chicken sausage
½ cup dry white wine
4oz tomato sauce/stewed tomatoes (can use hunts as a base for a quick meal)
½ cup sun dried tomatoes
2 oz feta cheese

Directions:

  1. Spiralize your zucchini and set-aside
  2. Heat oil in the pan, dice onions and garlic and sauté until tender
  3. Remove the casing from the sausage (cut lengthwise with a knife and pull meat out of the casing). Add the meat to the hot pan and sautee until done. The pan should be getting hot and the sausage should be creating brown bits at the bottom of the pan
  4. Deglaze the pan with the white wine, scraping up all of those brown bits off the bottom of the pan. Let the wine reduce by half
  5. Add the tomato sauce (be careful not to add too much! Your sauce should be thick – when you add the zucchini, the natural waters in the zucchini will make the sauce thinner)
  6. Add the sundried tomatoes and the zucchini pasta and let the sauce thicken (about 5 minutes)
  7. Crumble feta on the top and serve

3) SYNAPSE GENES IDENTIFIED AS KEY PLAYERS IN SEVERE CHILDHOOD EPILEPSIES

By: Ruben Kuzniecky, MD

Findings Could Lead to New Drug Development and Personalized Treatment Strategies for Severe Epilepsy

Genetic mutations that may cause severe childhood epilepsies have been identified in crucial nerve cell structures by an international team of researchers organized by NYU Langone Medical Center epilepsy experts.

An international research team organized and co-led by Ruben Kuzniecky, MD, Co-Director of the NYU Comprehensive Epilepsy Center, found new causative gene mutations that affect the functioning of the synapse, a vital structure that facilitates communications among nerve cells. These mutations were found in some patients to be causative of severe epilepsy.

The team of U.S. and European scientists performed the largest collaborative study to date focused on the genetic roots of severe epilepsies. Their findings were published online Sept. 25 in the American Journal of Human Genetics.

"We knew that synaptic genes were important in epilepsy, but not to this extent," says Kuzniecky, a professor of neurology at NYU School of Medicine who serves as Co-Principal Investigator of the Epilepsy Phenome/Genome Project (EPGP). "With these findings, there is tremendous potential for new drug development and personalized treatment strategies for severe epilepsy -- which will happen sooner than later."

Epilepsies are among the most common disorders of the central nervous system, affecting up to 3 million U.S. patients. Up to one-third of all epilepsies resist treatment with antiepileptic medication and may be associated with other disabilities such as intellectual impairment and autism. Severe epilepsies are particularly devastating in children, and for many patients, no cause for the seizures can be identified.

There is increasing evidence that genetic factors may play a causal role in severe epilepsies. The current study, made possible through the collaboration of two international research consortia including the NINDS-funded EPGP/Epi4K consortium and the European EuroEPINOMICS consortium, assessed the role of genetic factors in the largest group of patients with severe epilepsy identified to date.

For the study, researchers sequenced the genomes of 356 patients with severe childhood epilepsies and those of both of their parents. Researchers looked for genes that had acquired new mutations in the children with severe epilepsies. In total, they identified 429 new mutations and in 12 percent of children, these mutations were considered unequivocally causative for the patient's epilepsy. In addition to several known genes for childhood epilepsies, the research team found strong evidence for additional novel genes, many of which are involved in the function of the synapse.

Researchers used a method called family-based exome sequencing, which looks at the part of the human genome that serves as the blueprints for proteins. When comparing the sequence information in children with epilepsy with that of their parents, the researchers were able to identify changes that arose in the genomes of the affected children. These "de novo" changes are increasingly recognized as the genetic cause for severe seizure disorders, but not all changes identified are necessarily pathogenic.

The most surprising finding was a gene called Dynamin 1, which was found to be mutated in five patients. Dynamins are structural proteins, which play a role in shuttling small vesicles between the body of the neuron and the synapse. When the researchers looked on a network level, they found that many of the genes that were found to be mutated in patients had a clear connection with the function of the synapse.

"This finding represents a paradigm shift, which gives us new hope for targeting our treatment strategies," said Dr. Kuzniecky. “Finding new molecules that can circumvent or overcome the limitations imposed by this mutation may be achievable in the very near future”, he added.

Dr. Tracy Dixon-Salazar, associate research director at Citizens United for Research in Epilepsy (CURE), a non-profit dedicated to finding a cure for epilepsy and increasing awareness of the disease, applauded the collaboration. "This clearly highlights that by working together, we can find new genes faster, helping us to explain what causes this devastating disease in children." she says.

The largest number of patients in the multicenter EPGP/EPI4K study came from the NYU Comprehensive Epilepsy Center (> 10 percent) and the seed grant for the study was funded earlier by FACES.

4) 2015 FACES FUNDED RESEARCH PROJECTS

1) HYPERFAMILIARITY: THE DEVELOPMENT OF A SCALE
PI: KAREN BLACKMON, PHD

Hyperfamiliarity is a type of paramnesia characterised by strong feelings of familiarity for unfamiliar people or faces. It has primarily been observed in populations with frontal and temporal lobe pathology, specifically populations with temporal lobe epilepsy (TLE). Typically, hyperfamiliarity is observed in the post-ictal stages of tonic-clonic seizures and, in rare cases during simple-partial seizures. Unlike other paramnesia’s such as Capgras syndrome (the delusion that a close family member, friend or spouse has been taken over by an imposter), or Fregoli syndrome (the delusion that different people are in fact a single person in different disguise or with an altered appearance), hyperfamiliarity is not a symptom of delusion but instead the result of a ‘mismatch’ between the neural systems underlying emotion and facial recognition. The purpose of the current study is to investigate the reliability and validity of a newly developed scale designed to capture symptoms of hyperfamiliarity in epilepsy patients. To establish scale validity, we will examine the relationship between self-reported symptoms and objective performance on facial recognition and memory tasks. The study further aims to investigate the prevalence of hyperfamiliarity symptoms in the normal population and to establish a clinical cut off score for diagnosis.

2) DETECTING ICTAL IMPAIRMENT OF CONSCIOUSNESS USING A SIMPLE TASK
PI: DANIEL FRIEDMAN, MD

In this pilot study, we will assess the ability of a simple protocol to detect impairment of awareness in both the inpatient and outpatient setting. We will examine patients’ abilities to perform a standard, simple task (repeating the time) during their seizures. To accomplish this, we will use SmartWatch, a commercially available device, to help record audio during seizures. In the first arm of the study, we will study inpatients admitted to the epilepsy monitoring unit (EMU) at NYU Langone Medical Center and compare the audio data captured by SmartWatch during seizures with gold standard video EEG recording. In the second arm of the study, we will assess whether using SmartWatch to help record audio data during seizures in the outpatient setting is feasible. Lastly, we will determine the reliability of patients at assessing their own level of impairment during a seizure by comparing their perception of their seizures to the above data we gather. In doing so, we hope to examine whether patients are accurate self-reporters of their seizure symptoms and whether a simple, novel technology can assist with seizure detection.

 

3) DISRUPTION AND RESTORATION OF MEMORY CONSOLIDATION DURING SLEEP IN EPILEPSY PATIENTS
PI: Anli Liu, MD

Strong converging evidence reveals the importance of sleep for learning and memory. Patients with temporal lobe epilepsy (TLE) can have abnormal electrical activity, called interictal epileptiform discharges (IEDs), during sleep. By disrupting brain activity which transfers memories into long-term storage, IEDs may contribute to memory dysfunction in epilepsy patients. Understanding how these patterns may disrupt the stabilization of memories during sleep may help clinicians better manage this important issue which affects quality of life in many epilepsy patients.

 

 

 

4) FOCAL CORTICAL DYSPLASIA DETECTION USING MULTI-SITE CLINICAL MRI
PI: HEATH PARDOE, PHD

Most people with epilepsy will receive an MRI scan at some point during their treatment. The aim of this project is to use an MRI scan, in combination with advanced computational methods, to locate brain regions that cause seizures. The location in the brain that causes seizures is important information used by physicians to plan a treatment strategy for the individual patient.

 

 

 

 

5) THE INTERACTION BETWEEN AUTISM SPECTRUM DISORDERS AND EPILEPSY
PI: ALEJANDRO SALAH, MD, PHD

Autism spectrum disorders (ASD’s) are developmental disorders characterized by social and emotional deficits often associated with epilepsy. I will use the Timothy syndrome mouse model (TS2-neo mice), an established mouse model for autism developed in Dr. Richard Tsien’s Lab, through an L-type calcium channel mutation (CaV1.2) to investigate their seizure tendency compared to normal animals using long-term video-EEG. These mice develop an autism phenotype prior to 3 months of age, but the time course of abnormal electrical brain activity is not known. These experiments are critical for a better understanding of the relationship between autism and epilepsy.

 

 

6) AED ADHERENCE, DEPRESSION AND QUALITY OF LIFE IN CHINESE PATIENTS WITH EPILEPSY
PI: TANYA SPRUILL, PHD

Epilepsy self-management has been identified as a priority research area by a number of clinical and public health organizations. We have established a multidisciplinary collaboration between NYU Langone’s Departments of Neurology and Population Health to develop and evaluate a set of innovative, technology supported tools to improve antiepileptic drug (AED) adherence and depression, and in turn, quality of life (QOL) and clinical outcomes. A major focus of this work to date has been the translation and cultural tailoring of these tools for African American and Hispanic patients. However, Chinese patients comprise approximately 13% of the Bellevue epilepsy clinic population from which our study participants are recruited; these patients are currently unable to participate in and potentially benefit from this research. Little is known about the factors that contribute to AED non adherence and depression among Chinese patients with epilepsy, particularly in the United States. Identifying the most important predictors will inform the selection of intervention targets and the development of tailored self-management tools to improve outcomes in these patients. In collaboration with the NYU Center for the Study of Asian American Health (CSAAH), the proposed study will examine a broad range of potential predictors of AED adherence, depression, and QOL in Chinese epilepsy patients

5) FACES NOTEWORTHY PRESS

Top 10 National Press Articles

1) PITINO SPEAKS TO BENEFIT EPILEPSY AWARENESS
2) PASSING DRIVERS HELP SAVE LIFE OF TODDLER TURNED BLUE AND HAD SEIZURES
3) ZIMBABWE: EPILEPSY - MOVING BEYOND MYSTICISM
4) LOW CARB KETOGENIC DIET SPEEDS WEIGHT LOSS: AIDS DIABETES, EPILEPSY AND CANCER
5) THE TRUTH ABOUT EPILEPSY
6) WITH EPILEPSY UNDER CONTROL, JEREMY JEFFRESS IS BACK ON THE MOUND
7) EPILEPSY CAUSED BY BRAIN TUMOR
8) MUM BLOCKED BUS TO RESCUE EPILEPTIC DAUGHTER AFTER DRIVER REFUSED TO STOP
9) TREATING EPILEPSY STARTS WITH DIAGNOSIS
10) DEMANDS FOR MEDICAL MARIJUANA RESEARCH GROW IN N.J., NATION DRIVEN BY HOPEFUL PATIENTS, FAMILIES

6) FRESH FACES RECAP

Launch event freshFACES Cocktail Party raises $100,000 and epilepsy awareness

Michael Weisberg; Dr. Orrin Devinsky;
Laura Crandall; Leah Weisberg; and Victor Calise

The first-ever freshFACES Cocktail Party took place on Thursday, September 18, 2014 at espace in Manhattan, raising $100,000 for FACES

The evening was a tremendous success with nearly 250 guests in attendance. Keynote speaker, Dr. Orrin Devinsky, explained the importance of the FACES mission, and why it’s crucial to raise funds for research, programs, and services.

Throughout the night, attendees took to social media tweeting and posting pictures of the event under the #ShowUsYourFACES hashtag. Attendees had a fantastic time participating in the "freshExperience Stations" such as hand massages, wine and olive oil tastings, caricatures, and palm readings.

An auction run by CK Swett elicited feverish bidding on vacations to destinations like Jamaica and Las Vegas. The event culminated with a set by DJ Andrew Gangi that brought guests to the dance floor. Before the night was over, guests were already signing up for next year’s event.

Stay tuned for details on the freshFACES 2015 Cocktail Party!

For more information, please contact Alyssa Giorgio at alyssa.giorgio@nyumc.org or 646-558-0825


The freshFACES Committee: Natasha LaDew;
Gaye Pecker; Kate Picco; Alexandra Nicklas;
Julia Buldo-Licciardi; Sharon Shandler;
Liza Kirsh; Lauri Herman; Christine Purdue;
Stacey Weiss; Liz Cantalamessa

Auctioneer CK Swett

Chad Stark and friends

Lauren Alessio; Christine Purdue;
Roey Cofrancesco

Robert Hougie; Michelle Brilliant;
Deborah Devinsky; Dr. Orrin Devinsky


7) EPILEPSY FOUNDATION “INTO THE LIGHT” WALK
 

Staff members Rebecca Kornstein and
Luis Valero at the FACES tent.

FACES at NYU Langone Medical Center was a sponsor at the Epilepsy Foundation of Metropolitan New York's 3rd Annual “Into the Light Walk”. This year's event was held at South Street Seaport on Sunday, September 21st. The walk was preceded by music, entertainment, and display tents by all participating foundations. All proceeds went to epilepsy awareness, education and empowerment programs. These include the Foundation's epilepsy 101 and seizure first aid trainings which staff provide free of charge to area schools, companies, school nurses, first responders, and throughout the community by request. For more information about the Foundation's programs and services, visit www.efmny.org or call 212-677-8550.

 

 

 

8) FUNDRAISING CORNER

PUTTING FOR PURPLE

By: Melanie Harmon

 

Emily Harmon

Emily Harmon

Sunday, September 28 was a picture-perfect Sunday in our small town west of Boston. The 1st Annual “Putting for Purple: A Mini-Golf Fun-Raiser” was a huge success, bringing together our community to raise money for FACES and epilepsy awareness.

 

Emily Harmon is a spirited, brave little girl who was diagnosed with absence epilepsy in August of 2013. The past year has been filled with doctor appointments, blood draws, and unfortunately, failed treatment medications. On May 31, 2014, she suffered a grand mal seizure.

Seeking the best care for our daughter, we traveled to NYU to meet with Dr. Devinsky. For the first time in many months, we felt optimistic about Emily’s treatment and knew we had found the most compassionate, experienced medical team to see us through this.

Emily with her brothers and friends.

Inspired by the dedication of Dr. Devinsky and his team, who truly believe one seizure is too many, I searched for a way to give back. I decided to run the NYC Marathon as a member of TeamFACES. Spreading the word through Facebook was easy and I have been amazed by the support and generosity of our family and friends. I am looking forward to wearing my FACES race shirt on November 2.

The marathon training and fundraising have been so therapeutic for me and our children wanted to get involved with fundraising for FACES too. When we brainstormed ideas as a family, “Putting for Purple” was born. Emily was nominated Committee President. She and her two older brothers went to work. Brett, age 11, drafted a flyer and Josh created a website. They made plans for the day and spread the word to their friends via Instagram. The excitement began to build and local families were notified of the event via flyers and posters in the town schools, Facebook, and an article in the community newspaper.

Golfers registered in advance or at the door for a donation of $10 per golfer. We gave out “Putting for Purple” awareness bands and sold t-shirts. A clown was on hand for face painting and animal balloons. Older children were recruited for a free tattoo station.

We welcomed 220 golfers and hundreds of other spectators who came to lend their support. There were children of all ages and adults enjoying the beautiful day, with family-friendly entertainment and contributing their time and money for epilepsy research and awareness.

In all, Putting for Purple raised over $9,000.00, which will be contributed by my children to my marathon campaign. They feel proud, supported, and more optimistic about a healthier tomorrow for Emily and others suffering from epilepsy.

9) TEAMFACES RUNS THE 2014 TCS NEW YORK CITY MARATHON

WHAT INSPIRES YOU TO RUN?

Is it to stay healthy and in shape? Has running become a hobby? Is it because you are challenging yourself? Could it be to reach a goal or milestone?

For 7 runners on November 2nd, inspiration to run 26.2 miles will be driven by their commitment to a cause, their dedication to raise funds and awareness for FACES, and their support of the epilepsy community.

TeamFACES will run the 2014 TCS New York City Marathon to honor the families and individuals affected by epilepsy every day. Through their strength and determination, they will not only cross the finish line in Central Park, but they will let millions of spectators and thousands of other athletes know just how important it is to fund the FACES mission.

During months of rigorous training, each runner set a goal to raise a minimum of $5,000 each. By the beginning of October over $77,000 was already raised! FACES cannot thank our runners enough for their commitment.

If you would like to join us at the FACES Cheering Station on November 2nd (88th Street & 1st Avenue in Manhattan), please contact Alyssa Giorgio at alyssa.giorgio@nyumc.org.

BELOW PLEASE READ MORE ABOUT EACH RUNNER, AND CONSIDER MAKING A DONATION TO EACH OF THEIR PERSONAL FUNDRAISING PAGES.

SUSAN COHEN

Susan Cohen’s superhero son, Elliot, has motivated her to join TeamFACES as part of their family’s commitment to raising money and supporting research for epilepsy and tuberous sclerosis complex until there is a cure. It is Susan’s privilege and honor to run the NYC Marathon on behalf of her son’s strength and other children fighting the same battle. CLICK HERE FOR SUSAN’S FUNDRAISING PAGE

 

MELANIE HARMON

Melanie Harmon decided to run with TeamFACES to spread hope for seizure awareness, control, and eventually a cure. Her daughter Emily’s positivity and amazing spirit while fighting epilepsy fuels Melanie’s training for the NYC Marathon. Fundraising has brought their family together and enables them to feel optimistic about a healthier future for Emily and others affected by epilepsy. CLICK HERE FOR MELANIE’S FUNDRAISING PAGE

 

LAUREN & KEVIN HEINLEIN

Lauren and Kevin Heinlein joined TeamFACES, taking the leap to run the NYC Marathon together! They believe the doctors and nurses at the NYU Comprehensive Epilepsy Center and NYU Neurology/Neurosurgery departments gave their daughter a second chance. By fundraising for the race, they can support the medical staff’s efforts and give back. CLICK HERE FOR LAUREN & KEVIN’S FUNDRAISING PAGE

 

KATIE MCQUERREY

Katie McQuerrey’s commitment to her son Irving is the driving force behind running this year’s NYC Marathon. She joined TeamFACES to give back to an organization that has supported her family over the years. This race is another mark on their journey towards finding a cure. CLICK HERE FOR KATIE’S FUNDRAISING PAGE

 

KEVIN MERRITT

The Merritt family strongly believes in the importance of raising awareness for FACES, which is why Kevin has decided to run with TeamFACES in the upcoming NYC Marathon. Through the team's efforts, the Merritt’s hope to improve the lives of people battling the challenges of seizures, including their son, Teddy. This is Kevin’s 2nd Marathon with TeamFACES! CLICK HERE FOR KEVIN’S FUNDRAISING PAGE

 

RICHARD SHANE

Richard Shane is running with TeamFACES to show those living with seizures can control their epilepsy, not the other way around! Richard is 10 years seizure free, after 22 yrs of 3,000 seizures and 2 brain surgeries. He’s training for his 2nd marathon with TeamFACES, while raising funds to help others have the same blessing he’s been given. CLICK HERE FOR RICHARD’S FUNDRAISING PAGE

NEXT LECTURE: WEDNESDAY OCTOBER 15TH, DEEP BREATHING AND EPILEPSY
PLEASE CLICK HERE TO VISIT THE PEACE OF MIND LECTURE PAGE

 

The FACES PET RELATIONSHIP PROJECT is made possible
by a generous grant from Amie's Place Foundation.