Lisa and Steven Yourman and their two teenage children have all the trappings of the typical suburban Jewish family. A ketubah (Jewish marriage contract) and family portraits are displayed prominently on the wall of their split level home, their cat roams around the books, electronics, and other possessions of a busy family life, and a basketball hoop and four cars occupy their driveway. But their Fair Lawn home also has signs of their remarkable challenge: the medical equipment and cartons of medical supplies necessary to care for Sarah and Jeffrey, both of whom have cystic fibrosis.
Cystic fibrosis (CF) is a genetic disease affecting about 30,000 people in the United States. It is more prevalent in Caucasians. The incidence among Ashkenazi Jews is similar to that for Tay-Sachs: About one in 29 Ashkenazi Jews is a carrier. Carriers have no symptoms, but when two carriers have a child there is a one in four chance that the child will have CF.
The recent film “Extraordinary Measures” tells the real-life tale of a family with two children who are suffering from a fatal genetic disorder. Their father takes drastic steps to encourage and support the work of a brilliant scientist, whose insight leads to a miracle drug that saves the lives of the children. The CF story may have a similar path to a happy ending — with the work of some extraordinary Israeli physicians and researchers leading to a new approach to cure CF.
The CFTR protein is the source of all problems in cystic fibrosis. CFTR stands for cystic fibrosis transmembrane conductance regulator. Its normal function is to move salts across cell membranes throughout the body — a process that is essential to the proper functioning of the lungs, kidneys, pancreas, and other organs, as well as the normal growth and development of the vas deferens, a structure that transports sperm in men.
To be considered for the clinical study on the new drug Ataluren, originally called PTC124, CF patients “must know their genetic mutation,” said Teaneck resident Dr. Jay Barth, executive director of clinical development at PTC Therapeutics, Inc., the South Plainfield-based company that is beginning Phase III trials for the new drug. Barth, a Teaneck resident, explained that “many patients already know their mutation. If not, they have to have genetic testing.” Patients who carry at least one copy of a nonsense mutation (see below) may qualify. Also, patients must be at least six years of age, and have lung functioning within a certain range.
Cystic fibrosis can be caused by many different forms of mutations in the CFTR gene. The CFTR gene makes a protein that normally handles the movement of salt across membranes and the secretion of fluids and mucous. Since fluid management and mucous play important roles in many critical organs, CF can affect the lungs, liver, pancreas, reproductive structures, and sweat glands.
“This year, five women have conferred the greatest benefit on mankind. Congratulations to these Nobel Prize winners who, we believe, exemplify the pioneering spirit in all of us — regardless of gender.”
—Full page New York Times advertisement for Levi’s, Oct. 18, 2009.
Ada Yonath, age 70, made history on Oct. 7, becoming the first Israeli woman to win a Nobel Prize. She grew up in an impoverished Sephardic family in Jerusalem, went on to receive her doctorate from the Weizmann Institute of Science, completed postdoctoral fellowships at Carnegie Mellon University and MIT, and returned to Weizmann to undertake her ground-breaking biochemistry work. The Nobel Prize in chemistry was awarded to Yonath, together with Thomas Steitz of Yale University and Venkatraman Ramakrishnan, of the MRC Laboratory for Molecular Biology, Cambridge, U.K. “for studies of the structure and function of the ribosome.”
A major approach to learning about the way cells work is to study the chemicals of the cell. The shape and workings of molecules, that is, the complex chemicals, can be studied with a technique called X-ray crystallography. That approach involves first transforming the chemical of interest into crystals — a form in which there is a regular, stable pattern of atoms. Table salt and sugar are crystalline forms of simple chemicals, and are easy to prepare. But more complex chemicals and structures can be challenging to crystallize. Once crystals are made, their structure is revealed by bombarding them with X-rays. The X-rays are deflected by individual atoms, and the pattern of the deflected rays, collected on X-ray film, or by other methods, is studied in order to infer the atomic architecture of the molecules.
The initial outbreak of H1N1 (also known as swine flu) in the spring, first in Mexico, and then in the United States, has provided some lessons on what will be needed when the flu virus returns this fall. Based on patterns seen in past flu outbreaks, health-care professionals and government officials expect a more widespread outbreak of H1N1. They are preparing for this by educating the public, providing for extensive vaccinations, and planning strategies to handle workplace and school outbreaks.
A report by the non-profit group Trust for America’s Health projects that in the case of a severe pandemic more than 2.5 million New Jersey residents could get sick, and tens of thousands might die.
Need a babysitter, a ride to Manhattan, or a kosher used barbecue grill? TeaneckShuls, a moderated listserv connecting people in the northern New Jersey area, can help you find what you need. Need a kidney? TeaneckShuls can help as well. Ruthie Levi, a moderator for the listserv, reports that “as a result of an e-mail posting on this list for someone seeking a kidney donation, Rabbi Ephraim Simon of Chabad Teaneck has … successfully donated his own kidney.”
“It’s not like I woke up one morning and wanted to donate a kidney,” said Simon, who serves as the Chabad rabbi in Teaneck. “My own children, ages 2 to 14, are my first priority.” He recounted how a woman named Chaya Lipshutz had been posting for years on TeaneckShuls about people who needed kidney donors. “I would read them, and sigh, and go on with my day. I have nine little children and it was not something I would envision doing.” However, one such posting touched him deeply. “In August 2008, [Lipshutz] had a post of a 12-year-old girl — how could I let a 12-year-old girl die? I have a daughter who is 12.”
There are 80,729 people in the United States on waiting lists for a kidney (2,723 in New Jersey). Although the number of living donors has increased in recent years, the rate of donation does not keep up with demand and many people die while waiting for a kidney. There are approximately 6,000 live kidney donations per year in the United States, representing about 45 percent of all kidneys donated (the rest are from deceased donors). In New Jersey, living donors have actually eclipsed deceased donors; in the last 10 years there were 1,472 living kidney donors, compared with 1,297 deceased donors.
With so many Jewish villains in the news lately, including convicted financial scoundrel Bernard Madoff, corrupt politicians, and Jewish community leaders allegedly laundering money, it is refreshing to discover and applaud a true Jewish hero.
A grassroots e-mail campaign is promoting Rabbi Ephraim Simon for recognition as a Jewish Hero in United Jewish Communities’ online contest. If he receives enough votes on the UJC Website (www.jewishcommunityheroes.org/nominees/profile/rabbi-ephraim-simon), then his altruistic act may be recognized by UJC, the Jewish federation’s umbrella organization, with a $25,000 donation to Teaneck Chabad House.
Most people associate retirement with increased leisure time, golf, and Florida. But for Dr. Robert Bergen, who retired after 32 years as an ophthalmologist, retirement provided the opportunity to study intensively about malaria, HIV, tuberculosis, and typhoid fever. He did that in preparation for a four-month stint from December to March as a volunteer physician in the largest slum in Africa, in Nairobi, Kenya. He shared his experiences at a recent Israel Bonds event in Alpine.
“Dr. Bergen took the initiative to find a clinic on the Internet,” said Dr. Deane Penn who ran the event as part of an initiative to establish a Health Professionals Division of Israel Bonds in Bergen County. Penn, who is the Bergen County chairman of Israel Bonds, said that his colleague spent his time in the clinic caring for patients with serious infectious diseases.
